Color Atlas and Synopsis of Clinical Ophthalmology - Retina 2012

IDI......
Dr;
"-"
I
J_ r
-ri
-r-~
I r.1 ;1, ,. ., \f,, 10.u,..,J,...,
-- ::J J J"\J r ~ 2J
or
j
ClJJ JJL;. __I D.P J-J-J }Jf 11110_1DG1

Ill W i 11 s Ey e I n s t i t u t e
EDITORS
Mitchell S. Fineman, MD
Associate Professor of Ophthalmology
Thomas Jefferson University
Attending Surgeon
Wills Eye Institute
Philadelphia, Pennsylvania
Allen C. Ho, MD
Professor of Ophthalmology
Attending Surgeon
Wills Eye Institute
SECTION EDITORS
Gary C. Brown, MD
Franco M. Recchia, MD
Carl D. Regillo, MD
James F. Vander, MD
SERIES EDITOR
Christopher J. Rapuano, MD
Director and Attending Surgeon, Cornea Service
Co-Director, Refractive Surgery Department
Wills Eye Institute
Jefferson Medical College of Thomas Jefferson University
Senior Executive Editor: Jonathan W. Pine, Jr.
Senior Product Managers: Emilie Moyer and Grace Caputo
Senior Manufacturing Coordinator: Benjamin Rivera
Marketing Manager: Lisa Lawrence
Creative Director: Doug Smock
Production Services: Aptara, Inc.
© 2012 by LIPPINC01T WILLIAMS & WILKINS, a Wolters Kluwer business
Two Commerce Square
2001 Market Street
Philadelphia, PA 19103 USA
LWW.com
All rights reserved. This book is protected by copyright. No part of this book may be reproduced in any
form by any means, including photocopying, or utilized by any information storage and retrieval system
without written permission from the copyright owner, except for brief quotations embodied in critical
articles and reviews. Materials appearing in this book prepared by individuals as part of their official
duties as U.S. government employees are not covered by the above-mentioned copyright.
Printed in China
Library of Congress Cataloging-in-Publication Data

Retina I editors, Mitchell S. Fineman, Allen C. Ho. - 2nd ed.
p. ; cm. - (Color atlas & synopsis of clinical
ophthalmology-Wills Eye Institute)
Includes bibliographical references and index.
ISBN 978-1-60913-336-8 (pbk.: alk. paper)
I. Fineman, Mitchell S. II. Ho, Allen C. III. Wills Eye Hospital
(Philadelphia, Pa.) IY. Series: Color atlas and synopsis of clinical
ophthalmology series.
[DNLM: 1. Retinal Diseases-Atlases. WW 17]
617.7'35-dc23
2011052818
Care has been taken to confirm the accuracy of the information presented and to describe generally ac-
cepted practices. However, the authors, editors, and publisher are not responsible for errors or omissions or
for any consequences from application of the information in this book and make no warranty, expressed or
implied, with respect to the currency, completeness, or accuracy of the contents of the publication. Applica-
tion of the information in a particular situation remains the professional responsibility of the practitioner.
The authors, editors, and publisher have exerted every effort to ensure that drug selection and dosage
set forth in this text are in accordance with current recommendations and practice at the time ofpublica-
tion. However, in view of ongoing research1 changes in government regulations, and the constant fl.ow of
information relating to drug therapy and drug reactions, the reader is urged to check the package insert
for each drug for any change in indications and dosage and for added warnings and precautions. This is
particularly important when the recommended agent is a new or infrequently employed drug.
Some drugs and medical devices presented in the publication have Food and Drug Administration
(FDA) clearance for limited use in restricted research settings. It is the responsibility of the health care
provider to ascertain the FDA status of each drug or device planned for use in their clinical practice.
To purchase additional copies of this book, call our customer service department at ( 800) 638-3030 or
fax orders to ( 301) 223-2320. International customers should call ( 301) 223-2300.
Visit Lippincott Williams & Wilkins on the Internet: at LWW.com. Lippincott Williams & Wilkins
customer service representatives are available from 8:30 am to 6 pm, EST.
10987654321
This edition is dedicated in memory of our colleague and mentor,
J. Arch McNamara (1955-2010), whose clinical skills and passion
for teaching will be missed by all who knew him, were inspired by
him, and had the pleasure of his friendship.
SERIES EDITOR SECTION EDITORS
Christopher J. Rapuano, MD Gary C. Brown, MD
Director and Attending Surgeon, Cornea Service Professor of Ophthalmology
Co-Director, Refractive Surgery Department Thomas Jefferson University
Wills Eye Institute Director, Retina Service
Professor of Ophthalmology Wills Eye Institute
Jefferson Medical College of Thomas Jefferson Philadelphia, Pennsylvania
University
Franco M. Recchia, MD
Associate Professor of Ophthalmology and
Visual Sciences
EDITORS
Vanderbilt University School of Medicine
Mitchell S. Fineman, MD Nashville, Tennessee
Associate Professor of Ophthalmology
Carl D. Regillo, MD
Attending Surgeon
Wills Eye Institute
Director, Clinical Retina Research
Wills Eye Institute
Allen C. Ho, MD Philadelphia, Pennsylvania
James F. Vander, MD
Attending Surgeon
Wills Eye Institute
Attending Surgeon
Wills Eye Institute
vi
~----
Contributors
J. Luigi Borrillo, MD NikolasJ.S. London, MD
Northern California Retina Vitreous Associates Fellow, Vitreoretinal Surgery
Medical Group Wills Eye Institute
San Mateo, California Philadelphia, Pennsylvania
Richard S. Kaiser, MD Mitblesh C. Sharma, MD

Associate Professor of Ophthalmology Attending Vitreoretinal Surgeon
Thomas Jefferson University Kaiser Permanente Medical Group
Attending Surgeon Roseville, California
Wills Eye Institute
vii
About the Series
T he beauty of the atlas/synopsis concept
is the powerful combination of illustra-
tive photographs and a summary approach
volumes. The goal ofthe series is to provide an
up-to-date clinical overview of the major areas
of ophthalmology for students, residents, and
to the text. Ophthalmology is a very visual practitioners in all of the health care profes-
discipline that lends itself nicely to clinical sions. The abundance of large, excellent qual-
photographs. Although the seven ophthal- ity photographs and concise, outline-form text
mic subspecialties in this series-Cornea, will help achieve that objective.
Retina, Glaucoma, Oculoplastics, Neuro-
Ophthalmology, Pediatrics, and Uveitis-use Christopher J. Rapuano, MD
varying levels ofvisual recognition, a relatively Series Editor
standard format for the text is used for all
viii
itreoretinal disease is a privileged visual manual but realize that it cannot be an ency-
V discipline. There are significant barri-
ers to its study beyond the constricted pupil.
clopedic reference.
The images of this color atlas and synopsis
Ophthalmology trainees first acquire the
include over 300 color images and over 100
observational skills and facility with diagnos-
black and white images, typically fluorescein
tic instrumentation such as the slit lamp bio-
angiographic images. Each was digitized from
microscope and the indirect ophthalmoscope
an original photographic slide as a high resolu-
to begin to explore diseases that affect the
tion RGB image, at least 1500 pixels by 1200
posterior segment of the eye. It takes clinical
pixels. Our goals were to present the images in
experience to discern normal variation from
their highest quality native colors and contrasts,
significant pathology. Unfortunately, most
to limit photographic artifact, and to highlight
nonophthalmic physicians are limited to facil-
certain clinical features ofthe images with anno-
ity with the direct ophthalmoscope that only
tations or image insets. Every effort was made
affords a keyhole view of the back of the eye.
to maintain the integrity of the original photo-
We are privileged to be lifelong students,
graphs, with frequent reference to the original
practitioners, clinical researchers and teach-
source. Image enhancement was reserved only
ers of this aspect of the eye here at Wills Eye
for the selected image insets of this work, in
Hospital.
cases where we felt particular features could be
When we were asked to create a concise color better illustrated with digital manipulation. We
atlas and synopsis of vitreoretinal disease we often magnified (though at no time was inter-
knew our challenges would be to be concise polation used to create new pixels) the insets,
and to be selective since there is great rich- made them grayscale, and increased the con-
ness of clinical detail, both visually and with trast for the ease ofthe reader.
words. Our aim was to balance the breadth
Ultimately, our intent is to present this color
of the subject material with enough focused
atlas and synopsis as an aid to the diagnosis
detail to provide the framework of our think-
and management of vitreoretinal diseases in
ing regarding important clinical signs, asso-
the care of patients and as a resource for stu-
ciated clinical signs, differential diagnosis,
dents of these conditions.
diagnostic evaluation, and prognosis and
management of hundreds of vitreoretinal Mitchell C. Fineman, MD
conditions. We want this to be a "go to" field Allen C. Ho, MD
Editors
ix
Acknowledgments
G rateful acknowledgment is given to these consultants for their efforts and expertise in
imaging and for their contributions to this publication:
Ms. Stefanie Carey, BS Ms. Lisa Lavetsky

Ms. Donna Galloway Henry C. Lee, MD
Ms. Samantha Groch Ms. Elaine Liebenbaum, BS
Ms. MaryAnnJay Ms. Michele Skibo
Jay Klancnik, MD Ms. Kristen Winkelspecht
x
Contents
Editors vi
Contributors vii
About the Series viii
Preface ix
Acknowledgments x
CHAPTER l Age-RelatedMacularDegeneration I
Allen C.Ho
Dry or Nonexudative Age-Related Macular Degeneration 1
Exudative Age-Related Macular Degeneration 17
CHAPTER 2 Macular Diseases 44

Nikolas J.S. London and Mitchell S. Fineman
Macular Epiretinal Membrane 44
Idiopathic Macular Hole 49
Vitreomacular Traction Syndrome 58
Cystoid Macular Edema 60
Polypoidal Choroidal Vasculopathy 64
Degenerative Myopia 67
Angioid Streaks 72
Central Serous Retinopathy 78
Choroidal Folds 89
Hypotony Maculopathy 92
CHAPTER 3 Diabetic Retinopathy 94

James R Vander
Diabetic Retinopathy 94
Nonproliferative Diabetic Retinopathy 95
Proliferative Diabetic Retinopathy 112
Diabetic Papillopathy 132
CHAPTER 4 Retinal Vascular Disease 133

Gary C. Brown
Cotton-Wool Spots 133
Hypertensive Retinopathy 136
Cilioretinal Artery 0 bstruction (Occlusion) 142
Branch RetinalArtery Obstruction (Occlusion) 145
Central Retinal Artery 0 bstruction (Occlusion) 149
Acute Ophthalmic Artery Obstruction (Occlusion) 153
Combined Central Retinal Artery and Vein Obstruction (Occlusion) 156
Ocular Ischemic Syndrome 158
Branch Retinal Vein Obstruction (Occlusion) 163
Central Retinal Vein Obstruction (Occlusion) 166
Retinal Arterial Macroaneurysm 172
xii CONTENTS
Parafoveal Telangiectasis 175

Sickle Cell Retinopathy 178
Radiation Retinopathy 182
Lipemia Retinalis 187
CHAPTER S Retinal Degenerations and Dystrophies 189

Mithlesh C. Sharma and Allen C. Ho
Best's Disease 189
Cone Dystrophy 195
Pattern Dystrophy 198
Stargardt's Disease 203
Choroideremia 210
Gyrate Atrophy 215
Congenital Stationary Night Blindness 219
Albinism 223
Retinitis Pigmentosa 228
Systemic Diseases Associated with Retinitis Pigmentosa 233
Carcinoma-Associated Retinopathy Syndrome 236
CHAPTER 6 Retinal and Choroidal Tumors 240

Franco M. Recchia
Astrocytic Hamartoma 240
Retinoblastoma 243
Retinal Capillary Hemangioma 247
Retinal Cavernous Hemangioma 250
Congenital Hypertrophy of the Retinal Pigment Epithelium 252
Combined Hamartoma of the Retina and Retinal Pigment Epithelium 255
Choroidal Nevus 257
Choroidal Melanoma 259
Choroidal Melanocytoma 262
Choroidal Metastasis 264
Choroidal Hemangioma 267
Intraocular Lymphoma 269
Choroidal Osteoma 2 71
CHAPTER 7 Congenital and Pediatric

Retinal Diseases 2 73
Nikolas J.S. London and Richard S. Kaiser
Retinopathy of Prematurity 273
Incontinentia Pigmenti 284
Familial Exudative Vitreoretinopathy 289
Coats' Disease 294
Chorioretinal Coloboma 300
Persistent Hyperplastic Primary Vitreous/Persistent Fetal Vasculature 304
Juvenile X-Linked Retinoschisis 307
Leber's CongenitalAmaurosis 312
CONTENTS xiii
CHAPTER 8 Traumatic and Toxic Retinopathies 314

]. Luigi Bonillo and Carl D. Regillo
Commotio Retinae 314
Choroidal Rupture 316
Avulsed Vitreous Base 318
Solar Maculopathy 319
Valsalva Retinopathy 321
Shaken Baby Syndrome 323
Terson's Syndrome 325
Purtscher's Retinopathy 327
Traumatic Macular Hole 329
Chorioretinitis Sclopetaria 331
Intraocular Foreign Body 333
Dislocated Lens 336
Talc Retinopathy 338
Chloroquine or Hydroxychloroquine Retinopathy 341
Thioridazine Retinopathy 343
CHAPTER 9 Peripheral Retinal Disease 346

James F. Vander
Retinal Break or Tear 346
Rhegmatogenous Retinal Detachment 357
Proliferative Vitreoretinopathy 366
Lattice Degeneration 372
Vitreoretinal Tuft and Meridional Fold 374
Cobblestone Degeneration 376
Peripheral Grouped Pigmentation 378
Degenerative Retinoschisis 380
Exudative Retinal Detachment 383
Choroidal Detachment 386
Index 389
CHAPTER
1
Age-Related Macular
Degeneration
.AllmC.Ho •
A ge-related macular degeneration (AMD} (63 µm or smaller}; calcified drusen, which are
.l'1. describes a common degenerative con- yellow and glistening; and basal laminar dm-
dition of the retina that may affect central sen, which are small round diffuse drusen that
vision. By definition, it occurs in individu- are more apparent on fluorescein angiography
als SO years and older and is more prevalent than on clinical fundus examination (Fig. 1-3).
with increasing age. Population-based surveys Multiple large drusen are representative of a
in the Western world vary but estimate the diffuse thickening ofBruch.'s membrane. Large
prevalence ofAMD to be approximately 10% drusen, also known as soft drusen, are a risk fac-
to 3S% in individuals over the age of SO years. tor for more advanced AMD and vision loss.
AMD is divided into •dryn or none:mdative Small {also known as hard) drusen alone do
AMD and •wet• or e:mdative AMD. not increase the risk for more advanced forms
ofAMD (Fig.1-4).
Retinal pigment epithelial abnormali-
ties, including nongeographic atrophy, focal
DRY OR NONEXUDATIVE hyperpigmentation, and frank geographic
AGE-RELATED MACULAR atrophy, are also common fundus features
DEGENERAT ION of dry AMD (Fig. 1-S). Granularity of the
RPE may be an early feature of retinal pig-
D rusen are the clinical hallmark of dry

AMD. They are subretinal pigment epi-
thelial deposits between the basement mem-
ment epithelial disturbance due to AMD.
This may progress to areas of nongeographic
atrophy (Fig. 1-6) in which there is loss of
brane of the retinal pigment epithelium (RPE) pigment of the RPE, but this is not discrete,
and Bruch's membrane (Figs. 1-1 and 1-2) or and underlying choroidal vessels are not
within Bruch's membrane itsel£ Multiple types apparent. Geographic atrophy comprises dis-
of drusen have been described, including large crete loss ofRPB in a so-called cookie-cutter
dmsen (greater than 64 µm); small dmsen fashion with a minim.al diameter of 2SO µm
1
2 1 AGE-RELATED MACULAR DEGENERATION
associated with underlying loss of choroidal and associated retinal pigment epithelial
stromal pigment and clearly visible underly- abnormalities including granularity of the
ing larger choroidal vessels (Fig. 1-7). RPE, atrophy of the RPE, or focal hyperpig-
mentation will often note .fluctuating vision,
including central blurring. They typically will
EPIDEMIOLOGY AND
describe a need for increased light intensity
ETIOLOGY in order to read and have difficulty adapting
between different lighting.
• Drusen are seen increasingly with advanc-
• Patients with dry AMD and without evi-
ing age and typically are present in the sixth
dence of geographic atrophy of the RPE or
decade oflife or later. Population-based stud-
exudative AMD typically have good central
ies estimate approximately 10% prevalence
vision between 20/20 and 20/60.
of early AMD ( drusen) in the fifth decade of
life, increasing to 35% in the seventh decade.
CLINICAL AND
Drusen may be seen in younger patients and
may be heritable in these cases. FLUORESCEIN
• The precise source of drusen material is not
ANGIOGRAPHIC SIGNS
completely understood, but they are thought
• Fundus biomicroscopy shows subretinal
to represent degenerative products of retinal
pale yellow deposits that may vary in size from
pigment epithelial cells; they are composed of
greater than 64 µm (large drusen) to small or
lipids and glycoproteins, and may be mineral-
hard drusen ( 63 µm or smaller) in diameter.
ized. Retinal pigment epithelial alterations are
Calcific drusen have a glistening appearance,
seen increasingly with age and are common in
and most patients with AMD have a mixture of
the seventh, eighth, and ninth decades of life.
clinical drusen types. Large drusen will often
become confluent into larger drusenoid pig-
PATHOLOGY ment epithelial detachments. Drusen should
be considered fluid and dynamic structures
• Transmission electron microscopy of eyes that can appear or resolve over time (Fig. 1-8).
with drusen and dry AMD shows two types
• An irregular granular appearance to the
of deposits:
RPE is often seen in association with drusen.
Basal laminar deposits consist of wide- Areas of nongeographic atrophy or frank geo-
spaced collagen localized between the reti- graphic atrophy are often appreciated after the
nal pigment epithelial plasma membrane spontaneous resolution of drusen and, in par-
and the retinal pigment epithelial base- ticular, drusenoid pigment epithelial detach-
ment membrane. ments. Intraretinal pigment clumps or focal
Basal linear deposits consist of lipid-rich hyperpigmentation represents advanced reti-
material external to the basement mem- nal pigment epithelial degeneration as well.
brane of the RPE in the inner collagenous • Fluorescein angiography typically demon-
zone of Bruch's membrane. strates a patchy hyper- and hypofluorescence
without leakage of dye. Drusen may show
HISTORY early or late hyperfluorescence, depending
on the integrity of the overlying RPE and
• Patients with drusen may be visually the histochemistry of the drusen them-
asymptomatic. Patients with multiple drusen selves. Large soft drusen typically show early
Dry or NonexudativeAge-Related Macular Degeneration 3
hypofluorescence and late hyperfluorescence be evaluated with fluorescein angiography to

(Fig. 1-9). This angiographic pattern is incon- rule out e.xudative AMD.
sistent, however, because some drusen, even • Careful fundus biomicroscopy is impor-
those that are large, will show earlier hyper- tant to rule out subtle signs of exudative
.fluorescence (Fig.1-10). Geographic atrophy AMD.
shows discrete hyperfluorescence with stable
• Optical coherence tomography (OCT) is
boundaries throughout the angiogram
an essential diagnostic tool in the evaluation
(Fig.1-11).
ofAMD patients and can help establish the
presence of early exudative AMD and help
ASSOCIATED CLINICAL determine the response to therapy.
SIGNS
PROGNOSIS AND
• When drusen are noted in patients over
the age of 50, other features of AMD are often MANAGEMENT
observed, including granularity and atrophy
of the RPE. Drusen that are associated with • Patients with drusen are counseled that
subretinal fluid, hemorrhage, or lipid exuda- they have the dry form ofAMD and that
tion due to choroidal neovascularization most patients with drusen will not develop
(CNV) are characteristics of exudative AMD. vision loss due to more advanced forms of
AMD ( exudative AMD and CNV or geo-
graphic atrophy). Patients with multiple
DIFFERENTIAL DIAGNOSIS large drusen are at a higher risk of develop-
ing CNv, particularly if the fellow eye has
• Drusen are subretinal and should be dis-
previously developed exudative AMD
tinguished from intraretinal processes such as
(Table 1-1). The 5-year risk of developing
intraretinal lipid, retinal emboli, and cotton-
CNV in fellow eyes of patients with exuda-
wool spots. The borders of drusen may be
tive AMD ranges between 40% and 85%.
more distinct in smaller hard drusen and less
Management includes counseling regarding
distinct with large drusen.
the importance of monitoring central vision
• Other yellow macular lesions can be in each eye with a test object such as the
included in the differential diagnosis of dru- Amsler grid (Fig.1-12).
sen, including the following:
Pattern dystrophy: Presents in younger
TABLE 1-1. Risk of Choroidal
patients; lesions show geographic shape.
Neovascularization ( CNV) for Eyes with
Best's disease: Round or oval lesions Drusen (Fellow Eye with Exudative CNV)
may show different stages.
Overall estimate is 1096 ofpatients per year with
Adult foveomacular dystrophy: unilateral drusen will develop CNY.1he Macular
Yellowish green subfoveal lesion; may sim- Photocoagulation Study Group has established risk
ulate CNV on fluorescein angiography. factors that increase the risk ofCNV:
Multiple large drusen
DIAGNOSTIC EVALUATION Focal hyperpigmentation
Hypertension
• Patients with a sudden change in vision or
Smoking
new blur or distortion of central vision may
• Information from the age-related eye believe that this clinical feature may represent
disease study (AREDS) demonstrates that a sign of early, ill-defined CNV in many cases.
micronutrient and antioxidant supplementa- If there is a suspicion of early emdative AMD,
tion (vitamin C, 500 mg; vitamin E, 400 IU; then fluorescein angiography and OCT imag-
beta carotene, 15 mg; zinc, 80 mg as zinc ing may be performed. Since early retinal pig-
oxide; and copper, 2 mg as cupric oxide) ment epithelial abnormalities and granularity
can effect a modest but definite reduction in of the RPE may lead to nongeographic atro-
clinical progression ofAMD and moderate phy and frank geographic atrophy, they may
visual loss in patients with dry AMD and be harbingers of vision loss.
at least one large druse of 125 µm or larger. • There are numerous clinical trials inves-
Data were not significant for patients with tigating potential therapies for dry AMD
mild or borderline dry AMD (multiple small including other nutritional supplements such
drusen or nonextensive intermediate drusen as omega 3 fatty acids, lutein and zeaxanthin
of 63 to 124 µm, pigment abnormalities, or carotenoids (AREDS 2 Study), visual cycle
any combination of these). inhibitors, anti-inflammatory or complement
• Patients with focal hyperpigmenta- inhibitors and stem cell therapies. An intraoc-
tion have a higher risk of developing more ular implantable telescope has been approved
advanced forms ofAMD associated with for patients with geographic atrophy based on
vision loss and, in particular, CNY. Some clinical trial evidence.
Dry or Nonaudative Age-Related Macular Degeneration S
PIGURB 1-1. Larp clruen. A. Fundus photograph demonstrating predominantly large dnu~ some ofwhich
are confluent (imet). Vl.IUlll acuity was 20/25. Band C. Red free fundua image and OCT image of drmen at the
level of Bruch's membrane and the retinal pigment epithelium. Note the irregular elevation of the retinal pigment
epithelium caused by drwien.
6 l AGE-RELAT ED MACULAR DEGENERATION
FIGURE 1-i. Con8aeat dnuen. Pandua photograph demonstrating multiple large, predominantly confluent
druaen. Coniluence ls greatest temporal to the fovea. Confluent druaen are a rl1k factor for uudative age-related
mac;ular degeneration (AMD).
FIGURE 1-3. Bual. l•mln•• clruea. Pandus photograph demonsb:ati.ng multiple small, round, di1fme drusen
(inset) with large areu of confluence in the pOlterior pole and midperipheral retina. Baul laminar drWlen may be
more apparent with fluo.rescein angiography than clinic:ally.
Dry or Nonaudative Age-Related Macular Degeneration 7
PIGURB 1-4. Buel dn1en. Hard dnaen (inlet) are small (63 µm or mialler) and are not a mkfactor for more
advanced forms of AMD.
FIGURB 1-.S. Focal hyperpigmentation. Pandua photograph showing multiple drmen with ret:in.al pigment
epithelial alterations (in1et). Focal hyperpigmentation i1 noted in the fovea and jult nual to the fofta. Focal
byperpigmentatl.on ii a risk factor for more advanced forms ofAMD a11odated with viii.on loss.
8 l AGE-RELAT ED MACULAR DEGENERATION
PIGUim 1-6. Nonpographlc atrophy. A. Multiple large druen are noted and there are areu of retinal
pigment epithelial alterations. Surrounding the fovea superiorly and temporally are two areu of nongeographic
atrophy. 'Ihere ii thinning of the retinal pigment epithelium (RP.P..), but the bordert are not discrete around the
entire leaion and the underlying larger choroidal vessels are not viafble at thil time. B. Fluoresceln angiogram
demonstrating traumiuion hyper.fluorescence in nongeograpbic atrophy. Later images do not demonstrate
leakage.
Dry or Nonaudative Age-Related Macular Degeneration 9
FIGURB 1-7. Blul-atqe pogrephic atrophy. Large geographic atrophy involving the fovea. Note the 'rilibflity
of the underlying larger choroidal 'ftlffh. Visual acuity was counting fingers.
PIGUllB 1-8. Dnuenold plgmmt epithelial detadun.mt. A. Right eye ofa patient mowing large conftuent
drusen in a drusenoid pigment epithelial detachment configuration. '.Ihere ii focal byperpigmentation centered
on the foVH. Vi•ual acuitywu 20/40. B. Left eye oft.be same patient mowing 1pontaneow raoluti.on ofa
drusenoid pigment epithelial detachment with a residual rim of conftuent large druaen.. Visual acuity wu 20/30.
Dry or None:mdativeAge-RdatedMacular Degeneration 11
PIGUJlB 1-9, Multiple large dnaeen and ~amt draeen. A. Drusen may sponta.neoutly regress and progress
to areas of right pigment epithelial atrophy (arrow). 'Ihere is loa of foveal pigment from spontaneoua resolution
of drusen. B. Early-phase ftuorescein angiogram demonstrating mild relative hypofluores<:ence corresponding to
drusen (arrow).
( continutd)
PIGURB 1-9. (Continued) Maltiple lup clraHll and conftaent dnuen. C. Redrculation phue of iuoracein
angiogram mowing staining of drmen .. di•crete areas ofhyperfluorescence (cinvw).
PIGURB 1-10. Maltlple large drmen. A. Multiple large coniuent drusen {web!). Visual acuity wu 'JJJ/25.
(amtinued)
Dry or None:mdativeAge-RelatedMacular Degeneration 13
PIGUJl.B 1-10. (Continued) Maltiple luge dra.lm. B. Fluorescein angiogram thawing early hyperftuorescence
of the large drusen ( irmow). C. Late ftuorescein angiogram showing drusen ltain1ng but no evidence of c:horoidal
neovascularization (OW. CUTOW).
PIGUllB 1·11. Atrophlc AMD, A. Color fun.dus photograph demonstrating atrophic AMD. Multiple tarp
and mediuui.aized dnuen are noted, and an area of geographic atrophy ii noted juat 111perior to the fovea (inset
upper right). 'Ihe borden are di1crete, and the larger underlying choroidal veuels are via"ble. Areu offocal
hyperpigmentation are noted u well (inset lower right). B. Early·phue iluorescein angiogram demon1trating
t:ransmisllion hypedluo.reacence in the area of geographic: atrophy.
(continued)
Dry or None:mdativeAge-R£1atedMacular Degeneration 1S
PIGUIW 1-11. (Continued) AtrupJaic: AMI>. C. Recimtlation phase photopaph 9haw1 hypedluorescem:e in
the area of geographic atrophy but no evidence of leakage (inset). D. Late-pbue 8.uoreacein anglogram .bowing
some fading of the di.oroidal fluora<:enc:e and staining hyperfiuorescen.c:e in the region of geographic atrophy.
PIGURB 1-12. Almler grtcb. Patient. are instructed to monitor their central viii.on one eye at a time.
Distortio11t blurriness, or miuing areaa should prompt evaluation.
Emdative.Agl:-Rdated Macular Degeneration 1 7
EXUDATIVE AGE-RELATED PATHOLOGY

MACULAR DEGENERATION • CNV is typically derived from choroidal
venules and may invade above and beneath
mdative AMD is characreri7.ed by intra- the RPB through breaks in Bruclis membrane.
.&..Jremll, subretinal or subretinal pigment epi-
thelial leakage, hemorrhage, or lipid exudation.
CNV is the abnormal growth of new clwroidal HISTORY
vessels into the subretina1 space through defects
in Bruch's membrane. In AMD, CNV may be • Patients with exudative AMD may note
invested within Bruclis membrane and the reti- loss ofvision, distortion ofvision, or blurring
nal pigment epithelium. Younger patients (non- ofvision. Early changes may be more evident
AMD) who develop CNV typically develop with Amsler grid monitoring.
this vascalarization in the subretinal space alone. • Patients may be asymptomatic, however, if
Pigment epithelial detachment describes a blister- the fellow eye continues to function well.
like elevation of the retinal pigment epithelium • There may be a history ofloss ofvision in
and is another furm ofemdative AMD. Pigment the fellow eye due to exudative AMD.
epithelial detachments may be vasculari7.ed
(fibrovascular pigment epithelial detachment)
CLINICAL OCT
or may be purely serous and not associated with
CNY. Disdfunn scarringis a final common path- AND FLUORESCEIN
way of CNV and pigment epithelial detachment ANGIOGRAPHIC SIGNS
in which there is progressive fibrosis and loss of
macular photo.receptor function (Fig. 1-13). • Careful slit lamp fundus biomicroscopy is
Although the prevalence of the emda- important in the diagnosis ofexudative AMD.
tive form of AMD is low (approximately 1096 Clinical signs of retinal edema, subretinal
of all patients with AMD), this furm of late fluid, lipid exudation and intra and subretinal
AMD accounts for the majority oflegally blind hemorrhage can be subtle. In particular, it is
patients with AMD (9096). The incidence of difficult to determine retinal fluid when there
exudative AMI> is on the rise, with an estimated are areas of RPB depigmentation or atrophy.
2001000 individuals experiencing severe central • OCT imaging of exudative AMD may
loss ofvision due to e.mdative AMD in the year reveal thickening ofthe macula or retinal pig-
2011. This is e:s:pected to rise to approximately ment epitheliwn. '!here is often intraretinal
500,000 per year by the year 2030. cystic change, subretinal fluid or RPE detach-
ment. Quantitative imaging over time and
with image registration affords information to
EPIDEMIOLOGY AND determine response to therapy. Not all cystic
ETIOLOGY change may represent true edema as chronic
retinal B.uid may create tubular changes that
• CNV is the leading cause of central blind- mimic edema.
ness among the elderly in the United States • Fluorescein angiographic classification of
and in most ofthe Western world. The patho- emdative AMD was particularly important
physiology of exudative AMD and the spe- prior to pharmacologic therapy, specifi-
cific stimuli required for the development of cally anti-vascular endothelial growth factor
CNV are not well understood. treatment.
Classic Choroidal Neovascularization late leakage of undetermined source, is char-

• Fundus biomicroscopy may reveal a green- acterized by leakage of fluorescein dye in the
ish gray subretinal lesion often with associated recirculation phase of the fluorescein angio-
submacular fluid, hemorrhage, or lipid exuda- gram associated with pooling of fluorescein
tion due to the incompetent vasculature of dye in the subretinal space and areas of speck-
the CNY. Occasionally, a ring of dark pigment led hyperfluorescence (Fig. 1-16).
may surround the CNY. The pigment ring is • Most patients with exudative AMD dem-
more commonly observed in patients with onstrate a combination of classic and occult
classic CNY. Fluorescein angiography is nec- CNV (Fig.1-17). Characterization of the dif-
essary to characterize the nature and location ferent types of CNV is important as manage-
of the CNY. CNV may be subfoveal iflocal- ment recommendations are based not only
ized beneath the geometric center of the fovea, on the location of the lesion, but also on the
ju.x:tafoveal iflocalized from 1 to 199 µm from nature of the CNY.
the foveal center, or extrafoveal if 200 µm or
farther from the center of the fovea.
Fibrovascular Pigment Epithelial
• Classic CNV is characterized by early
Detachment and Serous Pigment
appearance of fluorescein leakage during the
Epithelial Detachment
choroidal and retinal vascular filling phases
of the fluorescein angiogram (Fig.1-14). • Fibrovascular pigment epithelial detach-
The leakage may be characterized by a lacy ment is a form of occult CNY. Purely serous
appearance of a network ofblood vessels (but pigment epithelial detachment is character-
this is not requisite) and typically is fairly well ized by a blister-like elevation of sub-RPE
delineated. More importantly, the lesion must fluid. Fundus biomicroscopy shows an orange
demonstrate continued leakage through the ring that illuminates with a slit-lamp light
recirculation and late phases of the fluores- beam. A serous pigment epithelial detach-
cein angiogram. ment is often associated with a serous detach-
ment of the neurosensory macula as well.
Occult Choroidal Neovascularization Fluorescein angiography shows a uniform
• Fundus biomicroscopy may demonstrate rapid filling of fluorescein dye beneath the
irregular elevation of the RPE most com- boundaries of the pigment epithelial detach-
monly in association with submacular fluid, ment (Fig.1-18).
hemorrhage, or lipid exudation due to the • Fibrovascular pigment epithelial detach-
incompetent vasculature of the CNV; less ments may have associated serous retinal
commonly, irregular elevation of the RPE pigment epithelial detachments and are often
alone may comprise the only clinical sign of denoted by a notch on the fluorescein angio-
occult CNY. Occult CNV is characterized by gram (Fig. l-19A, B). The notch represents
later appearing and less intense fluorescein the CNY. Fibrovascular pigment epithelial
angiographic leakage. detachments are more likely to have a sero-
• One type of occult CNY, fi.brovascular pig- sanguineous component in the sub-RPE fluid,
ment epithelial detachment, is characterized and this may be visualized ophthalmoscopi-
by irregular stippled hyperfluorescence with cally. Indocyanine green angiography may
mild leakage or staining of fluorescein dye be helpful in imaging presumed CNV in the
in poorly demarcated boundaries ofleakage setting of occult CNV and pigment epithelial
(Fig. 1-15). The second type of occult CNY, detachment (Fig. l-19C, D).
ExudativeAge-RelatedMacularDegeneration 19
Retinal Pigment Epithelial Tears Occasionally, retinochoroidal anastomoses

• Retinal pigment epithelial tears may be are seen connecting the underlying patho-
observed in association with pigment epithe- logic CNV and fibrosis with the retinal
lial detachments. A scrolled edge of RPE may circulation. Fluorescein angiography shows
be apparent with fundus biomicroscopy and staining of the disciform scar and leakage
sometimes is associated with a flattening of the from any residual active CNY.
retinal pigment epithelial detachment Vision
loss is typically observed with a retinal pigment
epithelial tear, although in some cases, good DIFFERENTIAL DIAGNOSIS
central vision is preserved in the short term.
Fluorescein angiography shows early intense • Signs of exudative AMD such as retinal
hyper.fluorescence corresponding to the area hemorrhage, lipid exudation, macular edema,
of denuded RPE and relative hypo.fluorescence and submacular fluid may be confused with
where there is scrolled and redundant retinal non-AMD conditions. For example, serous
pigment epithelial tissue (Fig.1-20). detachments ofthe macula may be associated
with central serous retinopathy, although this
Submacular Hemorrhage is typically seen in younger patients.
• A large submacular hemorrhage may be • Intraretinal hemorrhage can be seen in
associated with apoplectic loss of central vision. retinal venous occlusive disease, hypertensive
It may be the presenting manifestation of exu- retinopathy, or diabetic retinopathy, but it
dative AMD or may follow the development of also may be the presenting sign of early CNY.
classic or occult CNY, or both (Fig.1-21). • Cystoid macular edema may be a present-
• Fundus biomicroscopy shows subretinal ing sign of CNY. Cystoid macular edema due
and sometimes preretinal or subretinal pig- to CNV may be confused with pseudophakic
ment epithelial hemorrhage that may have sig- cystoid macular edema. Macular edema
nifi.cant elevation greater than 1 mm in height. associated with retinal vascular conditions
The extent ofthe hemorrhage may be limited such as venous occlusive disease, parafoveal
or sometimes can extend to involve the entire telangiectasia, or diabetic retinopathy may
posterior pole or beyond. Vision loss typically present in similar fashion to exudative AMD.
correlates with the extent of subfoveal involve- Stereoscopic fluorescein angiography is
ment and the two-dimensional size of the critical to make the correct diagnosis.
submacular hemorrhage. • Polypoidal choroidal vasculopathy is an
• Fluorescein angiography may or may not e.x:udative maculopathy that may be seen in
show source CNY. The submacular hemor- all races but usually is observed in African
rhage will typically obscure underlying nor- Americans or Asian Americans in whom
mal and pathologic choroidal fluorescence. e.x:udative AMD is less common. This condi-
tion is characterized by choroidal aneurysms
Disciform Scar with associated serosanguineous pigment
• Disciform scar is the final common path- epithelial detachments and submacular exu-
way of exudative AMD. Thin or thick fibrotic dation. This particular condition is imaged
submacular scarring may be observed, and well with indocyanine green angiography,
there may be associated chronic submacular whereby choroidal saccular aneurysms may
fluid, lipid exudation, cystoid macular edema, be highlighted in a peripapillary distribution
and submacular hemorrhage (see Fig. 1-13). or in a macular distribution.
• Large submacular or intraretinal hemor- Group Classic established that thermal laser
rhages can be seen in the setting of trauma, photocoagulation was the treatment of choice
choroidal tumor, or retinal arterial macroan- for well-delineated ex:trafoveal CNY. The major
eurysm, and these conditions, in addition to problem with this therapy is that up to 60% of
exudative AMD, should be considered in the eyes will develop recurrent CNVs, the majority
context of this clinical presentation. ofwhich are subfoveal (Fig. 1-22). Currently,
many specialists would choose anti-VEGF injec-
tion therapy for extrafoveal CNV because it is
PROGNOSIS AND
less destructive and potentially more efficacious.
MANAGEMENT
• Verteporfin photodynamic therapy
• The central visual prognosis of exudative (PDT): Prior to anti-VEGF injection therapy
AMD has dramatically improved with the the Treatment ofAMD with Photodynamic
advent of anti-VEGF injection therapies; Therapy Study Group established that verte-
peripheral vision typically remains unaffected. porfin PDT was the treatment of choice
Over 90% of patients can experience main- for predominantly classic subfoveal CNY.
tenance ofvision over time with frequent Although visual improvement was achieved in
anti-VEGF injections. Up to a third or higher only a minority of eyes (approximately 15% at
of these patients can experience significant 1 year), treated eyes show more visual stabil-
visual gains with this treatment. There are a ity than observed eyes over 2 years. Treatment
variety of clinical research trials investigating benefit was also established for occult CNV
new treatments for exudative AMD. but not for mixed lesions that are less than pre-
dominantly classic CNV (Fig. 1-23). Currently,
verteporfin PDT is generally considered as
Evidence-based and Other 1herapies
a potential adjunctive treatment for exuda-
• The current benchmark foundation therapy tive AMD and is often performed at reduced
for exudative AMD is monthly (ranibizumab, energy fluence. PDT may play a larger role in
Lucentis) to bimonthly (aflibercept, Eylea) the treatment ofpolypoidal choroidal vascu-
anti-VEGF injections as established by ran- lopathy compared with exudative AMD.
domized controlled clinical trials that frequent
monitoring visits and frequent injections Surgical Therapies
afford the highest chance of best visual acuity.
• The submacular surgery trials did not
• Ranibizumab, aflibercept and off-label demonstrate benefit for surgical evacuation
bevacizumab appear to have greater potency oflarge submacular hemorrhage and CNY.
compared with pegaptanib (Macugen) Surgical displacement oflarge submacular
although a comparative trial has not been hemorrhages with or without clot lysing
performed. Currently, there are multiple clini- agents such as tissue plasminogen activa-
cal trials exploring the potential enhanced tor may improve vision for some patients
efficacy of combining anti-VEGF injection and may also reveal underlying CNV-at
therapy with other pharmacologic agents. this time there are no surgical clinical trials
• Thermal laser photocoagulation: In the exploring the displacement oflarge submacu-
1980s the Macular Photocoagulation Study lar hemorrhage.
.ExudativeAge-RdatedMa.cular Degeneration 21
FIGURE 1-13. Dt.dlonn Kar. A large area of 1ubmacular fibrom with chronic submacular fluid ii noted.
Diadform •earring a the final common pathw.Ey for emda.tive AMD. ViNal acuity ii counting 1ingcrs eccentricaily.
FIGUBB 1-14. Emulatt:n AMD, dud~ CNY.A. Shallow subma<=Ular fluid and intxvetinal hemorrhage are noted.
( CMrtinutd)
PIGUJl.B 1-14. (Continued) Emulattn.AMD, dud~ CNV. B. Arterio-venous pb.ue fiuorescein angiogram
showing a cartwheel of emafoveal c:lauic: CNV (arrow) and hypoftuoresceru:e corresponding to retinal
hemorrhap. C. Recirc:ulation phase photograph show:illg early leakage of d~ from the cla.Hic CNv.
(continued)
PIGUJl.B 1-14. (Continued) Emulative.AMI>, dud~ CNV. D. Late image showing tome pooling of dye beneath
the neuroaemory retina. B. 'Ihermal laser photocoagulati.on is performed and 1haw1 retinal whitening.
(continued)
PIGUJl.B 1-14. (Continued) 11.Dadatln AMI>, c:luelc: CNV. P. Three weeb later there ia evidence of atrophy
in the area ofluer treatment and resolution of the submac:ular tluid. G. Fluoracein angiogram mowing no
eriden.ce of recurrent CNV at 3 weeb. 'Ihe patient remains at risk for the subsequent development of recurrent
CNY.
.ExudativeAge-RdatedMa.cular Degeneration 2S
FIG'Ulll! 1·15. Oa:alt CNY. A, Color fundus photograph demonstrating drusm and slightly turbid submacular
fluid centered inferior to the foVH (inset). B. Recirculation phase fluorescein angiogram demoutrating ill-
defi.ned stippled byperfluorescence inferior to the fovea. 'Ihere is some drmen staining u well (inset).
(continued)
FIGURE 1-IS. (Continued) Oc:c:alt CNV. C. Fluorescein angiogram demonstrating some mild leakage of
fluoretcein dye beneath the fowa. Late fluorescein angl.ographic imaga lhow ill-defined leakage inferior to the
fovea (inset). D, Red-free image of occult CNV. B. OCT image demonstrating intraretioal fluid, subretioal fluid
and retinal pigment epithelial detachment.
PIGUllB 1-16. Oa:Dlt CNv. A. Color fundus photograph showing turbid submacular ftuid and drusen ("n"OW).
B. Fluorescein angiogram thawing ill-defined •tippled byperfluorescence temporal to the fowa (tmOW).
(continued)
PIGUJl.B 1-16. (Continued) <k<=alt CNV. C. Fluoreacein angj.ogram showing more diffuse ill-defined leakage
(arrow). D. Late Suoreac:ein angiogram showing poorly demarcated, stippled hyperiuoresc:ence and leakage of
dye characteristic of occult CNV (arrow).
PIGUllB 1·17. CbaAk and oc;Qilt CNV, A. Pundus photograph demonstrating macular edema u well as
shallow mbmacular fluid due to emdatiw AMD (arrow). Some drusen are noted peripheral to the neurosensory
detachment. B. Arterio-venou1 phase fluorescein angiogram lbowing hyperlluorucence comi.stent with
combination of dusic and occult CNv. Clusic component is superior and bmlporal.
PIGUJl.B 1-17. (Continued) a...lc: aad o""1t CNv. C. Midphue fluoreacein angiogram demonstrating
leabg'e &om the aubfoveal CNV. Cluaic component shows brighter hypertluoreacenc:e than the oc:cult CNv. D.
Pooling of 8.uorescein dye below the neurosensory detachment from classic and oa:ult CNV (inset).
.ExudativeAge-RdatedMa.cularDegeneration 31
PIGUllB 1·18. B.etlna1 pigment eplthellal de1achment. A. Color fundua photograph showing a retinal
pigment epithelial detachment with submacular Buid centered temporal to the fovea. Some dnuen are noted
temporal to the detachment. B. Midphue fluorescein angiogram showing hyperfluorescen.ce corresponding to a
large retinal pigment epithelial detachment.
PIGUJl.B 1-11. (Continued) R.etm.a1 pigment epJlhelia1 detadament. C. Recirculation pha.se fluoracein
anglognm demonatrating pooling of dye beneath the pigment epithelial detachment and a 6brovucular
component centered on the fowa. D, Pluorescein angiogram showing the eztent of the 1erou1 and fibrovucular
pigment epithelial detachment. 'Ihe area of involvement remaim unchanged &om the recirculation phase image.
(amtinutd)
PIGURB 1-18. (Continued) Retinal pigment epithelial cletaclunent. E. Red-free fundua image of retinal
pigment epithelial detachment. P. OCT image demonstrates retinal pigment epithelial detachment and
as11odated macWat edema.
.....
PIGUJlB 1-19. SCl'Ou plgment epJlhelia1 detaduD.ent. A. Color fundus photograph demonstrating a blister-
like elevation of a 1eroua pigment epithelial detachment (inset). B. Fluorescein angiogram ahowing a 1erous
pigment epithelium detadiment centered on the fovea with a notch on the nasal border. 'Ihe notdi may represent
an area of CNV.
( continutd)
.ExudattveAge-RelatEdMa.cular Degeneration 3 S
PIGUIW 1-19. (Continued) Sennu pigment eplthellal detach meat. C. Another patient with pigment epithelial
detachment seen on fluoresc:etn angiography; no notch is observed. D. Indocyaoine green aogiogram showing
a focal area ofhyperfluorescence ("7TOW) within the pigment epithelial detachment corresponding to presumed
CNY.
FIGUBB 1 ·20. B.etlna1 pigment eplthellal tear. A. A retinal pigment epithelial tear is noted by the dit<:rete
borders of the Lon of pigment in the temporal macula. A scrolled edge can be seen as a curved hyperpigmented
line eztending through the fovea (.in&et). B. Barly·phue fiu.orescein angiogram showing a bright, well~elineated
area ofhypedluorescence corraponding to the retinal pigment epithelial tear. 1he redundant scrolled edge of the
tear shows u relative hypoJluoracenc.e in an arc through the fovea (iwlet).
(continued)
PIGUIW 1-20. (Continued) lletlml pJgment epithellal tear. C. Late-phue ftuorescein angiogram showing no
evidence offtuoretcein dye leakage beyond the temporal border of the tear (wet). D. 'Ihirty months later, the
color fund.us photograph shows IO?De submacular fibrosis and atrophy in the retinal pigment epithelial tear.
Underlying choroidal 'VHllm are visible in the region of the tear (inset).
FIGURE 1-21. Submac:alar hem.ontuap. Submacular hemorrhage can caue dramatic tudden lou of central
Tiaion in patientl with audatin AMD. Note that aome avedying retinal 'ftl1el11 are Tisible, the clue that the
hemorrhage is subretinal.
PIGUJlB 1-ll. llec:mrent CNV after thermal luer treatm.ent. A. Color fundus photograph showt prior
area ofhyperpigmented therm.al laser photocoagulation scar and new submacular hemorrhage and fluid
eztending through the fovea. B. Fluorescein angiogram showing the hyperlluores'4'D.t, subfoveal, recurrent CNV
mrrounded by a rim ofhypoftuorescence. 'Ihe old thermal laser 1car ii predominantly h'ypoiluorescent inferior to
theCNY.
FIGURE 1-23. Antt-VBGF therapy for a:adative AMO.A. Color fwldus photograph demonstrating serous
macular detachment and retinal hemorrhage prior to treatment with monthly int:ravitreal ranibizumab antl-VEGF
therapy. VJ.SUal a.cuitywu 20/100. B. PretreatmentfiuoreKein angiogram demonat:nting oa:ult subfoveal CNv.
(continued)
FIGURB 1-23. (Continual) Allti-VEGF therapy for a:adatiTe AMD. C. Pretreatment ftuoreacein angiogram
dem.Ollltrating leakage within the neuroseuory detachment. D. Pretreatment OCT image demonstrates CNV
and thickening of the macula.
PIGUllB 1-23. (Continued) Antl-VBGP therapy for a:aclatlft AMD• .B. One year po1tt:reatment color fundu
photograph renals dimini.hed submacular fluid and absence of retinal hemorrhage. Visual acuity was 20/40.
F and G. Po1tt:reatment fluorescein angiogram demonstrating lea leakage and staining.
(amtinued)
.ExudativeAge-RdatedMa.cular Degeneration 4 3
PIGURB 1-23. (ContinwA) Anti-VEGP tb.e:raPTforemclathe AMI>. H. Polttreatment OCT image reveal•
reduced macular tbJckentng. Vl•ual acuitywu 20/40.
CHAPTER
2
Macular Diseases
Nikolas JS. London and Mitchell S. Fineman •
MACULAR EPIRETINAL ofthe membrane. After PVD, a portion of

MEMBRANE posterior cortical vitreous may be left behind
on the macul~ or the internal limiting mem-
1'I acular epiretinal memb.rane is an acquired brane may be disrupted, allowing glial cells to
l.T.I.formation of a semitransparent fibro- proliferate on the surface ofthe retina. These
cellular membrane in the macula. proliferating glial cells form the epiretinal
membrane. After retinal break formation and
trauma, retinal pigment epithelial cells may
EPIDEMIOLOGY escape into the vitreous cavity and settle upon
AND ETIOLOGY the macula. These cells may then undergo
metaplasia to glia1 cells, allowing the forma-
• Macular epiretinal membranes may be tion of macular epiretinal membranes.
either idiopathic or secondary to other intra-
ocular abnormalities, including retinal breaks, HISTORY
retinal vascular disease, uveitis, blunt and
penetrating trauma, and surgery. Idiopathic • Ifthe macular epiretinal membrane is thin
macular epiretinal membranes are most com- and not producing distortion of the retina,
mon after SO years ofage. then the patient is usually asymptomatic.
• Males and females are affected equally. With progressive thickening and contraction
• Bilateral macular epiretinal membranes ofthe membrane, patients begin to notice
occur in approximately 2096 of patients, decreased vision, metamorphopsia, and mac-
with the severity ofthe membranes usually ropsia or micropsia.
asymmetric. • Most patients maintain vision better than
• Most patients have posterior vitreous 20/SO.
detachment (PVD}, and it is thought that this • Most epiretinal membranes progress slowly
phenomenon may contribute to formation and occasionally improve spontaneously.
44
Macular Epiretinal Membrane 4 S
IMPORTANT DIAGNOSTIC EVALUATION

CLINICAL SIGNS
• Usually measurement ofvisual acuity,
• Macular epiretinal membranes initially Amsler grid testing (to assess for metamor-
appear as translucent, glistening membranes phopsia, macropsia, or micropsia) and oph-
over, or adjacent to, the central macula thalmoscopy suffice to make the diagnosis
(Fig. 2-1). There may be a "pseudohole"' of macular epiretinal membrane. Slit-lamp
appearance over the fovea. As the membrane biomicroscopy with either a noncontact or a
matures, it becomes more opaque (Fig. 2-2A). contact lens greatly facilitates diagnosis.
• There may be associated superficial hem- • Optical coherence tomography ( 0 CT) has
orrhages or nerve fiber layer infarcts. become standard in documenting the presence
of an epiretinal membrane. OCT reveals a
• The membranes contract centrally and
hyperreflective band on the surface ofthe retina,
cause wrinkling and distortion ofthe under-
associated with retinal distortion, thickening,
lying retina. This wrinkling and distortion
and/ or cystoid edema in advanced cases.
gives rise to other names for this condition:
cellophane maculopathy, surface wrinkling • Fluorescein angiographywill clearly delineate
retinopathy, and macular pucker. If the dis- retinal vascular distortion and leakage that may
tortion is severe, cystoid macular edema and occur from cyst:oidmacu1ar edema (Fig. 2-2B, C).
even shallow tractional retinal detachment
can occur. PROGNOSIS AND
MANAGEMENT
DIFFERENTIAL • Most patients with uniocular macular
DIAGNOSIS epiretinal membrane and vision better than
20I SO are usually not significantly symptom-
• Cystoid macular edema atic and do not require intervention. Patients
• Choroidal neovascularization ( CNV) with vision of20/60 or worse and those
• Macular hole patients with intolerable distortion may benefit
from pars plana vitrectomywith membrane
• Choroidal folds
peeling and removal (Fig. 2-3).
• Combined hamartoma of the retina
• Rarely, the membrane may spontaneously
• Retinal pigment epithelium release, leading to resolution of symptoms.
46 2 MACULAR DISEASES
FIG'UllB 2r1. Mamlar epirdinal membnne. Glistemng membrane over the m acula cauaing diatortion of
central retina.
FIGUBB 2..-2. Mamlar epirdinal membrane. A. 'Iliic:k. membrane over the macula causing diBtortion of
the central retina.
(continued)
Macular Epiretinal Membrane 4 7
PIGUJlB 2--2, (Continued) MKa1ar eplntim1 m.emlmuae. B. Fluorescein angiogram 1howing diltortion of the
macu1ar retina. C. Late-ph.ue ftuorescein angiogram showing intraret:inal leakage of dye from di1torted retinal
vessels.
FIGVllB 2..-3. Macular epintinal membrane. A. Preoperative appearance of membrane (inlet); vUual acuity
wu 6/60. Note the retinal fold• and retinal vucular compression and tortuo•ity. B. Postoperative appearance
of membrane (Inset); 'Visual acuitywu 6/12. 'Ihere is less retinal vascular tortuoidty.
Idiopathic Macular Hole 4 9
the second eye. Patients with a full-thickness

IDIOPATHIC MACULAR
macular hole in one eye and a normal retina
HOLE with PVD in the fellow eye are at very little
risk of progressing to macular hole in the
diopathic macular hole is an acquired full-
I thickness defect of retina in the central
macula.
second eye.
HISTORY
EPIDEMIOLOGY • Patients usually report decreased visual
AND ETIOLOGY acuity with central scotoma. 'There may be
metamorphopsia.
• Idiopathic macular holes typically occur in
• Often patients notice decreased vision in
the sixth through eighth decades oflife with a
the affected eye when the fellow eye is inciden-
3: I predominance in women.
tally covered as for a routine eye examination.
• 'The incidence of bilaterality is 5% to 10%.
• Tangential vitreoretinal traction is the
presumed cause ofdevelopment ofidiopathic IMPORTANT CLINICAL SIGNS
macular hole.
• 'The Gass classification ofthe stages of • Depending on the stage and severity of
idiopathic macular hole development is the macular hole, the visual acuity may be
helpful in understanding the progression of near normal or severely reduced to less than
the disease and the biomicroscopic findings 20/400.
(Table 2-1). • Amsler grid testing will often reveal
• Patients with a full-thickness macular hole metamorphopsia or a central scotoma.
in one eye and an impending macular hole Ophthalmoscopy and slit-lamp biomicros-
with no PVD in the fellow eye are at substantial copy reveal findings consistent with the stage
risk ofprogression to stage 2 macular hole in ofthe macular hole.
TABLB 2·1. Stages of Development of Idiopathic Macular Hole

Stage lA Early contraction ofouter part ofvitreous cortex with foveolar det:.aclunent (impending macular
bole)
Stage lB Furthervitreous contraction and condensation ofthe prefuveal vitreous cortexwith foveal
detachment (impendingmacular hole)
Stage2 Small (<4-00 µm) perifoveal debiscence
Stage3 Larger (>400 µm) central full-thickness hole usuallyaccompanied by a rim ofretinal elevation;
the post.erior cortical vitreous remains attached; there may be a small operculwn overlying the
macular hole
Stage4 Macular hole has an associated complete posterior vitreous detachment; these holes are usually
large (>WO µm).
Based on Gass JD. Reappraisal ofbiomicroscopic classification ofstages ofdevelopment ofa macular hole.Am JOpthalmoL
1995;119:752-759.
Stage 1 holes appear as a small yellow eyes with stage 2, 3, or 4 macular holes
cyst or ring around the fovea with a loss of will reveal early central hyperfluorescence
the foveal depression (Fig. 2-4). in the fovea corresponding to loss of xan-
Stage 2 holes appear as a small round or thophyll pigment and retinal pigment epi-
crescent-shaped defect in the fovea (Fig. 2-S). thelial depigmentation and atrophy at the
base of the hole. OCT clearly distinguishes
Stage 3 holes have a dark round defect
between partial- and full-thickness holes.
in the fovea, often with a cuff of subretinal
(Fig. 2-9).
fluid accumulation (Fig. 2-6).
Stage 4 holes are often larger than stage
3 holes and are associated with a PVD
(Fig. 2-7). PROGNOSIS AND
• There are often small yellow dots in the
MANAGEMENT
center of the hole at the level ofthe retinal
• No treatment is recommended for stage 1
pigment epithelium (Fig. 2-8).
macular holes because these resolve sponta-
neously in 50% of cases. Spontaneous resolu-
ASSOCIATED CLINICAL tion of more advanced stages of macular hole
SIGNS can occur, but it is rare.
• Vitrectomy can be performed for more
• The Watzke-Allen sign is the patient's
advanced stages of macular hole. The surgery
description of discontinuance in the center of
consists of a standard pars plana vitrectomy,
a thin slit beam shone over the fovea.
peeling of the posterior hyaloid, and injec-
tion of a long-acting gas such as perfluoro-
DIFFERENTIAL DIAGNOSIS propane. Peeling of the internal membrane
may also be done. Patients must then main-
• Macular epiretinal membrane with tain face-down positioning for 1 to 2 weeks
pseudohole to allow the gas bubble to tamponade the
• Cystoid macular edema hole. Recent evidence suggests that face-
• Central serous retinopathy (CSR) down positioning is not as critical as once
believed, but this needs to be studied further.
• Choroidal neovascular membrane
The success rate for macular hole surgery
• Solar retinopathy approaches 80% to 90% with closure of the
• Adult vitelliform dystrophy hole and improvement in visual acuity
(Fig. 2-10).
DIAGNOSTIC EVALUATION • Negative prognostic indicators
include a long duration of hole presence
• Clinical examination alone is often (i.e. greater than 1 year) and larger size of
diagnostic. Fluorescein angiography in the hole.
ldiopathic Macular Hole 51
FIGURE 2-4. Idlop&thic: .mac:alar hole, •tap 1. A. Stap 1 macular hole with yellow ring appearance around
the fovea. Vmial acuity rem.aim 6/7.S. B. Optical coherence tomography 1howing stage 1 macuiar hole.
S2 2 MACULAR DISEASES
FIGURE 2-5. Idlop&thic: .mac:alar hole, •tap 2. A. Stap 2 macular hole appea.rs u a 1maD round defect in the
fovea (inset). B. Optical coherence tomogn.phy showing ttage 2 macular hole with persistent traction on one
edge of the hole.
ldiopathic Macular Hole 5 3
FIGUU 2-6. 1.dlopatbic macalar hole, •tage ~. A. Stage 3 macular hole with cuif of subretinal fluid around
the hole. B. Optical coherence tomography showing stage 3 mac:War hole.
FIGURE l·7. Idiopathic .mac:ular hole, •tap 4. A. Stage 4 maatlar hole; note condeued vitreoua of po.teri.or
vitreoua detachment owrlying inferotemporal vascular arcade (arrow). B. Optical coherence tomography
showing stage 4 macular hole.
ldiopathic Macular Hole 5 S
FIG'UllB 2--8. Idlopatldc m.acu1ar hole, daronk. A. Chronic stage 4 macular hole with subretinal precipitates
(inset). B. Retinal pigment epithelial rins around mac:ular hole indicates chronicity.
FIGUllB 2-9. Idiopathic mllCUlar hole. Optical coherence tomography (OCT) o£ stage 4 macular hole showing
complete defect in retina.
ldiopathic Macular Hole 5 7
FIGVllB 2..-10. Idiopathic: macalar laole. A. Preoperative appeannce ofstage 3 .ow:ular hole (yellow spots are
incidental clrusen)• .B. Postoperative appearance of stage 3 macular hole; note closed appearance of hole. VDion
improved to 6/12 from 6/30.
VITRBOMACULA R DIFFERENTIAL DIAGNOSIS

TRACTION SYNDROME
• Macular epiretinal membrane
• Combined hamartoma ofthe retina and
V itreomacular traction syndrome (VMTS)
is an acquired condition in which there is
partial separation ofthe posterior hyaloid with
retinal pigment epithelium
persistent attachment to the macula and, occa-

DIAGNOSTIC EVALUATION
sionall~ the optic nerve head.
• Fluorescein angiography may reveal retinal

EPIDEMIOLOGY vascular distortion and leakage. 'Ihere may
AND ETIOLOGY be cystoid macular edema and optic nerve
edema.
• VMTS occurs in the same age group as • Spectral-domain OCT helps determine
those who develop PVD. PVD is uncommon the presence ofVMTS as well as associated
before 50 years of age and is present in over macular edema and tractional detachment.
50% ofpeople aged 70 years and older.
PROGNOSIS AND
HISTORY MANAGEMENT
• Patients who have VMTS experience • Occasionally patients may experience

progressive distortion and visual loss, which spontaneous improvement ifPVD occurs.
is often more severe than that occurring with • Surgical intervention is indicated ifvisual
macular epiretinal membrane. acuity is reduced to 20/ 70 or worse. During
vitrectomy surgery, the posterior hyaloid is
IMPORTANT removed, as are any epiretinal membranes in
CLINICAL SIGNS the macular region. 'Ihe retinal architecture
can be restored to a normal appearance. The
• 'The posterior hyaloid is visibly thickened. vision can be improved but usually complete
There is macular distortion, often with tractional recovery does not occur due to residual
retinal detachment in the macula. Retinal striae macular edema.
may be present. 'There may be traction in the • Phannacologicvitreofysiswith microplasmin
peripapillary region. An epiretinal membrane is currently under investigation for the treatment
may be seen clinically (Fig. 2,..1 l }. ofVMTS, with promising initial results.
Vrtreomacular Traction Syndrome 59
PIGURB 2-11. Vltreomacalar traction 9J11clrome. A. Adhelion of the vitreous to a prem.acular membrane
elevates the fovea and creates ma.c:ular distortion. B. OCT showing vitreoma.cular traction. C. Severe
vitreomacular traction may lead to secondary macular hole formation.
ASSOCIATED
CYSTOID MACULAR
CLINICAL SIGNS
EDEMA
• There may be no associated clinical signs
ystoid macular edema (CME) is the result
C of accumulation of intraretinal fluid in
the perifoveal region. Pluid accumulates in
when CME occurs after cataract surgery.
However, CME is more common after compli-
cated cataract surgery in which there has been
cystic spaces that may be visible clinically and
rupture ofthe posterior capsule and vitreous
on fluorescein angiography.
loss. Such findings as vitreous t.o the wound, iris
to the wound, iris atrophy, and an opening in
EPIDEMIOLOGY the posterior capsule may therefore be present
AND ETIOLOGY • When CME is present in association with
other ophthalmic diseases, then the findings
• CME is most commonly seen after cataract ofthose entities will be present. For example,
surgery. Other types of ocular surgery, such as pigment migration into the retinal midpe-
trabeculectomy, laser photocoagulation and riphery will be present in patients with CME
cryoretinopexy, may also give rise to CME. in association with retinitis pigmentosa, and
• Less commonly, CME is seen in associa- diffuse intraretinal hemorrhages will be pres-
tion with diabetic retinopathy, CNY, uveitis, ent in patients with CME in association with
retinal vein obstruction, perifoveal telan- retinal venous occlusive disease.
giectasis, retinitis pigmentosa, and other
entities. DIFFERENTIAL DIAGNOSIS
HISTORY • CNV
• Diabetic m.acular edema
• CME following cataract surgery typi-
cally has its onset 6 to 10 weeks after surgery.
Patients experience an initial improvement in DIAGNOSTIC EVALUATION
vision only to be followed by decreasing cen-
tral vision in the range of 6/40 to 6/100. • Fluorescein angiography is helpful in estab-
lishing the diagnosis ofCME. Fluorescein
IMPORTANT angiography shows accumulation of dye in the
CLINICAL SIGNS perifoveal region in a petalloid pattern
(Fig.1.-12B). There is often leakage of dye
• When CME is present in the post-cataract from the optic nerve head (Fig. 2-12C),
surgery patient, there is often no abnormality often called Irvine-Gass syndrome. The foveal
noted in the anterior segment. avascular zone is not enlarged in uncompli-
• On slit-lamp biomicroscopy, patients will cated CME.
have cystic spaces in the perifoveal area • Angiographic CME may be present in as
(Fig. 2-12A), best seen by narrowing the slit many as 6096 of patients following routine
beam adjacent to the fovea. There will also be cataract surgery. Clinically significant CME,
thickening ofthe central macula and, occa- in which patients are symptomatic, occurs in
sionally, tiny round intraretinal hemorrhages 296 to 1096 of patients following uncompli-
at the edge ofthe foveal avascular zone. cated cataract surgery.
Cystoid Macular Edem.a 61
PROGNOSIS AND frequencies of administration and combination

MANAGEMENT of agents. A typical starting regimen is topical
prednisolone acetate and a topical NSAID 4
• Most patients who suffer postoperative times daily for several months. For unrespon-
CME will undergo spontaneous resolution sive cases, periocular or intravitreal corticoste-
within 6 months. Therapeutic intervention roid injection can be considered. Alternatively,
is indicated if patients are symptomatic with intravitreal anti-VEGF or low-dose systemic
decreased vision. acetazolamide can be considered.
• There is no single accepted regimen for • Surgical intervention with Nd:YAG laser
management ofpostoperative CME. The vitreolysis for thin strands ofvitreous trapped
most common therapies are topical or peri- in the cataract wound or vitrectomy for more
ocular corticosteroids, topical nonsteroidal extensive vitreous or iris incarceration or vit-
anti-inflammatory drugs (NSAIDs), and reomacular adhesion may result in resolution
oral carbonic anhydrase inhibitors in various of CME.
PIGUllB 2..-12. Cptoid macalar 8dema. A. 'Jhe normal foveal reft.ez ii lost and there are cystold changes in
the central ma.c:ula. B. Early arteriovenou.s transit phase ftuorescein angiogram showing leakage of dye in the
perifoveal area.
(continued)
Cystoid Macular F.dema 6 3
PIGURB 2'" 11. (Continued) Cywtoid lllK8lar edema. C. Late-phue fiuoresc:ein angiogram mowing •petailoid..
pattern of dye leakage in addition to leakage of dye from the optic: nerve head. D. OCT mowing cystoid mac:W.ar
edema.
the retina and retinal pigment epithelium. The

POLYPOIDAL CHOROIDAL vascular lesions may be seen with slit-lamp bio-
VASCULOPATHY microscopy as reddish orange spheroidal or pol-
ypoidal lesions. The lesions have a predilection
olypoidal choroidal vasculopathy (PCV)
P is an idiopathic hemorrhagic disorder of
themacula.
for the peripapillary area but may be seen eJse-
where in the macula and even in the periphery.
• Rarely, bullous or total serosanguineous
retinal detachment with or without vitreous
EPIDEMIOLOGY AND hemorrhage may occur.
ETIOLOGY
ASSOCIATED
• PCV is a disorder ofthe inner choroidal CLINICAL SIGNS
vasculature in which there is a network of
branching vessels deep to the choriocapil- • Systemic hypertension is often associated
laris in association with terminal aneurysmal with severe PCV with visual loss.
dilations. It is assumed that PCV represents
a form ofCNY. However, polypoidal CNV
DIFFERENTIAL DIAGNOSIS
behaves differently from other forms of
CNY, and the visual prognosis is better
• Age·related macular degeneration with CNV
compared with CNY.
• Central serous choroidopathy
• PCV was initially described in elderly
black women but is now known to occur in • Retinal pigment epithelial detachment
all races with preponderance in heavily pig-
mented individuals. DIAGNOSTIC EVALUATION
• Men are equally affected as women.
• The average age ofonset ofpolypoidal • Serosanguineous detachments of the
CNV is much younger than that of age-related retina and retinal pigment epithelium may be
macular degeneration, but the range ofage seen clinically (Fig. 2-13A).
at onset is wider (less than 25 to more than • Fluorescein angiography is usually not an
85 years}. Lesions are usually bilateral, but effective imaging technique, because the fluo-
patients have been followed for years with rescence ofthe choriocapillaris often masks
unilateral involvement. the vascular lesions (Fig. 2-13B, C).
• Indocyanine green angiography, which
HISTORY better images the choroid, often provides the
best visualization ofthe active lesions. 0 CT
• Patients with PCV present with decreased is useful to follow macular involvement.
and distorted vision ifserosangumeous com-
plications occur in the macula.
PROGNOSIS AND
IMPORTANT MANAGEMENT
CLINICAL SIGNS
• The serosanguineous lesions may resolve
• Patients with PCV may develop chronic spontaneously without progressing to fibrous
recurrent acute serosanguineous detachments of proliferation. The vascular lesions may
Polypoiclal Choroiclal V:uculopadiy 6 S
involute during periods of disease inactivity, outside the fovea often leads to regression
making diagnosis difficult. In contrast, the of the entire lesion. 'Ibis is unlike the experi-
vascular lesions may continue to grow and ence with CNV due to age-related macular
repeatedly bleed. 1hese lesions may then degeneration, in which the entire lesion must
develop fibrovascular scarring. Patients may be treated to prevent further hemorrhagic
suffer severe visual loss. 'freatment for sys- complications.
temic hypertension, ifassociated with PCV, • Intravitreal anti-VBGF agents have lim-
may be important in limiting the severity of ited effectiveness in PCV, although a trial
the disease. is often utilized with macular involvement.
• Laser photocoagulation can be considered, Anti-VEGF therapy may have more effect
especially for serosanguineous complications as adjunctive therapy to other modalities.
under the fovea. Treatment to the active pol- Ocular photodynamic therapy may be consid-
ypoidal CNV or to the aneurysmal changes ered for subfoveal lesions.
PIGURB 2.-13. Polypoidal dloroidal ftllc:ulopatlry (PCV). A. .Areu of 1eroADguineoua retinal detachment in
the nw:u1a (arrows). (continued)
PIGUJlB 2'"13. ( Contin11ed) PolypohW choroldal vunlopathy (PCV). B. Venoua filling ph.ue ftuorescein
anglogram showing network ofbranc:hhlg choroidal vaaels (am>Ws). C. Late-phue ftuorescetn anglogram
showing leakap of dye in the choroid and terminal aneurysmal dilatiom.
Degenerative Myopia 6 7
The disc itselfmay be vertically elongated or

DEGENERATIVE MYOPIA tilted, or both (Fig. 2-148).
egenerative myopia describes a retinal • Central macular abnormalities may lead
D degenerative condition that consists of
thinning ofthe retinal pigment epithelinm and
to visual loss.Gyrate areas ofatrophy in
the posterior pole may involve the foveal
choroid, retinal pigment epithelial atrophy; region. Lacquer cracks, which are spontane-
CNv, and subretinal hemorrhage in patients ous linear breaks in Bruch's membrane, may
with progressive elongation of the eye from be located in the fovea {see Fig. 2-14B).
myopia usually greater than 6 diopters. Lacquer cracks are present in 4% ofhighly
myopic eyes. Spontaneous subretinal hemor-
rhage without CNV may arise from lacquer
EPIDEMIOLOGY cracks (Fig. 2-14C). Fuchs' spots are round
AND ETIOLOGY areas of subreti.nal hyperpigmentation,
occasionally with surrounding atrophy, that
• The prevalence of degenerative myopia are thought to represent areas of previous
varies among different races and ethnic groups. subretinal hemorrhage or CNY. Fuchs' spots
are seen in 1096 ofhighly myopic eyes after
• Degenerative myopia is more prevalent in
the age of 30.
women than in men.
ASSOCIATED
HISTORY
CLINICAL SIGNS
• Patients with degenerative myopia may
slowly lose central vision due to progressive • CNV develops in 596 to 1096 of eyes
atrophy ofthe macular region. More abrupt with an axial length greater than 26.S mm
vision loss may occur from macular subretinal (Fig. 2-14D). CNV is often seen in associa-
hemorrhage or CNY. tion with lacquer cracks. Posterior pole staph-
yloma, an excavation in the posterior pole
• Spontaneous improvement in vision may
associated with chorioretinal atrophy, may be
occur if subretinal hemorrhage not associated present (Fig. l-14E).
with CNV resorbs.
• Diffuse pigmentary alteration and patchy
or diffuse areas of chorioretinal degeneration
IMPORTANT may be present in the retinal periphery
CLINICAL SIGNS (Fig. 2-14F, G). PVD is more common and
occurs at an earlier age in patients with degen-
• The clinical findings ofdegenerative erative myopia. Although lattice degeneration
myopia are thought to be due to progressi:re is not more common in degenerative myopia,
elongation of the globe. The hallmark find- patients are at an increased risk ofretinal tear
ing is the so-called myopic crescent ofretinal and retinal detachment.
pigment epithelial atrophy adjacent to the
optic nerve (Fig. 2-14A).1his atrophic area
is usually at the temporal aspect ofthe disc. DIFFERENTIAL DIAGNOSIS
However, the atrophy may be located any-
where around the circumference ofthe disc • Tilted disc syndrome
and may extend through the central macula. • Optic disc coloboma
• Preswned ocular histoplasmosis degenerative effects upon the retina. Scleral

• Age-related macular degeneration reinforcement and resection techniques have
been reported to limit the elongation of the
• Gyrate atrophy
globe, but stabilization or improvement in
vision has not been decisively demonstrated.
DIAGNOSTIC EVALUATION • Anti-VEGF therapy is effective in treat-
ing eyes with myopic CNv: Laser photo-
• History, refractive error, and axial length coagulation is a second line therapy, and
measurement in association with the myriad should be considered carefully as the CNV
findings on ophthalmoscopy all aid in the often remains small without treatment.
diagnosis of degenerative myopia. Furthermore, spreading ofthe atrophic
• Fluorescein angiography and OCT are photocoagulation lesion may lead to further
helpful to assess for CNv: visual loss.
• Ocular photodynamic therapy with verte-
PROGNOSIS AND porfin for subfoveal CNV may be useful.
MANAGEMENT • CNV lesions in degenerative myopia, in
distinction from those in age-related macular
• There are no proven therapies to pre- degeneration, may remain stable without signif-
vent the progression of myopia and its icant visual loss when no treatment is applied.
FIGURB 2..-14. Degenerattve myopia. A. Temporal myopic crescent. Note "thinning• of retinal pigment
epithelium (inset .reveals true borders of optic nerve).
(continued)
DegenerativeMyopia 69
FIGVllB 2..-14. (Continued) Degeaeratift myopia. B. Prominent tilted disc with temporal crescent and lacquer
c:ra.clt abow fovea ( mrow). C. Spontaneous subretinal (foveal) hemorrhage from lacquer c:ra.clt without choroidal
neovucularization (CNV).
(continued)
FIGlJJlB 2..-14. (Continued) DepaeratiR myopia. D. Subfoveal CNV (IUTow) with pigmentation and shallow
subretinal fluid. E. A posterior staphyloma ii present around the optic nerw.
(continued)
DegenerativeMyopia 71
FIGVllB 2..-14. (Continued) Degeaeratift myopia. F. Extensive chorioretinal atrophy in po1terior pole and
periphery in the right eye. G• .&.tenaive chorioretinal atrophy in posterior pole and periphery in the left eye.
of vision loss due to rupture of the CNY, sub-

ANGIOID STREAKS retinal hemorrhage, and scarring (Fig. 2--17).
ngioid streaks are red or brown irregular • Patients with pseudoxanthoma elasticum
lines that radiate from the optic nerve may have an additional fundus finding. There
head. They represent breaks in thickened and may be a fine stippled appearance to the fun-
calcified Bruch's membrane. dus referred to as peau d'orange (like skin of
an orange) most commonly seen in the tem-
poral midperiphery (FJg.2--18).
EPIDEMIOLOGY
Patients with this disease have abnormal
AND ETIOLOGY
dermal elastic tissue. 'Ihey have loose skin
folds in the neck and on the flexor aspects
• Angioid streaks are idiopathic 50% of
ofjoints. They may suffer cardiovascular
the ti.me but are also seen in association
disease from abnormal elastic tissue in
with certain systemic diseases. The systemic
blood vessel walls. 'Ihey may develop gas-
disease most commonly associated with
trointestinal bleeding.
angioid streaks is pseudoxanthoma elasticum,
or Gronblad-Strandberg syndrome. Other • Patients with Paget's disease (ost:eitis
systemic conditions associated with angioid deformans) have abnormal bone destruction
streaks are Paget's disease ofbone, sickle cell and formation. They typically suffer from
anemia, and Ehlers-Danlos syndrome. headache, enlarged skull, enlarged digits,
bone fractures, and cardiovascular complica·
HISTORY tions. Approximately 10% of patients with
Paget's disease develop angioid streaks late in
• Patients are asymptomatic unless they the course oftheir disease. These patients may
develop CNV in association with their angioid also suffer visual loss from optic nerve com-
streaks. When CNV develops, patients compression by enlarging bone.
plain of decreased and distorted central vision. • Angioid streaks develop in 196 to 296 of
patients with sickle cell bemoglo binopathy.
IMPORTANT Patients with Ehlers-Danlos syndrome have
CLINICAL SIGNS hyperelasticity ofthe skin and hyperflex-
ibility ofthe joints due to abnormal collagen
• Angioid streaks may appear as light red- organization.
orange to dark red-brown. The streaks may
form a concentric ring around the optic nerve
(Fig. 2-15). They may extend through the
macula and into the periphery. They may be
• Traumatic choroidal rupture
thin or four times the width of retinal ves-
sels. They are usually bilateral. Over time the
streaks may become more atrophic. DIAGNOSTIC EVALUATION
ASSOCIATED • In the early phase offluorescein angiog-
CLINICAL SIGNS raphy angioid streaks appear as hyperfluo-
rescent lines due to atrophy of the overlying
• CNV can be associated with angioid retinal pigment epithelium. As in any condi-
streaks (Fig. 2--16) and is the leading cause tion associated with disruption of Bruch's
Angioid Streaks 7 3
membrane, CNV may occur. Typical findings therapy may become useful for patients
of early hyperfluorescence of CNV with leak- with subfoveal CNV in association with
age may be seen on fluorescein angiography. angioid streaks that is resistant to anti-VEGF
therapy.
• Patients with angioid streaks should be
PROGNOSIS AND particularly cautious regarding ocular trauma
MANAGEMENT (Fig. l-19). Safety glasses should be worn
because these patients are more susceptible to
• When patients have angioid streaks, choroidal rupture and hemorrhage from direct
they remain at risk for CNY. There are no blows to the eye. Patients with angioid streaks
measures available to prevent the develop- should have a general medical evaluation to
ment of CNY. If patients develop extrafoveal assess for systemic associations, especially
or juxtafoveal CNv, intravitreal anti-VEGF because some ofthe manifestations, such as
and/ or standard laser photocoagulation cardiovascular disease and gastrointestinal
can be considered. Ocular photodynamic bleeding, are potentially life threatening.
FIGUllB 2-15• .A.n.&fold atreab, orange atreab. Orange lines around the optic: nerve with eztensiom
throughout the posterior pole.
FIGURE 2.-16. Anglold .treab. A. Subretinal hemorrhage and retinal elevation adjacent to angioid
streak is highly suggeative of cboroidal neovucular:ization. B. Pluoracein ang:logram. confirma cboroidal
neovascularization.
Angioid Streaks 7S
FIGUKB 2-17. Aftgioid nreu., CNY. Severe nw::War scarring after rupture of CNV and. hemorrhage (note
peau d'orange appearance temporally).
FIGUKB 2.o-18. Aftgioid .a.ab. A. Pigmented streaks with subretinal hemorrhage.

(continued)
FIGUllB 2-11. ( Cotttlnu£d) Aagioid atreW. B. Peau d'orange appearance iD. the temporal periphery.
PIGUllB 2-19. Angiold meab, traamatlc aubretlnal hemonhage. Patient with bilateral angioid streab
(A, right eye; B, left eye) was punched in the left eye and auffered extenaive subretinal hemorrhage. 'Ih.e
tubretinal hemorrhage eventually resolved, but left severe scarring ( C) and visual loa.
(continued)
Angioid Streaks 77
FIGVllB 2..-19. (Continued)

serous detachment (Fig. 2-20). Patients

CENTRAL SEROUS with chronic or recurrent episodes may
RETINOPATHY have patches of retinal pigment epithelial
atrophy.
SR is a disease in which a circumscribed
C serous detachment of the neurosensory
retina develops, usually confined to the pos- ASSOCIATED
terior pole. There may be an associated serous CLINICAL SIGNS
detachment ofthe retinal pigment epithelium.
CSRis usually an idiopathic condition but may • There may be yellow spots; subretinal pre-
be seen in the setting ofcorticosteroid use. cipitates offibrin deep to the detached retina
(Fig. 2·21).
EPIDEMIOLOGY • Often patients will have pigment epithelial

clumping from prior episodes in either the
AND ETIOLOGY involved or the fellow eye, or both (Fig. 2-22).
• CSRusually occurs in healthy young to • Occasionallypatients will have an associ-
middle-aged men, although women mayalso be ated serous detachment ofthe retinal pigment
affected. The exact etiology ofCSRis unknown. epithelium (Fig. 2-23).
A diffuse abnormality ofthe retinal pigment • Rarely patients will have diffuse detach-
epithelium and choroid is likely because fluid ment ofthe posterior pole with gravity-depen-
resorption is impaired. Recent evidence indi- dent pooling of.fluid inferiorly (Fig. 2-24).
cates a posSible link to active gastrointestinal This may lead to •gutters" ofretinal pigment
Hdtcobacter pylori infection, although this asso- epithelial alterations created by subretinal
ciation needs to be substantiated. fluid that gravitates inferiorly.
• CSR is reportedly more common in
patients with a so-called type A personality. DIFFERENTIAL DIAGNOSIS
Patients being treated with corticosteroids
can have particularly severe CSR. • CNv, especially in older patients
• Optic nerve pit with neurosensory macular
HISTORY retinal detachment
• Posterior scleritis
• Patients may be asymptomatic unless
the central macula is involved. Symptomatic • Harada's disease
patients experience sudden onset of • Rhegmatogenous retinal detachment
decreased central vision with metamorphop- • Circumscribed choroidal hemangioma
sia. There may be macropsia or micropsia.
• Amelanotic choroidal melanoma
Color vision is often affected, and patients
may notice a relative scotoma.
IMPORTANT CLINICAL
SIGNS • A variety offluorescein angiographic
alterations may be seen in CSR. An expand-
• On fundus examination patients will ing dot ofhyperfluorescence is the most com-
have an elevation in the macula due to mon alteration (Fig. l-1.S).As the angiogram
Central Serous Retinopadiy 7 9
progresses, there is a spot of increasing hyper- reduced contrast sensitivity, decreased color
fluorescence at the level ofthe retinal pigment vision, and metamorphopsia. Rarely, patients
epithelium. In the late phase of the study, have severe visual loss. Recurrences happen in
there is pooling of dye in the neurosensory 20% to 40% of patients.
detachment. • H patients have persistent decreased
• Another less common pattern ofhyperfluo- vision with persistent B.uid beyond 3 to
rescence is a "smokestack" appearance in which 4 months, photocoagulation can be offered to
dye spreads vertically from the retinal pigment the leak spot seen on fluorescein angiography
epithelium (Fig. 2-26A-D). Occasionally, mul- (Fig. 2-l6E).
tiple leakage spots will be seen. • Alternatively, there has been recent success
with the use ofintravitreal anti-VEGF agents
PROGNOSIS AND for the treatment ofpersistent CSR. For unre-
MANAGEMENT sponsive sub.foveal lesions, photodynamic
therapy can be considered. Patients with occu-
• Implicated corticosteroids should be pational needs for improved vision or return
immediately discontinued. Most patients of stereoacuity can be considered for earlier
undergo spontaneous resolution in 1 to 3 treatment. Careful follow-up after laser photo-
months. However, there may be mild residual coagulation is necessary because patients may
symptoms, including decreased central acuity, develop CNV at the treatment site.
FIGUU 2.-20. Central 1eroaa retinopatlry, HrOU macalar detachmenL Seroua retinal detachment in the
ma<:Ula.
PIGUU 2--21. Central Ml'Olll retbaopathy, 6.briD. fomud:ioD., Subretinal fibrin precipitation in serous
detachment of the mac:ula (amiw ).
PIGUU 2.-ll. Central Hl"0111 retiaopathy, retinal pigment eplthellal altentlom. Retinal pigment epithelial
clumping in the ma.cula following resolution ofserous detachment (inlet).
Central Serous Retinopadiy 81
FIGVllB 2..-23. Central llel'Oa. retillopatlry. A. l!.arlier pbue of diaeue in 1ame patient as in Pig. Z..22. Note
1eroua detachment of the retinal pigment epithelial superotemporal to the optic: nerve and fibrin ac:c:umulation
in the 1eroua detachment of the macu1a. B. Fluoresc:e.in angiogram c:onfirms 1erowi detachment of retinal
pigment epithelium adjacent to optic: nerve.
FIGUllE 2.-24. Centn1 •erou retinopathy. A and B. Patient with rec:urrent CSR (note unall 1erous detadiment
of macula) who had prior episode(•) ofserous detachment that led to gravity-dependent pooling offluid inferiorly
u evidenced by retinal pigment epithelial alteratioDB ..,.+encfing into the inferior periphery.
(continued)
PIGURB 2,-24. (Continued) Centnl Hl'0111 retin.opathy. C and D. Fluorescein angiogram •bowing
hyperiluore1cence atending from the macula to the iDferior periphery due to retinal pigment epithelial
alteratiom &om fluid pooling.
FIGlJllB 2'-25. Ceatnl llG'01lll retlnopatlry. A. Large serow detachment of the .uw:ula with fibrin under retina.
B, C and D. ProgreNive enlargement of•pot ofbyper6.uorescence on iuoracein angiography (arrow).
(continued)
Central Serous Retinopadiy 8 s
PIGUllB 2.--25. (Continued)

PIGUllB :i..-26. Central HrOU ntlnopathy, •smobftack• t.uap. A. Small serous detachment of the macula
with retinal pigment epithelial alterations. B and C. •smobatatl• appearance ofdye leakage on fluoreacein
angiography.
(eoniinuetl)
PIGUJlB 2--26. (Continued) Cenlral Ml"0111 retm.opathy, •lm.Okeetadt• Je1kage. D. Fluoresc:ein angiogram
showing multiple leabge apota ofboth the expanding dot and •smokestack" type of leakage.
(continued)
FIGURB 2-26. ( Cotltinued) Central •ero1111 retinopathy, pod-luer treetment. E. Ten weeks after luer
photocoagulation. There ii complete resolution of sul>retinal fluid but residual retinal pjgment epithelial
alteratiODI. Viaion Jmpl'Oftd from 6/ 30 to 6/ 9.
Choroidal Folds 89
CHOROIDAL FOLDS IMPORTANT

CLINICAL SIGNS
F olding or wrinkling of the inner choroid,

Bruclis membrane, retinal pigment epi-
thelium, and inner retina is known as choroi-
• Alternating light and dark streaks are
seen in the posterior pole in patients with
dal or chorioretinal folds. choroidal folds (Pig. 2-27A). 'Ihe folds may
be horizontal, vertical, or oblique in orienta-
tion (Fig.2-27B).
EPIDEMIOLOGY
AND ETIOLOGY
ASSOCIATED
• Choroidal folds are usually idiopathic, but CLINICAL SIGNS
they can be seen in association with other
ocular abnormalities, including: • There may be no associated findings ifthe
folds are idiopathic or associated with hyper-
Hyperopia
opia. H there is another ocular condition, then
Orbital tumors there may be additional signs related to the
Posterior scleritis cause of the folds, such as proptosis in asso-
Scleral buclcling surgery ciation with an orbital tumor.
Choroidal tumors
Hypotony DIFFERENTIAL DIAGNOSIS
CNV
• Retinal folds (e.g., from macular epireti.nal
Chorioretinal scarring membrane or retinal detachment)
• They may be unilateral or bilateral
HISTORY
• On fluorescein angiography, alternating
• Patients with long-standing choroidal folds hyperfluorescent and hypofluorescent bands
are usually entirely asymptomatic. '!hose with are seen. The crests of the folds are hyper-
acute onset of folds are usually symptomatic, .fluorescent, and the troughs hypofluorescent
with decreased vision and metamorphopsia. (Fig. 2-27C).
FIGVllB 2..-27. Charoldal folda. A. Alternating light and dark 1treab through the macu1a.. B. Obliquely
oriented alternating light and dark streaks above the mac:ula.
(continued)
Choroidal Folds 91
PIGURB 2.-27. ( CcmtinMed) Chmutdal fo1U. C. Fluoretcein angiogram mowing alternating hypedluorescent
and hypoftuorucent bands.
segment signs consistent with surgery or

HYPOTONY trauma.
MACULOPATHY
• Hypotony maculopathy is a condition DIFFERENTIAL DIAGNOSIS

in which chorioretinal folds develop in the
posterior pole ofpatients with chronically low • Chorioretinal folds from other causes:
intraocular pressure. Idiopathic
Hyperopia
EPIDEMIOLOGY Orbital tumors
AND ETIOLOGY Posterior scleritis
• Scleral buckling surgery
• Patients with chronically low intraocular • Choroidal tumors
pressure from a wound leak., cyclodialysis
Hypotony
cleft, or excessive filtering after glaucoma sur-
gery may develop secondary retinal changes. CNV
Chorioretinal scarring
HISTORY
• Patients will experience loss ofcentral
vision from the chorioretinal folds. • Fluorescein angiography will demonstrate
alternating hypofluorescent and hyperfluores-
cent lines corresponding to the folds. Optic
IMPORTANT disc hyperfiuorescence and macular leakage
CLINICAL SIGNS may be observed.
• OCT is helpful in diagnosing patients
• Broad chorioretinal folds radiate out tem-
with reduced vision and an otherwise normal
porally from the optic nerve in a branching
exam. OCT may reveal the retinal folds or
fashion (Fig. 2--28). Nasally the folds are usu-
macular edema.
ally arranged concentric to the optic nerve or
have an irregular arrangement.
• The macular retina may be thrown into
radiating folds around the fovea distinct from
PROGNOSIS AND
the choroidal folds. MANAGEMENT
• The peripapillary choroid is often swollen,
• Surgical correction of the underlying cause
mimicking optic disc edema.
ofhypotony maculopathywill usually result
in resolution of the folds and visual improve-
ASSOCIATED ment Long-standing folds may resolve with
CLINICAL SIGNS treatment, but there may be residual linear
retinal pigment epithelial alterations from
• The intraocular pressure will be low, usu- the chronic folding ofthe retinal pigment
ally less than Smm Hg. There may be anterior epithelium.
HypotDDy Maculopathy 93
FIGUllB 2-21. Hypotony maadopahy. Horizontal and oblique macular folds In a patient with hypotony
maatlopathy after glaucoma surgery.
CHAPTER
Diabetic Retinopathy
]amt.SF. Vandtr •
patients show some retinopathy. Proliferative

retinopathy is very uncommon with less than
iabetic retinopathy encompasses a broad I 0 years' duration ofdisease. Forty percent of
D range of fundus manifestations of dia-
betes mellitus. 'This is a clinical term that
patients have proliferative disease by 25 years.
• The trend for type 2 diabetic patients is
includes exudative, hemorrhagic, ischemic, very similar. Many patients will have asymp-
proliferative, and tractional manifestations of tomatic, occult diabetes for many years prior
this retinal vascular disease. It can be arbitrarily to diagnosis, however, and therefore may
divided into a nonproliferative and a prolif- present with retinopathy even at the time of
erative form. diagnosis of diabetes mellitus.
• Age is another important risk factor in the
EPIDEMIOLOGY prevalence of diabetic retinopathy. Diabetic
retinopathy is very rare prior to puberty.
AND ETIOLOGY Its prevalence increases dramatically after
puberty, however, and over 5096 ofpatients
• Diabetic retinopathy is the leading cause
will develop retinopathy by their early
of blindness in the United States and Western
twenties.
Europe among adults less than age SS years.
It affects both genders and all races, although
African Americans are more frequently and PATHOPHYSIOLOG Y
more severely affected than Caucasians.
• Hyperglycemia is a key factor in the
• The best predictor ofdiabetic retinopathy
development of diabetic retinopathy. The
is the duration of disease. For type 1 diabetic
mechanism ofretinopathy development may
patients there is no rislc ofretinopathy for
be related to:
roughly S years after initial diagnosis. Some
retinopathy is present in up to 5096 of patients Relative hypercoagulability
10 years after diagnosis. After 15 years, 9596 of • Red blood cell abnormalities
94
Nonprolifur.itive Diabetic Retinopathy 95
Excessive glycosylation ofproteins Macular edema- the most comm.on

Enzymatic conversion ofexcessive reason for legal blindness resulting from
glucose by aldose reductase diabetic retinopathy. It is best appreciated
as macular th.iclcening by the use of a high
• Histopathologically, thiclcening ofretinal
magnification slit-lamp examination using
capillary basement membranes and loss of
a hand held or contact lens providing a
pericytes have been shown consistently.
good stereoscopic view (Fig. 3-4).
Modenite Nonprolifmitive Diabetic
HISTORY Retinopatlay
• This degree ofretinopathy is characterized
• Patients are often asymptomatic but may by increased number and size ofintraretinal
have blurry vision or floaters. More extensive hemorrhaging with greater evidence for em-
visual loss occurs with large vitreous hemor- dation as manifested by more HYE (Fig. 3~5)
rhages or retinal detachment. and macular edema than is present in mild
nonproliferative retinopathy. (Standardized
N ONPROLIFERATIVE photographs exist to establish the transition
points between the various stages ofnon-
DIABET IC RETINOPATHY
proliferative retinopath}j but it should be
remembered that this classification reflects a
IMPORTANT continuum ofdisease severity.) In moderate
CLINICAL SIGNS nonproliferative retinopathy one also begins
to see evidence ofcapillary occlusive disease.
• Nonproliferative Diabetic retinopathy This is reflected by the development of:
(NPDR) is the preferred term for this less
Cotton-wool spots (Fig. 3-6)
severe manifestation of diabetic retinopathy.
It may be arbitrarily subdivided into mild, Venous dilation and beading (Fig. 3-7)
moderate, and severe categories. Intraretinal microvascular abnormality
Mild Nonproliferative Diabetic RetimJpathy (IRMA)-flat, intraretinal, irregular blood
vessel (It is sometimes difficult to distin-
• Earliest fundus manifestations of diabetic
guish between IRMA and neovasculariza-
retinopathy. Features reflect retinal capillary
tion ofthe retina. Fluorescein angiography
hyperpermeability. May be manifested as:
can be helpful in making this distinction;
Intraretinal hemorrhage-dot hemor- Fig.3~8B.)
rhages are small mid-level retinal hemor-
• Vision loss in moderate NPDR may be the
rhages (Fig. 3-1).
result ofmacular edema or, less frequently,
Blot hemorrhages- larger, with fuzzier loss ofsome ofthe normal perifoveolar capil-
borders. lary bed. Frequently, both problems may be
Flame-shaped hemorrhages-superli- present.
cial in the nerve fiber layer. Severe NonproUjmiffve RmMpatlay
Microaneurysms-saccular enlarge- • In severe NPDR there is worsening ofthe
ment of retinal capillaries. exudative aspect of diabetic retinopathy and,
Lipoprotein exudation-also known especially, evidence for capillary occlusive
as hard yellow exudate (HYE; Figs. 3-2 changes. More extensive intraretinal hem-
and3~3). orrhaging, venous beading, IRMA, as well
96 3 DIABETIC RETINOPATHY
TABLE 3·1. 4-2-1 Rule Ocular ischemic syndrome

The presence of: Radiation retinopathy (Fig. 3-12)
Severe retinal hemorrhages in 4 quadrants Idiopathic juxtafoveal telangiectasis
or Coats' disease
Venous beading in 2 quadrants Vasculitis (e.g., sarcoidosis, lupus)
or
IRMA in 1 quadrant
Indicates a 5096 risk ofdeveloping proliferative
• The most important aspect of the evalu-
retinopathy within 1 year
ation ofNPDR is a magnified, stereoscopic,
slit-lamp biomicroscopic examination of
the posterior pole and midperipheral retina
as edema and exudate are the features that using a handheld indirect lens or contact
define severe nonproliferative retinopathy lens. A critical determination is the presence
(Pigs. 3-8 to 3-10). The presence of certain or absence of clinically significant macular
fundus features predicts the progression edema (CSME; Table 3-2).
toward proliferative retinopathy (Table 3-1). • Fluorescein angiography is a valu-
able ancillary test in evaluation ofNPDR.
Indications include:
ASSOCIATED
CLINICAL SIGNS Determination oflocation of focal
and diffuse leakage to guide treatment
• Cornea-decrease of corneal sensitivity; (Fig. 3-13)
increased risk abrasion Rule out loss of perifoveal capillaries
• Cataract-typically nuclear and cortical Mechanism for unexplained vision loss
cataract formation is chronic and progressive; Risk factor for vision loss after focal
acute cortical cataract formation with pro- laser
found elevations in blood glucose
Rule out vasculitis or other diagnostic
• Glaucoma-greater incidence of primary possibilities
open-angle glaucoma
• Cranial nerve palsy-isolated palsy, most
TABLE 3-2. Clinically Significant
often sixth
Macular Edema ( CSME)
Retinal thickening within 500 µm center offovea
or
• Other causes of retinal capillary leakage Exudate within 500 µm center offovea with adjacent
and occlusion include: thickening
Hypertensive retinopathy or
Thickening ofat least one disc area any part within
Retinal vein occlusion (branch or
one disc diameter of center offovea
central) (Pig. 3-11)
Note: CSME is a diagnosis based on stereoscopic macular
Hemoglobinopathies viewing independent ofvisual acuity or fluorescein
Anemia or leukemia angiography.
Nonproliferative Diabetic Retinopathy 97
• Optical coherence tomography (OCT) TABLE 3-4. Early Treatment Diabetic

is another ancillary test that is important in Retinopathy Study (ETDRS) Facts
managing diabetic macular edema. OCT pro-
ETDRS treatment ofmacular edema:
vides a noncontrast, photographic method for
determining the presence of fluid within and Generally stabilizes visual acuity but often does
not improve it
under the retina, quantifying the extent of
that fluid and monitor the response to therapy Consists ofdirectly treating focal areas ofleakage
(Fig. 3-14). and placing a grid in areas ofdiffuse capillary
leakage; detennination of treatment placement
is generally guided by the use of a fluorescein
PROGNOSIS AND angiogram
MANAGEMENT Should be avoided in the presence of significant
loss ofperifoveal capillaries
• NPDR tends to progress gradually over May take months to show resolution ofthickening
months to years. The risk ofvision loss and longer for exudates
increases with increasing severity of retinopa-
thy. Treatment of systemic disease reduces
but does not eliminate the risk of progression 2. What is the role of initiating early laser
and vision loss (Table 3-3). Newer medica- (as compared to DRS high-risk criteria;
tions under development may actually reverse Table 3-S) in the management of severe
retinopathy. nonproliferative and early proliferative
retinopathy? Answer: Inconclusive. No
• Ocular treatment consists of macular
strong benefit to early scatter panretinal
laser photocoagulation for macular edema
photocoagulation (PRP) was found.
(Fig. 3-15). Early treatment diabetic retinop-
Certain clinical circumstances (e.g.,
athy study (ETDRS) guidelines are widely
poor compliance with follow-up exami-
applied (Table 3-4). The utility and timing of
nations, rapid progression in fellow eye)
retreatment, the role of early treatment before
may justify early initiation of PRP.
ETDRS threshold is reached, and the applica-
tion of alternative treatment strategies are less 3. What is the role oflaser (PRP or focal
uniformly accepted. macular laser, or both) in the manage-
ment of macular edema? Answer: There
• The ETD RS addressed three questions:
is no role for PRP in treatment of macu-
1. What is the role of aspirin in dia- lar edema. Macular laser is of benefit,
betic retinopathy? Answer: It neither reducing the risk of moderate visual loss
improves nor worsens retinopathy. by 50%. Patients with CSME should be
treated.
TABLE 3-3. Diabetes Control and
Complications Trial (DCCT) TABLE 3-S. Diabetic Retinopathy
Clinical Research (DRCR)
DCCT showed that tightened blood glucose control
reduces: • Macular laser photocoagulation is superior to
Development ofretinopathy by 76% repeated intravitreal injection oftriamcinolone
acetonide for primary treatment of macular edema
Progression ofretinopathy by 8096
in general.
Risk ofnephropathy by about 6096 • Ranibizumab injections are as good (? better) as
Risk ofneuropathy by about 6096 laser for treatment ofCSME at 1 year
• More recently, the use of intravitreal injec- results suggest that steroid injection is not as
tion of pharmacologic agents has provided effective as macular laser for primary treat-
an alternative method for treating macular ment of edema.
edema. The diabetic retinopathy clinical • More recently, injection of anti-VEGF
research (DRCR) studies have assessed the agents bevacizumab and ranibizumab have
utility of some of these agents (Table 3-S). shown a strong positive therapeutic effect
Intravitreal triamcinolone acetonide causes with repeated injections (Fig. 3-16). The
a rapid reduction of macular edema and DRCR preliminary results suggest that ranibi-
subretinal fluid in most cases. The effect is zumab may be superior to focal laser as pri-
generally temporary and side effects include mary treatment, at least for 12 months. These
cataract progression and elevation ofintra- indications are evolving.
ocular pressure, sometimes markedly. DRCR
Nooproliferative Diabetic Retinopathy 99
PIGURB 3-1. Minimal nonproliferative diabetic retinopathy (NPDR).

FIGURE 3-2. NPDR with retinal hemorrhaga md hard yellow uudatet (HYBI).
FIGUllE 3-3. Subtle HYB near fovea in NPDR.

Nonprolifermve DW>et:ic Retinopathy- 10 I
FIGUJlB 3-4. A. htina1 hemorrhage., HYB, and edema .in NPDR. B. Venou. pb.aae intravenous 8.uoreacein
angiogram (IVPA) showing numerous microaneurysms seen as pinpoint dots ofhyperiluoreS<:eDce.
(continued)
PIGURB 3-4. (Continued) C. Leakage from microaneurysim with obscuration of'hypedluorescent dots.
D. Later phue showing more uteuive leakage.
Nonprolifermve DW>et:ic Retinopathy- 10 3
PIGURB 3-5. Mac:ular edema and HYE with blunting of foveal re:tla.
PIGURB 3-6. Cotton-wool apota u well at hemorrhage and HYE.

FIGUllB 3-7. Venom beading (arrow) indicating more severe NPDR.
FIGURB 3-1. A. s~ NPDR.

(continued)
Nonprolifermve DW>et:ic Retinopathy- 10 S
PIGUllB 3-8. (Continued) B. IVFA shows numerous mic:roaneuryams and patdia of capillary nonperfusion
(attawhead). Note abnormal nueh (intraretinal miaovaac:ular abnormalit)J IRMA) along mperutemporal
arcade (atTOWhe11Jd). C. High--powered view of IRMA seen in B. Abtence ofleakage diatinguisha IRMA from
neovaacularlzation.
FIGURE 3·9. Sau.saging of retinal venules (cm-ow) seen in severe NPDR.
FIGURE 3·10. Venous loop.

PIGURB 3-11. Hemorrhages and cotton-wool spots in branch retinal vein ob1truction. N~ the tegmental
diatn'bution of the fundus abnormalities.
FIGURB 3-12. Numerowi cotton-wool spots with a few hemorrhages in a nondiabetic patient with a history of
prior radiation for treatment of a brain tumor.
PIGUllB 3-13. A. Retinal hemorrhages with mild macular edema. B. Bnlargement of the foveal nucular zone
with mic:roaneuryuns near the center of the maada (inset).
(continued)
PIGURB 3-13. (Continued) C. Late leakage from the miaoaneurysmL
PIGURB 3-14. OCT 1how1 cystic edema in central mac:u1a.

FIGUllB 3-15. A. Mac:ular edema and HYE in NPDR. B. Sever.al months afta laser treatment, .raolution of
edema and HYE i• 1een.
Nonprolifermve DW>et:ic Retinopathy- 111
PIGUltB 3-16. A. OCT showt qsti~ macular edema. B. One week after intravitreal bevac:izumab there is
marked reduction In macular thickening.
(Fig. 3·22). Involvement ofthe anterior

PROLIFERAT IVE DIABETIC chamber angle can produce neovascular glau-
RETINOPATHY coma (NVG), leading to a blind, painful eye.
• Vitreous hemorrhage: Bleeding from
roliferative diabetic retinopathy (PDR)
P represents the most severe manifestation
of diabetes in the eye. It is the result of the
NVD or NVE may occur and produce prereti-
nal or vitreous hemorrhage. Vitreous hemor-
rhage is more lilcely when NVD and NVE
loss of normal retinal perfusion and the sub-
are more extensive. Hemorrhages are usu.ally
sequent development ofneovascular prolifera-
spontaneous and produce a sudden devel-
tive tissue in the fundus. The development of
opment offloaters. Preretinal hemorrhage
this neovascular tissue reflects an alteration
reBects sequestration of blood between the
in the balance between angiogenesis inhibi-
inner retinal surface and an intact posterior
tors and stimulators in the retina and vitreous.
hyaloidface (Fig. 3-23). Therefore, this will
Multiple local chemical mediators (cytokines)
generally occur in younger patients. This may
are believed to be at work.
produce a dense, well-circumscribed scotoma
IMPORTANT (Fip. 3-24 ancl 3-2S). Often preretinal hem-
orrhage will subsequently break. apart and
CLINICAL SIGNS
produce more diffuse floaters characteristic of
vitreous hemorrhage (Fip. 3-26 and 3-27).
• NeovuaalarizationofthedUc (NVD):
Vitreous hemorrhage is often recurrent and
Neovascolarization that develops on the
can produce profound visual loss.
surface ofthe optic nerve or within one disc
diameter ofthe optic nerve is defined as NVD
(Figs. 3-17 to 3-19; see also Fig. 3-21 ). MANAGEMENT
Shunt vessels that may develop on the optic
disc (e.g., after a retinal venous obstruc- • The treatment ofproliferative retinopathy
tion) may be easily confused with NVD. is guided by the diabetic retinopathy study
Neovascularization ofthe disc typically has a (DRS; Tablea 3-6 and3-7). Laser PRP as
lacy irregular appearance and may be elevated
above the optic nerve surface. True NVD
should be distinguished from the hyperemic TABLB 3-6. Diabetic Retinopathy
disc swelling ofdiabetic papillopathy. Study(DRS)
• Neovucularization elsewhere (NVE): DRS showed:
'Ibis term refers to retinal neovasculariza-
Risk features for severe visual los.s (defined as
tioo anywhere in the fundus that is not NVD
visual acuity of5/ 200 or worse) are:
(Figs. 3·20 and3·21) . Neovascularization
elsewhere in PDR tends to occur in the NVD > ~ to ~ofdisc area
posterior pole or midperiphery, although Any NVD with associated VH
extreme peripheral NVE can also develop. NVE with associated VH
Neovascularization elsewhere tends to lhese features are known as high-risk charac-
form at the junction between perfused and tcriltia (HRC). Patients with HRC treated with
nonperfused retina, and this can be readily PRP have a 50% reduction in risk ofsevere visual loss.
appreciated with fluorescein angiography.
NVD, neova.sculamation ofthe disc; NVE, neovasc:ularization
• NeovaKUlarb.ation ofthe irU (NVI): elsewhere; PRP, panretinal photocoagulal:i.on; VH, vitreous
Development of NVI is an ominous sign hemorrhage.
Proliferative Diabetic Retinopathy 113
TABLE 3-7. Panretinal Photocoagulation between the vitreous and retina. With
(PRP) Facts contraction of the vitreous as well as the
fibrovascular proliferative tissue, increasing
PRP:
traction on the retina will develop. Sufficient
Does not improve visual acuity traction may ultimately lead to a retinal
May cause worsening macular edema, and loss of detachment. A traction retinal detachment
peripheral vision and night vision typically has a concave, immobile appearance
Indications for supplementation are uncertain with retinal striae radiating from the areas
Does not always cause regression ofNVD /NVE of greatest traction. When traction retinal
Is also indicated in patients with NVI from PDR detachment affects the macula, severe visual
even in the absence ofNVD/NVE loss is noted.
NVD, neovascularization ofthe disc; NYE, neovascularization • Combined traction and rhegmatogenous
elsewhere; NV!, neovascularization ofthe iris; PDR, retinal detachment may develop if vitreous
proliferative diabetic retinopathy. traction is severe enough to produce a full-
thickness retinal break. Combined retinal
established by the DRS is the treatment of detachments tend to develop more rapidly
choice (Figs. 3-28 to 3-30). than purely tractional retinal detachments.
• For eyes with more advanced nonclearing 1he retina appears more mobile with cor-
vitreous hemorrhage or fi.brovascular scar- rugations and undulations noted with eye
ring, or both, vitrectomy may be indicated. movement.
Intravitreal injection of anti-VEGF agents will Indications for Vitrectomy in Proliferative
induce rapid regression of neovascularization. Diabetic Retinopathy
1his approach may be utilized as primary • Definite
treatment, in conjunction with laser photo-
Persistent or recurrent vitreous hemor-
coagulation or as a pre-operative adjunct to
rhage (see Figs. 3-25 and 3-26)
anticipated vitrectomy surgery.
Traction macular detachment (Figs. 3-32
Macular Ischemia
and3-33)
• 1here is no effective treatment for diabetic
Combined traction and rhegmatog-
macular ischemia. 1his condition more com-
enous retinal detachment (Fig. 3-34)
monly occurs in eyes with PDR but may be
observed in association with nonproliferative • Possible
disease as well. Irregular enlargement of the Severe proliferation unresponsive to
foveal avascular zone on fluorescein angiogra- PRP (Fig. 3-35)
phy is observed (Fig. 3-31). Traction detachment threatening the
Retinal Detachment macula
• 1he development of neovascular tis- Persistent macular edema with taut pos-
sue produces an unusually strong adhesion terior hyaloid face
FIGURE 3-17. NeOVUGularization of the ditc (NVD). Moderately severe NVD u defined in the Diabetic
R.etinopathy Study;. (Standard Photo lOA, courtesy of the Diabetic R.etinopathy Study Gtoup.)
PlGUU 3-18. Severe elevated NVD.

Proliferalive Diabetic Retinopathy 11 S
FIGURB 3·19. A. Proliferative diabetic retinopathy (PDR) with mac:ular edema, HYE, and NVD. B. IVFA
confuming NVD and enlarged irregular foveal avascular zone.
( contlniud)
FIG'URB 3-19. (Continued) C. Late phase showing marked leakage from NVD and Hftre mKUlar edema.
PIGURB 3-20. A. Patches of neovuc:ularization elsewhere (NVB). Note the bland appearance of the fundus
peripheral to the NVB.
(continued)
Prolifermve Diabetic Retinopathy 11 7
PIGUBB 3-2.0. (Continued) B. MaaJlar view on IVFA demonstrates micromeurysma but minimal ilc:hemia.
C. Hypedluoreace:nce of the NVB.
(continued)
PIGURB 3-20. (Continued) D. Note the marked capmary nonperfuaion peripheral to the NVB.
FIGURB 3-21. A. PDR with NVD and NVB (arrows).

(conttnr.ud)
Prolifermve Diabetic Retinopathy 119
PIGUllB 3-21. (Continued) B. IVFA ab.owing hyperfiuorescence ofNVD and NVB. Note the irregular capillary
bed .in the central JDaCUla (inlet). C. Marked byper.fluoraceru:e ofNVB with peripheral nonperfusion.
(ccmtinrud)
FIGURB 3-21. (Continued) D. Muled late hyperlluorescence from leaking NVD and NVB with maculu
edema.
FIGURB 3-ll. Neovucularization of the iris in PDR seen through a goniou:opi<: mirror.
FIGlJRE 3-23. Mild vitreous hemorrhage in PDR.
FIGUllB 3-24. Large preret:inal hemorrhage in PDR resulting in a large, deme acotoma.
FIGUllB 3-25. Boat-shaped preretinal hemorrhage in PDR.
FIGUllE 3-26. More dense vitreowi hemorrhage.

FIG'UllB 3-27. A. Barly-phue IVPA showing enlargement offoveal avucular zone in diabetic retinopathy.
Note the hyperfluoreacent dot inferior to the fovea ( atTOW). B. HyperfluoreKeDce and linear horizontal
hyp~uoracence develop suddenly during the IVFA u spontaneous preretinal hemorrhage begim to occur
from a tiny area of NVB.
(continued)
FIGUlll! 3·27. (Continued) C. The area of hyper- and hypoft.uoresc:ence enlarges u hemorrhage expands during
the IVFA. D. Red~f.ree photograph showing fresh preretinal hemorrhage. Photo was taken ahortly after ( C).
Prolifermve Diabetic Retinopathy 12 S
FIGUJLE 3-21. Luer photocoagulatton scars spaced about one bum width apart in panretinal photocoagulation
(PRP).
FIGUllB 3-29. PRP scan in PDR. Note sparing of the m.acula.

FIGtJRB 3-30- Bquator-plua photo after full PRP.

FIGUllB 3-31. A. Polt&rlor pole after PRP. 'Ihe patient bad no appreciable macular thickening but vision was
reduced to 20/80. B. IVFA showing enlarged, irregular foveal avasailar UJne (inset) identifying isdiemia as the
mechanism of vision lou.
PIGUJlB 3-32. A. Traction retinal detachment involving the maaila. B. Postoperative appearance after
vit:rectomy, membrane peeling, and PRP.
FIGVllB 3-33. A. Muked traction on the macula in a patient found to have a full..thid:ne11 retinal break u well
during vitrectomy. B. Postoperative appearance shows the retina to be attached, PRP and a residual vitreom
cavity gas bubble (arrow) slowly resolving.
FIGUllB 3-34. Wide angle photograph showing combined traction and rhegmatogenom retinal diseue in PDR.
Note the full-thickne11 retinal hole nasally and adjacent white fibmvucular traction.
PIGUJlB 3-35. A. Preoperative appearance of highly elevated and ~d NVD. B. Two days after
intravitreal injection of bevacfaumab the NVD Ioob white and ti.11ue manipulation during vitrec:tomy is greatly
fu::ilitated.
DIABETIC PAPILLOPATHY DIFFERENTIAL DIAGNOSIS
• Optic disc neovascularization from PDR

iabetic papillopathy describes optic disc
D edema, either unilateral or bilateral, in a
diabetic patient with evidence for minimal or
• AION
• Optic neuritis
mild optic nerve dysfunction and no evidence • Optic disc drusen
for ocular inflammation or elevated intracra-
• Papilledema
nial pressure.
EPIDEMIOLOGY DIAGNOSTIC EVALUATION

AND ETIOLOGY
• In general, no workup is needed in the
• Roughly 7096 of patients have type 1 appropriate clinical setting. Ifthe case is
diabetes, and 60% of cases are unilateral. atypical, then imaging such as a magnetic
resonance scan is indicated.
• Etiology is uncertain, although some
suggest a mild nonarteritic anterior ischemic • Visual field examination may be useful to
opticneuropathy (AION). document and follow visual loss.
• Fluorescein angiography can distinguish
HISTORY diabetic papillopathy from NVD but is
rarely needed. Diabetic papillopathy typi-
• Patients may have blurry vision or be cally stains without signllicant leakage on
asymptomatic. 8.uorescein angiography whereas NVD
• Rarely there will be transient visual shows leakage ofdye into the vitreous
obscuration. cavity.
• Neurologic symptoms are absent.

PROGNOSIS AND
CLINICAL SIGNS
• No treatment is indicated. Substantial
• Disc swelling occurs with prominent sur- spontaneous recovery occurs, usually over
face vessels and fine hemorrhages on the disc. weeks to months, with many patients show-
ing subtle optic atrophy or visual field defects
• An afferent papillary defect is present but
permanently.
generally not severe.
• Patients should be monitored to rule out
• Visual loss is often mild with 20/ 40 or bet-
rapid progression to PDR, which occurs in a
ter in 75% of cases.
minority ofcases.
ASSOCIATED
CLINICAL SIGNS
• A crowded optic disc is often present,

similar to AION. This does not correlate with
the degree of diabetic retinopathy.
CHAPTER
4
Retinal Vascular Disease
Gary C. Brown •
C OTTON~WOOL SPOTS the sudden appearance ofcorresponding

blind spots.
otton-wool spots describe the retinal
C flow
change resulting from acute blockage of
blood within a terminal retinal arteriole.
• Pupillary changes: An afferent pupillary
defect is usually absent.
• Fwidus changes: Cotton-wool spots
appear in the posterior pole ofthe fundus
EPIDEMIOLOGY (not the peripheral retina) as super.6.cial areas
AND ETIOLOGY ofretinal opadfication that characteristically
measure less than one quarter disc area in size
• The prevalence is uncertain. Cotton-wool (Fig. 4-1). When associated with diabetes
spots are seen in over 4096 of cases of diabetic mellitus, systemic arterial hypertension, and
retinopathy and also with acute systemic retinal venous obstruction, they are generally
arterial hypertension. seen concomitantly with. retinal hemorrhages.
• No hereditary pattern is known. Cotton-wool spots usually resolve over 5 to
7 weeks but may remain longer when present
PATHOPHYSIOLOG Y in conjunction with diabetic retinopathy.
• Embolic
• Hypertensive arteriolar necrosis • Inflammatory retinitis may occur
• Inflammatory from entities such as toxoplasmosis or
• See Diagnostic Evaluation below cytomegalovims.
• Retinal hemorrhages are typically present
CLINICAL SIGNS with the latter.
• '!here are also usually vitreous cells pres-
• Visual acuity: Central visual acuity is usu- ent with inflammatory conditions, but not
ally unaffected, although patients may note with cotton-wool spots alone.
133
134 4 RETINAL VASCULAR DISEASE
DIAGNOSTIC EVALUATION Miscellaneous: Migraine, Lyme disease,

hypotension, acquired immunodeficiency
• Intravenous fluorescein angiography is syndrome (AIDS), interferon therapy, met-
minimally helpful. It reveals areas of rela- astatic carcinoma, intravenous drug abuse
tive hypofluorescence corresponding to the (chronic), papilledema, acute pancreatitis,
cotton-wool spots. severe anemia, radiation retinopathy, lepto-
• Systemic workup (similar to that of acute spirosis, Purtscher's retinopathy.
central retinal artery obstruction, unless
the obvious causes of diabetic retinopathy, PROGNOSIS AND
systemic arterial hypertension, and retinal MANAGEMENT
venous obstruction are present):
Diabetic retinopathy: Cotton-wool • The visual prognosis for central vision is
spots are present in 4496 of cases. good unless there are innumerable cotton-
Systemic arterial hypertension: Diastolic wool spots as with entities such as systemic
blood pressure of 105 to 110 mm Hg or lupus erythematosus, pancreatitis, Purtscher's
more is usually necessary to induce cotton- retinopathy, or intravenous drug abuse.
wool spot formation in adults. Associated damage from entities that cotton-
wool spots accompany (e.g., diabetic retinop-
Retinal vein obstruction: Central, branch.
athy or retinal venous obstruction) can lead
Embolic: Carotid and cardiac. to severe visual loss.
Inflammatory: Giant cell arteritis, • There is no consistently proven treat-
Wegener's granulomatosis, polyarteritis ment to ameliorate the visual acuity. When
nodosa, systemic lupus erythematosus, known diabetic retinopathy and retinal vein
scleroderma, orbital mucormycosis, toxo- obstruction are excluded as causes, a serious
plasmosis retinitis. associated systemic disease can be found in
Coagulopathies: Sickle cell disease, 95% of cases. Thus, it is critical to undertake
homocysteinuria, lupus anticoagulant a systemic workup if there is no appreciable
syndrome, protein S deficiency, protein C underlying cause, even if only one cotton-
deficiency, antithrombin III deficiency, and wool spot is present.
the factor V Leiden mutation.
Cotton-Wool Spots 13 S
PIGURB 4-1. Cotton-wool spots. Multiple cotton-wool spots (inlet) in the fundUI of a patient with human
immunodefi.c:ieDcy'rirus (HIV) infection.
retinopathy. Arteriovenous nicldng of a retinal

HYPERTENSIVE vein does not occur at an arteriovenous cross-
RETINOPATHY ing unless the retinal artery is located anterior
to the retinal vein, a phenomenon which
"'l.Jypertensive retinopathy refers to the occurs in approximately two-thirds ofthe arte-
.£:I.retinal vascular changes associated with riovenow crossings in the posterior pole.
systemic arterial hypertension. Hypertensive
• Grade 3: 'The systemic diastolic blood
choroidopathy may also accompany the acute
pressure in an adult with grade 3 hyperten-
phases of hypertensive retinopathy. Blood
sive retinopathy is typically at least 105 to
pressure can vary throughout the day, as
110 mm Hg. At this point, the retinal arteries
can coverage with hypertensive medications.
lose their ability to autoregulate the blood
Thus, having a patient measure blood pres-
.flow, and the high pressure is passed distally
sure at home three times a day for 3 to 4 days
to the retinal arterioles and capillary bed. 'This
gives the clinician and the patient greater con-
same clinical signs can be seen in children
fidence that the blood pressure is either stable
when the systolic blood is in the nineties.
or not.
• Grade 4: 'The systemic diastolic blood
pressure in an adult with grade 4 hypertensive
EPIDEMIOLOGY retinopathy is usually at least 130 to 140 mm
Hg. With both grades 3 and 4 hypertensive
• Hypertensive retinopathy can be divided retinopathy, the increased blood pressure can
into chronic and acute phases. Tue most damage the blood vessel wall, leading to fibri-
commonly used classification is the K.eith- noid necrosis (the presence offibrin thrombi
Wagener-Barker classification. The grades of within the vascular lumina). A similar process
hypertensive retinopathy are as follows: occurs with hypertensive choroidopathy,
Grade 1: Retinal arterial narrowing leading to necrosis ofthe overlying retinal
(Fig.+l) pigment epithelium (Elschnig spot).
• Grade 2: Retinal arteriovenous nicking
(Fig.+3) CLINICAL SIGNS
• Grade 3: Retinal hemorrhages, cotton-
• Grade 1 and 2 changes are chronic,
wool spots, hard exudates (Fig. 4-4)
whereas grade 3 and 4 changes indicate acute
Grade 4: Grade 3 changes plus optic retinal vascular decompensation.
disc swelling (Fig. +s)
• Hypertensive choroidopathy (Elschnig
• Grades 1 and 2 are commonly seen in spots) may accompany grade 3 and 4 changes.
practice. Grade 3 and 4 changes are much less Elschnig spots are round and yellow acutely,
frequently seen. eventually changing to pigmented lesions.
PATHOPHYSIOLOGY DIFFERENTIAL DIAGNOSIS
• Grada 1 and l: Hyalinization and thicken- • Diabetic retinopathy, radiation retinopathy,

ing ofthe retinal arterial walls is seen, leading venous occlusive disease, carotid artery occlu-
to the straightened vessels in grade 1 and the sive disease (ocular ischemic syndrome), and
indentation (arteriovenous nicking) ofthe reti- collagen vascular diseases can all mimic the
nal veins by the arteries in grade 2 hypertensive changesofhypertensiveretinopathy.
Hypertensive Retinopathy 137
DIAGNOSTIC EVALUATION resolution of the fundus abnormalities over a

period ofweeks to months in eyes with grade
• Measurement of the systemic blood 3 and 4 changes, but often does not affect the
pressure is critical when the diagnosis is sus- changes seen with grades 1 and 2 hyperten-
pected. Ifthe acute changes (grades 3 and sive retinopathy.
4) are classic and the blood pressure is not • Laser therapy has not been shown to be of
elevated at the time of measurement, consid- benefit in treating the visual loss associated
eration should be given to the possibility that with grade 3 and 4 hypertensive retinopathy.
the blood pressure has been uncontrolled Correcting the blood pressure after grade
recently or is uncontrolled at other times dur- 4 retinopathy can lead to visual improvement,
ing the day. although there may be residual, permanent
visual loss due to vascular shutdown in
hypertensive choroidopathy, hypertensive
PROGNOSIS AND retinopathy, hypertensive optic neuropathy.
MANAGEMENT Oral nifedipine has been suggested for the
treatment of acute grade 4 hypertensive
• Vision is typically unaffected with grades retinopathy.
1 and 2 hypertensive retinopathy and may be
• Theoretically, intravitreal VEGF-A inhibi-
mildly decreased with grade 3 retinopathy.
tor therapy with ranibizumab and/ or beva-
• With grade 4 retinopathy, vision can be cizumab could stabilize the walls of retinal
markedly decreased due to retinal edema, ofvessels with grade 3 or 4 systemic arterial
hard exudates in the central macula (macular hypertension changes. As of this writing, data
star) and/or the presence of a serous retinal on the treatment of hypertensive retinopathy
detachment. with these interventions are lacking.
• The treatment for hypertensive retinopa- • Ifthe blood pressure associated with grade
thy is to correct the underlying condition by 4 hypertensive retinopathy is untreated, the
normalizing the blood pressure. This causes 18-month mortality rate is 94%.
FIGUllB +2. Hypertmum ntinopathy, grade 1. 'Ihe retinal arteries are markedly narrowed and straightened.
Small retinal hemorrhages are present, not due to hypertemion but due to background diabetic: retinopat:hy.
FIGURE 4-3. Hypertemtve m:la.o~ grade 2. Prominent arteriovenou. Dicking (ammos) ia seen. Small
retinal hemorrhages are present, not due to hypertension, but due to diabetic retinopathy.
Hypertensive Retinopathy- 13 9
FIGURB 4-4. Hypm:llliUlm ntinopatby, grade 4. Cotton-wool apott, retinal hemorrhages, a.macular star
c:omposed of intraretinal lipid audatu, and a serous detadiment of th.e maad.a are all present. The optic nerve
head is swollen, the feature that 1eparate1 grade 3 and grade 4 hypertemive retinopathy.
PIGURB 4-5. Hypertemlve ntlnopathy, gncle 4. A. Retinal hemorrhap are present, the optic disc is
swollen, and an emdative retinal detachment (arrow.s) is present Inferiorly. Yellow .Rlachnig apotl (asterisk) are
present in the macula. B. Fluorescein angiogram corresponding to A. Profound retinal capillary nonperfusion
is present in the macula (macular ischemia), and foci ofhypertluorescence c.orreaponding to the .Rlachnig spots
(asterisk.) are also seen in the m.acula.
(continued)
Hypertensive Retinopathy- 141
PIGURB 4-S. (Continued) Hypertemm ntlllopathy, grade 4. C. Fluoreacein angiogram of the mperlor
fun.du. of the eye shown in A. Numennu foci ofhyperflnoreacence coaeaponding to .Ehchnig spots (asterisk)
can be seen.
• Fundus changes: Three variants occur:

CILIORETINAL ARTERY
Cllioretinal artery obstruction alone
OBSTRUCTION (Fig. 4-6) : Superficial retinal whitening,
( OCCLUSION) usually located within the papillomacu-
lar bundle, but which may take hours to
llioretinal artery obstruction is the acute
C blockage of blood flow within a cilioreti-
nal artery.
develop
Cilioretinal artery obstruction associ-
ated with central retinal vein obstruction
Cllioretinal artery obstruction associ-
EPIDEMIOLOGY ated with acute anterior ischemic optic
AND ETIOLOGY neuropathy (Fig. 4-7): Must be particularly
concerned about underlying giant cell
• Cllioretinal artery obstruction typically arteritis
occurs in patients aged 65 years and older but • Retinal intra-arterial emboli: Prevalence is
can be seen at any age. uncertain.
• It is seen in approximately 1:100,000 out- Cholesterol (Hollenhorst plaque named
patient ophthalmology visits. after Robert Hollenhorst at the Mayo
• Tue abnormality is unilateral in over 99% Clinic): Glistening yellow and typically
of cases. No hereditary pattern is known. arises from the carotid arteries. The most
likely scenario follows:
PATHOPHYSIOLOGY 1. Atherosclerosis causes turbulent flow.
2. Turbulence causes damage to the
• .Bmbolic carotid endothelium.
• Hypertensive arterial necrosis 3. Plaque is dislodged from the underly-
• Inflammatory (e.g., giant cell arteritis) ing, exposed carotid atherosclerosis.
The plaque travels to lodge in the
• Hemorrhage under an atherosclerotic
central retinal artery or branch retinal
plaque
artery.
• Associated with central retinal vein
4. A fibrin- platelet thrombus may or
obstruction
may not be the nidus for the develop-
ment of a platelet- thrombin. Thus,
CLINICAL SIGNS a larger embolus may cause a more
severe occlusion.
• Visual acuity: Generally, there is a his-
5. Eventually, the endothelium repairs
tory of acute, unilateral, painless visual
the damage and the plaque is not
field loss occurring over several seconds.
exposed to blood.
Approximately 1096 ofthose affected have
a history oftransient visual loss (amaurosis 6. Turbulence
fugax) in the affected eye prior to the central Calci.6.c: Larg~ white plaque generally
retinal arterial obstruction. originating from the cardiac valves
• Pupillary changes: An afferent pupillary Fibrin- platelet: Longer and dull white;
defect may present immediately, depending may originate from the carotids or cardiac
on the area of distribution of the obstruction. valves
CilioretinalArteryObstruction (Occlusion) 143
DIFFERENTIAL DIAGNOSIS syndrome, protein S deficiency, protein C

deficiency, antithrombin III deficiency
• Inflammatory retinitis from entities such Miscellaneous: Fibromuscular hyper-
as toxoplasmosis or cytomegalovirus. Retinal plasia, Sydenham's chorea, Fabry's disease,
hemorrhages are typically present with the migraine, Lyme disease, hypotension
latter.
• There are also usually vitreous cells pres- PROGNOSIS AND
ent with inflammatory conditions but not MANAGEMENT
with acute cilioretinal artery obstruction.
• With isolated cilioretinal artery obstruc-
DIAGNOSTIC EVALUATION tion, 90% of eyes return to 20 I 40 vision or
better. With central retinal vein occlusion,
• Intravenous fluorescein angiography: 70% of eyes return to 20I 40 vision or better.
Cilioretinal arteries normally fill with fluo- With anterior ischemic optic neuropathy,
rescein dye during the early choroidal filling vision often remains counting fingers to hand
phase of a fluorescein angiogram. A cilioreti- motions.
nal artery obstruction typically shows non- • There is no consistently proven treatment
perfusion of dye in the affected vessel through to ameliorate the visual acuity. Because of the
the retinal arteriovenous phase. relatively good prognosis for central vision,
• Systemic workup: This is similar to that of digital massage and anterior chamber para-
acute central retinal artery obstruction. centesis are not typically undertaken.
Emboli: Carotid and cardiac • Despite the lack of an effective ocular
Inflammatory: Giant cell arteritis, treatment, a systemic workup should be
Wegener's granulomatosis, polyarteritis undertaken. Although giant cell arteritis
nodosa, systemic lupus erythematosus, likely only accounts for 1%to2% of cases,
orbital mucormycosis, toxoplasmosis the possibility should be actively investigated
retinitis because the fellow eye can be involved by
retinal arterial obstruction within hours to
Coagulopathies: Sickle cell disease,
days.
homocystinuria, lupus anticoagulant
PIGUllB +6. Cill.oretbaal artery obatnd:lcm. laolated cilioretinal artery obstrudion. Note the retinal
white:Ding indicating isc:hemic retinal edema (:imet).
PIGUllB 4-7. Cllloretlnal artery obatra.ctlon and ilc:b.emic optic nearopatlrr. Cilioretinal artery occlusion
auociated with anterior iKh.emk optic neuropathy. Note the associated disc edema and pallor.
Branch RetinalAr.ttty Obstruction {Occlusion) 14 S
Cholesterol (Hollenhorst plaque):

BRANCH RETINAL Glistening yellow and typically from the
ARTERY OBSTRUCTION carotid arteries
( OCCLUSION) Calcific: Luge, white plaque generally
originating from the cardiac valves (Fig. 4-9)
ranch retinal artery obstruction is the
B acute blockage of blood flow within a
branch retinal artery.
Fibrin-platelet: Longer and dull white;
may originate from the carotids or cardiac
valves (see Fig. 4-SA)
EPIDEMIOLOGY
AND ETIOLOGY DIFFERENTIAL DIAGNOSIS
• Branch retinal artery obstruction typically • Inflammatory retinitis may occur from
occurs in patients aged 65 years and older but entities such as toxoplasmosis or cytomegalo-
can be seen at any age. virus. Retinal hemorrhages are typically pres-
ent with the latter.
• It is seen in approximately 1: 15,000 to
20,000 outpatient ophthalmology visits. • There are also usually vitreous cells pres-
ent with inflammatory conditions but not
• The abnormality is unilateral in 99% of with acute branch retinal artery obstruction.
cases. No hereditary pattern is known.
PATHOPHYSIOLOGY
• Intravenous tluorescein angiography:
• Embolic Reveals a delay in retinal arterial and venous
• Hypertensive arterial necrosis filling in the area of obstruction versus the
• Inflammatory (e.g., giant cell arteritis) normal remaining fundus (see Fig. 4-8A).
There may be staining of the ischemic retinal
• Hemorrhage under an atherosclerotic plaque vasculature (see Fig. 4-8C).
• Systemic workup: This is similar to that of
CLINICAL SIGNS
acute central retinal artery obstruction.
• Visual acuity: Generally, there is a his- Embolic: Carotid and cardiac
tory of acute, unilateral, painless visual Inflammatory: Giant cell arteritis,
field loss occurring over several seconds. Wegener's granulomatosis, polyarteritis
Approximately 1096 of those affected have nodosa, systemic lupus erythematosus,
a history of transient visual loss (amaurosis orbital mucormycosis, toxoplasmosis
fugu) in the affected eye. retinitis
• Pupillary changes: An afferent pupillary Coagulopathies: Sickle cell disease,
defect may present immediately, depending homocysteinuria, lupus anticoagulant
on the area of distribution ofthe obstruction. syndrome, protein S deficiency, protein C
• Fundus changes: Superficial retinal whit- deficiency, antithrombin m deficiency
ening (Fig. 4-8A) can take hours to develop. Miscellaneous: Fibromuscular hyper-
Retinal intra-arterial emboli (prevalence plasia, Sydenham.'s chorea, Fabry's disease,
uncertain): migraine, Lyme disease, hypotension
PROGNOSIS AND digital massage and anterior chamber para-

MANAGEMENT centesis are not typically undertaken.
• Despite the lad of an effective ocular
• Most patients improve to 20/40 or better treatment, a systemic workup should be
vision without treatment, although a field undertaken.. Although giant cell arteritis
defect corresponding to the area ofobstruc~ likely only accounts for 196 to 296 of cases,
tion usually persists. the possibility should be actively investigated
• 'There is no consistently proven treatment because the fellow eye can be involved within
to ameliorate the visual acuity. Because of the hours to days.
relatively good prognosis for central vision,
PIGURB 4-8. Bruadl retinal artery ob•tnu:tion. A. Retinal whitening (inlet) due to branch retinal artery
obatruction. Note the prozim.al intra-arterial piatelet fibrin thromb111 (arrow).
( c.ontinued)
Branch RetinalAr.ttty Obstruction {Occlusion) 147
PIGUllB ~8. (Continued) Branch retinal artery oNtruc:tion. B. Fluoresc:ein angi.ogram corresponding to
A revea1a retinal arteriolar and capillary nonperfulion in the distribution of the occluded veaeL C. Staining of
the inferotemporal branch retinal artery is present in the area ofocclusion.
FIGUllB 4-9. Bnoc:h retiDal artery obstruction, caldfic plaque. Intra-arterial caldfi.c plaque (arrow)
anociat.ed with branch retinal artery occlution.
Centnl Retinal.Artrry Obstruction (Occlusion) 14 9
• Fundus changes
CENTRAL RETINAL
Superficial retinal whitening: Can take
A RTERY OBSTRUCTION
hours to develop
( O C CLUSION)
• Cherry red spot in the foveola (Fig. 4-10)
entral retinal artery obstruction is the Cilioretinal arterial sparing of central
C acute blockage of blood flow within the
central retinal artery.
fovea (Fig. 4-11): Present in 1096 ofcases
Retinal intra-arterial emboli: Present in
20%ofcases
EPIDEMIOLOGY Cholesterol (Hollenhorst plaque):
Glistening yellow (Fig. 4-12) and typically
AND ETIOLOGY
originates from the carotid arteries
• Central retinal artery obstruction typically • Calcific: Large, white plaque generally
occurs in patients aged 65 years and older but originating from the cardiac valves
can be seen at any age. Fibrin-platelet: Longer and dull white;
• It is seen in apprmimately 1:10,000 outpa- may originate from the carotids or cardiac
tient ophthalmology visits. valves (see Fig. 4-SA)
• The abnonnality is unilateral in 9996 of
cases. DIFFERENTIAL DIAGNOSIS
• No hereditary pattern is known.
• Acute ophthalmic artery obstruction
(cherry red spot absent)
PATHOPHYSIOLO GY
• Tay- Sach's disease (cherry red spot pres-
ent, but in infants less than 1 year ofage and
• Embolic
with severe neurologic dysfunction)
• Hypertensive arterial necrosis
• Dissecting aneurysm within the central DIAGNOSTIC EVALUATION
retinal artery
• Inflammatory {e.g., giant cell arteritis) • Intravenous fluorescein angiography:
• Hemorrhage under an atherosclerotic Reveals delay in retinal arterial and venous
plaque filling (normally, the vein ofthe temporal
• Vasospasm vascular arcade should completely fill within
11 seconds after dye enters the corresponding
retinal arteries.
CLINICAL SIGNS • Electroretinography: Normal a-wave
amplitude, but diminished b-wave amplitude.
• Visual acuity: Generally, there is a history of
acute, unilateral, painless visual loss occurring • Systemic workup
over several seconds. Approximately 1096 of Embolic: Carotid and cardiac
those affected have a history oftransient visual Inflammatory: Giant cell arteritis,
loss (amaurosis fugu) in the affected eye. Wegener's granulomatosis, polyarteritis
• Pupillary changes: An afferent pupillary nodosa, systemic lupus erythematosus,
defect is usually present immediately. orbital mucormycosis
1 SO 4 RETINAL VASCULAR DISEASE
Coagulopathies: Sickle cell disease, massage of the globe and anterior chamber
homocysteinuria, lupus anticoagulant paracentesis has been advocated but has
syndrome, protein S deficiency, protein C minimal benefit. Treatment with fibrinolytic
deficiency, antithrombin III deficiency agents is still considered investigational.
Miscellaneous: Fibromuscular hyper- • Despite the lack of a consistently effective
plasia, Sydenham's chorea, Fabry's disease, ocular treatment, a systemic workup should
migraine, Lyme disease, hypotension be undertaken. .Although giant cell arteritis
Vasospastic: Migraine likely only accounts for I% to 2% of cases,
the possibility should be actively investigated
because the fellow eye can be involved within
PROGNOSIS AND hours to days. In regard to systemic workup, it
MANAGEMENT should be noted that patients with acute cen-
tral artery obstruction have a high death rate
• The visual prognosis is typically poor, from cardiac vascular disease.
with most patients retaining counting finger
• Hiris neovascularization develops, laser
to hand motions vision and a small temporal
panretinal photocoagulation (PRP) should
island of vision remaining. If a cilioretinal
be considered to help prevent neovascular
artery spares the central fovea, 80% of eyes
glaucoma. It causes resolution of the new iris
will return to 20 /20 to 20I 50 vision over a vessels in approximately two-thirds of the
period of2 weeks. Nevertheless, in the latter
treated cases.
instance there is typically severe visual field
loss. Approximately 18% of eyes will progress • Embolectomy has been performed with
to develop iris neovascularization within 4 to the yttrium-aluminium-garnet (YAG) by
6 weeks after the acute obstruction. creating a hole in the artery over the laser,
though the incidence of vitreous hemorrhage
• There is no consistently proven treat-
is high and the results variable.
ment to ameliorate the visual acuity. Digital
Central Retinal.Artery Obstruction {Occlusion) 151
FIGURB 4-10. Acute central retinal artery occ:lmion. Superfidal retinal opadfic:ation ii present, and a cherry
red spot can be seen in the foveola. Note the segm.ented columns of blood in retinal arterioles (bOE:arring).
FIGURB 4-11. Central retinal artery oc:c:lalion with dlloretina1 artery sparing. Acute central retinal artery
occlusion (in.let) with cdioretinal arterial sparing of the f'oveola. Compare with Figure 4-6.
FIGURE 4-U. Hollenhont plaqae. G1imning cholesterol embolu. (Hollenhortt plaque) within a retinal
arteriole ( GTrDW) . 'Ihe1e emboli typically lodge at retinal arteriolar bifurcatioD1.
Acute Ophthalmic Artery Obstruction (Occlusion) 1.S 3
occurring over a period ranging from seconds.

ACUTE OPHTHALMIC 'Ihe visual acuity is no light perception in 9096
ARTERY OBSTRUCTION ofcases.
( OCCLUSION) • Pupillary changes: An afferent pupillary
defect is present.
cute ophthalmic artery obstruction is the
A acute blockage ofthe ophthalmic artery.
• Fundus changes: Superficial retinal whit-
ening in the posterior pole occurs, often more
pronounced th.an with acute central retinal
EPIDEMIOLOGY artery obstruction because the retinal pig-
AND ETIOLOGY ment epithelium may be opacified as well
with acute ophthalmic artery obstruction
• Acute ophthalmic artery obstruction (Fig. 4-13A). 'Ihe presence ofa cherry red
occurs in approximately 1: 100,000 ophthal- spot in the foveola is variable; one-third of
mologic visits. the patients have none, one-third have a mild
cherry red spot, and one-third have a promi-
• The mean age of onset is in the sixties.
nent cherry red spot.
• The presence of retinal arterial emboli is
variable. •satt and pepper~ retinal pigment
PATHOPHYSIOLOGY epithelial changes occur in the posterior pole
and elsewhere within weeks after the acute
• Embolic obstruction. 'Ihe pigment epithelial changes
• Trauma do not occur secondary to central retinal
• Infectious (e.g., mucormycosis ofthe artery obstruction alone.
orbit}
• Inflammatory (e.g., collagen vascular DIFFERENTIAL DIAGNOSIS
disease, giant cell arteritis)
• Refer to Table 4-1.
• Other (see causes of acute central retinal
artery obstruction)
CLINICAL FEATURES
• Intravenous fluorescein angiography
• VlSUal acuity: Generally, there is a his- Delay in choroidal filling: 'Ihe choroid
tory ofacute, unilateral, painless visual loss should be completely filled within
TABLB 4-1. Differential Diagnosis of Acute Ophthalmic Artery Obstruction

Central Retiaal.Artery Ob1trudion Ophthalmic Artery Obstruction
Vl.Si.o n Finger counting-hand motions No light perception
Fundus Retinal opacification with cherry Marked opadfu:alion ±cherry
red spot red spot
Fluorescein angiography Delayed retinal vascular filling Delayed choroidal and retinal
vascular filling
Electroretinography Decreased b-wave Decreased a· and b-waves
1 S4 4 RETINAL VASCULAR DISEASE
5 seconds after the first appearance of fluo- Miscellaneous: Fibromuscular

rescein dye within it (Fig. 4-l 3B). hyperplasia, Sydenham's chorea,
Delayed retinal arterial and venous Fabry's disease, migraine, Lyme disease,
filling. hypotension
Late focal or diffuse staining of the reti- • The most common etiology is as an iatro-
nal pigment epithelium due to choroidal genic sequela of retrobulbar injection.
ischemia.
• Electroretinography: Decreased or PROGNOSIS AND
absent a-wave (outer layer retinal ischemia) MANAGEMENT
and b-wave (inner layer retinal ischemia)
amplitudes. • Although spontaneous reversal can rarely
occur, the long-term vision in most cases is
• Systemic workup: This is similar to that of
usually light perception to no light percep-
acute central retinal artery obstruction.
tion. There is no proven treatment to amelio-
Embolic: Carotid and cardiac rate the visual acuity. Despite the lack of an
Inflammatory: Giant cell arteritis, effective ocular treatment, a systemic workup
Wegener's granulomatosis, polyarteritis should be undertaken.
nodosa, systemic lupus erythematosus, • The patient should be observed regu-
orbital mucormycosis, toxoplasmosis larly for the first several months for the
retinitis. development of iris neovascularization.
Coagulopathies: Sickle cell disease, Laser PRP should be considered if iris neo-
homocysteinuria, lupus anticoagulant vascularization develops (the incidence of
syndrome, protein S deficiency, protein development of iris neovascularization is
C deficiency, antithrombin III deficiency unknown).
Acuw OphthalmicArttty Obstruction (Occlusion) 15 S
PIGURB 4-13. Mate ophtb•lmlc: artery oNtrudton. A. Marked retinal whitening ii present, and a clierry red
spot ii ablent. 'Jhe vUual acuity wu no light perception. B. Fluorescein angiogram corretponding to A. At 116
seconds after injection, there ii no dye within the retinal vessels and the majority of the choroid. Peripapillary
stahUng lil pre1ent, presumably due to collaterala between episcleral vea1el1 and the choroidal drculation.
Retinal hemorrhages
COMBINED CENTRAL
Macular edema
RETINAL ARTERY AND
VEIN OBSTRUCTION
(OCCLUSION)
• InB.ammatory retinitis from
ombined central retinal artery and vein
C obstruction is the acute blockage of both
the central retinal artery and the central retinal
cytomegalovirus
• Central retinal vein obstruction {no cherry
red spot is present)
vein.

AND ETIOLOGY
• Intravenous fluorescein angiography:
• The prevalence is uncertain. Reveals a delay in retinal arterial and
• No hereditary pattern is known. venous filling in the area of obstruction
versus the normal remaining fundus. Severe
retinal capillary nonperfusion is often
PATHOPHYSIOLOG Y
present.
• The disease process is uncertain; blockage • Systemic workup: 1his is similar to that of
of both the central retinal artery and the cen- acute central retinal artery obstruction.
tral retinal vein has been shown in one case. Bmbolic: Carotid and cardiac
Inflammatory: Giant cell arteritis,
CLINICAL SIGNS Wegener's granulomatosis, polyarteritis
nodosa, systemic lupus erythematosus,
• V15Ual acuity: Generally, there is a history orbital mucormycosis, toxoplasmosis
of acute or subacute, unilateral, painless visual retinitis
field loss occurring over a period ranging
• Coagulopathies: Sickle cell disease,
from seconds to days.
homocysteinuria, lupus anticoagulant
• Pupillary changes: An afferent papillary syndrome, protein S deficiency, protein C
defect is typically present. deficiency, antithrombin m deficiency
• Fundus changes (Fig. 4-1-4) Miscellaneous: Fibromuscular hyper-
Superficial retinal whitening in the pos- plasia, Sydenhanis chorea, Fabry's disease,
terior pole migraine, Lyme disease, hypotension
Cherry red spot in the foveola • 1be most common etiology is as a sequela
ofretrobulbar injection.
• Dilated, tortuous retinal veins
Combined Central Retinal.Artery and Vein Obstruction (Occlusion) 15 7
PROGNOSIS AND of an effective ocular treatment, a systemic

MANAGEMENT workup should be undertaken. The patient
should be followed regularly for the first
• Although there are exceptions, the vision several months for the development of iris
most often remains in the counting fingers to neovascularization.
light perception range. Approximately 80% of • Laser PRP should be considered ifiris
eyes will progress to iris neovascularization at neovascularization develops.
a mean time of approximately 6 weeks after • Hthe visual acuity is counting fingers or
the obstruction. worse, PRP can be considered prior to the
• There is no proven treatment to ame- development ofiris neovascularization.
liorate the visual acuity. Despite the lack
FIGURE 4-14. Combined c:entnl retinal artery and. centnl retinal. '9l!in. ocdallam. 'lhe retinal veins are
dilated and tortuou., retinal hemorrhages are present, and a cherry red spot due to 1Uperficial retinal opa.c:ification
cmbe1een.
Periorbital pain: ·ocular angina" is pres-

OCULAR ISCHEMIC ent in about 4096 of cases and is described
SYNDROME as a dull ache.
Prolonged visual recovery time after
cular ischemic syndrome descn"bes ocu-
O lar symptoms and signs attributable to
marked carotid or ophthalmic artery obstruc-
exposure to bright light.
Pupillary changes: An afferent pupillary
tion. .Alternative nomenclatures include venous defect is typically present.
stasis retinopathy, ischemic ocular inflamma- • Anterior segment
tion, and ischemic oculopathy. Iris neovascularization ( 6796)
• Anterior chamber cells (2096)
EPIDEMIOLOGY • Posterior segment
AND ETIOLOGY
• Narrowed retinal arteries in most cases
• Approximately 2000 cases occur in the • Dilated, but not tortuous, retinal veins
United States per year. (Fig. 4-lSA) in most cases
• The entity is unilateral in 8096 of cases and Microaneurysms (see Fig. 4-lSC) in
bilateral in 2096. most cases (posterior pole or peripheral,
or both)
• It occurs in approximately 596 of patients
with carotid artery obstruction and is not usu- Retinal dot and blot hemorrhages ( 80%
ally seen in those under the age ofSO years. of eyes)
• The mean age is 65 years. Neovascularization ofthe optic disc

and/ or retina ( 3596)
Superficial retinal whitening in the pos-
PATHOPHYSIOLOGY terior pole (1296)
Macular edema (see Fig. 4-158) ( 1196)
• Disease involves blockage ofthe carotid • Spontaneous retinal arterial pulsations
or ophthalmic artery, or both. No fl.ow distur- (496)
bance occurs until there is 7096 obstruction.
• Associated systemic abnormalities
With 9096 obstruction, perfusion pressure in
the central retinal artery decreases by 50%. Systemic arterial hypertension ( 65%)
Half of the cases have a 10096 ipsilateral com- Cardiac disease ( 5096)
mon or internal carotid artery obstruction. Diabetes mellitus ( 5096)
Causes include:
Previous stroke ( 2096)
Atherosclerosis (over 9096 of cases)
Severe peripheral vascular disease (2096)
Giant cell arteritis
CLINICAL FEATURES
• Central retinal vein obstruction typically
• Symptoms and signs has tortuous retinal veins, as well as more
V1Sion: Decreases over a period ofweeks retinal hemorrhages and macular edema than
to months, although in 1296 there is acute the ocular ischemlc syndrome. Light digital
visual loss associated with a cherry red spot. pressure on the lid, or minimal pressure with
Ocular Ischemic Syndrome 1 S9
ophthalmodynamometry, will induce retinal • Systemic: There is a 40% 5-year mortality,

arterial pulsations with the ocular ischemic with cardiac disease as the most common
syndrome, whereas substantial pressure is cause of death.
required with central retinal vein occlusion.
Also consider:
MANAGEMENT
Diabetic retinopathy
Radiation retinopathy • Laser PRP is performed if there is iris
neovascularization and the anterior cham-
DIAGNOSTIC EVALUATION ber angle is open. PRP induces regression
of iris new vessels in 3696 of cases. The
• Intravenous fl.uorescein angiography: patient should be evaluated for possible
Delay in choroidal filling (Fig. 4-16) occurs carotid endarterectomy. In surgical candi-
in 60% of cases. Delayed retinal arterial and dates, 33% demonstrate improved vision,
venous filling (see Fig. 4-16) occurs in 95% 33% demonstrate stabilized vision, and
of cases. Late retinal vascular staining, more 33% progress to lose vision despite endar-
pronounced of the retinal arteries (Fig. 4-17), terectomy surgery.
occurs in 85% of cases. • Hthe carotid artery is 100% obstructed,
• Electroretinography: Decreased or absent endarterectomy is not ofbenefit; neither
a-wave (outer layer retinal ischemia) and is extracranial to intracranial (e.g., superfi-
b-wave (inner layer retinal ischemia) ampli- cial temporal to middle cerebral) bypass.
tudes are seen. Remember not to ignore the cardiac status,
• Systemic workup: Carotid noninvasive because cardiac disease is the leading cause
studies have approximately 90% chance of of death.
detecting carotid stenosis of 5096 or more. • Endarterectomy is indicated for symp-
Carotid arteriography or magnetic resonance tomatic patients (those with amaurosis
angiography (MRA) is performed if carotid fugax, transient ischemic attack, or nondis-
noninvasive studies are ambiguous or if abling stroke), and those with 70% to 99%
carotid artery surgery is being considered. ipsilateral carotid stenosis (Table 4-2).
Anti.platelet therapy is indicated for those
PROGNOSIS who are symptomatic and have less than
70% stenosis.
• Ocular: Seventy-five percent of eyes will • Carotid stenting can also be considered
progress to counting fingers of worse vision in select cases.
within 1 year after diagnosis.
TABLE 4-2. Outcomes After Treatment of Symptomatic Patients with High-grade

Carotid Artery Stenosis
Endarterectomy Anti.platelet Agent
Perioperative mortality 2% 1%
Severe stroke by 2 years 9% 26%
Data from the North American Symptomatic Carotid Endarterectomy Trial (NASCET).
FIGUJlB 4-15. Oc:alar IKhemic ..,.adrome. A. 1he retinal veins are slightly dilated, but not tortuous, and
the retinal arteries are narrowed. A few Rtinal hemorrhages are noted in the macula. B. Pluorescein angiogram
corresponding to A. Hyperfluorescen.ce of the optic disc and macular edema are prominent.
(continued)
Ocular Ischemic Syndrome 161
FIGURB 4- 15. (Continued) Oc:alar lachemlc: SJD.dt'ome. C. Fluorescein angiogram in an eye with ocular
ischemic: syndrome demonstrating pinpoint foci of hyper.fluorescence due to microaneurysms in the
midperlpheral fundua.
PlGUllB 4-16. ~ IKhemlc syndrome. Fluoreacein angiogram revealing delayed retinal arterial and
choroidal vascular fiiling in an ocalar ischemic syndrome eye. Note the abnonnal leading edge of:8uorescein dye
in the retinal arteriole (arrow).
FIGtJRB 4-17. Omlar bchemk: syndrome. Late-phue fl.uoracein angiogram demonstrating retinal vuatlar
naining in an oc:War ischemic: syndrome~·
Branch Retinal Vein Obstruction {Ocdusion) 16 3
596 to 1096 of hemispheric retinal vein occlu-

BRANCH RETINAL sions and 196 to 2% of branch retinal vein
VEIN OBSTRUCTION obstructions.
(O CCLUSION) • Posterior segment changes: Retinal venous
engorgement and tortuosity, as well as retinal
ranch retinal vein obstruction is the acute
B blockage of blood flow within a branch
retinal vein.
hemorrhages and edema, are typically present
within the distribution ofthe occluded vessel
(Fig. 4-18A). Macular branch (twig) vein
occlusions may be clinically subtle with mini-
EPIDEMIOLOGY mal hemorrhage, telangiectasia, or macular
AND ETIOLOGY edema.
• Neovascularization of the optic disc or
• Branch retinal vein obstruction typically retina, or both, can develop months to years
occurs in patients aged 65 years and older but after the occlusion. Vitreous traction on reti-
can be seen at any age. The Beaver Dam Eye nal or optic disc neovascularization may lead
Study noted a prevalence of 0.696 and a S-year to vitreous hemorrhage with or without trac-
incidence of0.696 as well. No hereditarypat- tion retinal detachment.
tem is known.
PATHOPHYSIOLOG Y DIFFERENTIAL DIAGNOSIS
• Branch retinal vein occlusion typically • Retinal cavernous hemangioma can occa-
occurs at a retinal arteriovenous crossing. sionally mimic the appearance ofa branch
Impingement ofthe branch retinal artery on retinal vein occlusion.
the branch retinal vein is believed to cause
turbulent flow, leading to endothelial cell
damage and predisposing to thrombus forma-
tion within the branch retinal vein.
• Intravenous £1.uorescein angiography:
• When the branch retinal vein occlusion Reveals a delay in retinal arterial and venous
does not occur at an arteriovenous crossing, filling in the distribution ofthe obstructed
an inflammatory cause, such as from sarcoid- vessel Retinal capillary nonperfusion may be
osis, should be considered. present (Fig. 4-18B).
• Systemic worknp: Includes an evaluation for
CLINICAL SIGNS
systemic arterial hypertension and increased
body mass. A history of glaucoma has also been
• VlSUal acuity: Generally, there is a history
associated with branch retinal vein occlusion.
of unilateral, painless visual loss occurring
over a period ofdays.
• Pupillary changes: An afferent pupillary PROGNOSIS AND
defect may be present, depending on the size MANAGEMENT
ofthe venous occlusion and the degree of
retinal ischemia. 'Uuer Photocoagulation for Macular &lem11
• Anterior segment changes: Iris neovascu- • 1he mean resultant visual acuity in eyes
larization has been observed to develop in with untreated branch retinal vein occlusion
in the Branch Vein Occlusion Study is 20/70. ranibizumab therapy does not leave visual
In eyes that are candidates for grid laser pho- field defects (which tend to enlarge consider-
tocoagulation for macular edema, the mean ably over years) within the macular region.
visual result is 20/40 to 20/50. Ranibizumab should be considered the pri-
• According to the Branch Vein Occlusion mary treatment therapy for the treatment of
Study, laser grid photocoagulation for visual macular edema associated with branch retinal
loss due to macular edema can be considered vein occlusion.
for eyes with branch retinal occlusion that Sector Laser PRP
meet the following criteria: • Hposterior segment neovascularization
Visual acuity of 20/40 to 20/200 develops, sector laser PRP in the distribution
Intact perifoveal capillaries with fluores- of the obstructed branch retinal vein should
cein angiography be considered. 1his therapy reduces the inci-
dence of subsequent vitreous hemorrhage
Resolution of the majority of intrareti-
from approximately 60% to 30%.
nal blood
• Hiris neovascularization develops, sector
Ranibizumab Therapy for Macular Edema, laser PRP should be considered to help pre-
the Primary Treatment vent neovascular glaucoma.
• The BRAVO Clinical Trial demonstrated • The BRAVO study, in which intravitreal
that the mean vision in a cohort of untreated 0.5 mg ranibizumab injections were given
patients with branch retinal vein occlusion monthly for 6 months, patients gained
was approximately 20/70, while the cohort almost three lines of vision, meaning they
treated with intravitreal ranibizumab once a saw twice as well as sham therapy. The near
month for 6 months resulted in a mean visual vision without ranibizumab at 6 months was
acuity of approximately 20/30. Unlike the 20/70 at baseline improving to 20/32 with
case with laser photocoagulation therapy, ranibizumab.
Branch Retinal Vein Obstruction {Occlusion) 16 S
FIGUJlB 4-18. Branch ntlDal fflD occluioa. A. Retinal hemorrhages and cotton-wool spots are present in
the distribution of the occluded vene1 (imet). B. Fluoresc:ein angiogram corresponding to A. Retinal capillary
nonperfuAon ii p~ent in the di1tribution of the occluded vessel. C. Optical coherence tomography in eye with
a branch retinal vein occlusion demonstrating macular edema.
central retinal vein occlusions (F.lg. 4-19)

CENTRAL RETINAL typically are associated with vision of20/ 200
VEIN OBSTRUCTION or better, whereas ischemic central retinal
( OCCLUSION) vein obstructions (Fig. 4-lOA-E) are associ-
ated with vision ofcounting fuigers or worse.
entral retinal vein obstruction is blockage
C
vein.
of blood flow within the central retinal
Approximately 2096 of eyes with
nonischemic central retinal vein occlusion
will eventually progress to the ischemic
variant.
EPIDEMIOLOGY • Pupillary changes: An afferent pupillary
AND ETIOLOGY defect may be present, increasing in severity
as the visual acuity decreases and the degree
• Central retinal vein obstruction typically ofischemia increases.
occurs in patients aged 65 years and older but
• Anterior segment changes: his neovas-
can be seen at any age.
cularization (rubeosis iridis) develops in
• In the Beaver Dam Eye Study, the preva- approximately 20% of cases at a mean time of
lence was 0.196 and the 5-year incidence was 3 to 5 months after the obstruction.
0.2%.
• Posterior segment changes
• Bilaterality eventually occurs in approxi-
Dilated, tortuous retinal veins
mately 1096 of cases, more commonly in
those with underlying systemic abnormalities. Retinal hemorrhages, most pronounced
in the posterior pole
Retinal edema, most pronounced in the
macula
PATHOPHYSIOLOGY
Neovascularization ofthe optic disc
• Intravenous thrombus at or near the or retina, or both, or optic disc collaterals
lamina cribrosa is seen in eyes with central (Fig. 4-20F); may develop months after
retinal vein obstruction studied histopatho- the obstruction
logi.cally. Impingement of the central retinal
artery on the central retinal vein is believed DIFFERENTIAL DIAGNOSIS
to cause turbulence and subsequent endothe-
lial damage, which predisposes to thrombus • Differential diagnosis includes ocular
formation. ischemic syndrome (Table4-3) . Diabetic
• Increased intraocular pressure may also retinopathy can also mimic central retinal
predispose to central retinal vein obstruction vein obstruction, but the former is typically
by theoretically bowing the lamina cribrosa bilateral, has prominent hard emdates (rare
posteriorly, leading to turbulen~ endothelial in central retinal vein obstruction) and many
dam.age, and thrombus formation. more microaneurysms than with central reti·
nal vein obstruction.
CLINICAL SIGNS
• VlSUal acuity: Generally, there is a history
of unilateral, painless visual loss occurring • Intravenous fluorescein angiography
over hours to days or weeks. Nonischemic reveals delay in retinal venous :filling and
Central Retinal Vein Obstruction (Occlusion) 16 7
TABLE 4~3. Differential Diagnosis of Central Retinal Vein Obstruction

Central Retinal Vein Obstruction Ocular Ischemic Syndrome
Vision 20/20-hand motions 20/20-no light perception
Irisneovascularization 2096 67%
Retinal hemorrhages Mild to severe Mild
Retinal venous tortuosity Usually present Absent
Macular edema Mild to severe Mild
Fluorescein angiography
Choroidal filling Normal Delayed
Retinal AV transit Delayed Delayed
Late arterial staining Absent Present
AV, arteriovenous.
intraretinal leakage of dye, most prominent Hypercoagulability states (e.g., lupus

in the macula, as the study progresses. anticoagulant syndrome, protein S defi-
Increasing areas of retinal capillary nonper- ciency, protein C deficiency, antithrombin
fusion can be seen in more ischemic cases. III deficiency, hyperhomocysteinemia)
When the retinal capillary nonperfusion (in
seven fundus photographic fields) exceeds
PROGNOSIS AND
75 disc areas, the incidence of development
of iris neovascularization rises to more than
MANAGEMENT
50%.
• Until the use of intravitreal ranibizumab
• Electroretinography: Normal a-wave injections for the treatment of the macular
amplitude, but diminished b-wave amplitude, edema associated with central retinal vein
occurs as ischemia increases. occlusion, there was no effective intervention.
• Systemic workup The CRUISE Clinical Trial demonstrated that
Systemic arterial hypertension 6-monthly intravitreal injections of 0.5mg
ranibizumab resulted in a visual acuity of
Diabetes mellitus
20/32, while the untreated cohort had a mean
Hyperviscosity syndromes (e.g., poly- visual acuity of20/63.
cythemia vera, Waldenstrom's macroglobu-
• According to the guidelines of the
linemia, plasma cell dyscrasias such as
Central Retinal Vein Occlusion Study, if any
multiple myeloma)
anterior chamber angle neovascularization
Hyperlipidemias or 2 clock hours or more ofiris neovascu-
Inflammatory or infectious (e.g., sar- larization develops, laser PRP should be
coidosis, systemic lupus erythematosus, considered to help prevent neovascular
syphilis) glaucoma.
FIGUJlB 4-19. Nmu.chemic central ntiDal ftin occlv.lioil. Note the retinal hemonhages in all !our quadrants
around the optic disc. The ritual acuity in the eye was WI SO.
Central Retinal Vein Obstruction {Occlusion) 169
FIGUllB 4-20. &chemic central retinal ocdaaioa. A. Retinal hemorrhage, diffuse retinal edema, and
numerous cotton·wool spota are pretent. The visual acuity wu hand motiom. B. Fluorescein angiogram
c:orrespon.ding to A. Areu of marked retinal (;apillary aonperfusion and maadar edema are present. Some
of the areas ofhypofluorescence wrrespond to retinal hemorrhages.
(continued)
PIGURB ~JO. (Continued) bchemk central retinal O«lwion. C. Retinal hemorrhage, retinal venous
tortuoalty, diflille macu1ar edema, and .marbdly narrowed ret:in.a1 arterioln are pruent. D. Fluoreacein
angiogram corre•ponding to C. Delayed retinal venous filling and retinal telangiectuia are noted. There is
marked hypo8.uore1cence from retinal iachemia and bloc:bge from retinal hemorrbageL
(canflnued)
Central Retinal Vein Obstruction {Occlusion) 1 71
FIGUllB 4-20. ( Continutd) Jac:ltemic cent:nl retinal oc:dmion. B. Fluorescein angiogram corresponding to
C. There i• widespread macular i.schemia.. P. Optic: disc collaterals shunting retinal venout blood to the choroidal
circulation may be noted on the optic disc.
Retinal edema may be the present-

ing sign when chronic leakage of plasma
encroaches upon the fovea. In this instance,
lipid emdation is also often present.
irst described in 1973, retinal arterial mac-
F ro aneurysm is characterized by the pres-
ence of vascular dilation or outpouching of a
• In appro:r.imately 4% of cases, a retinal
arterial obstruction distal to the macroaneu-
rysm is seen at the time ofpresentation.
retinal artery or arteriole.
EPIDEMIOLOGY
• The abnormality is relatively unique in
• Retinal arterial macroaneurysms occur
appearance. Aneurysmal abnormalities asso-
as isolated phenomena in two-thirds ofthe
ciated with Coats' disease can occasionally
cases. About one-third ofthe cases are seen in
cause bleeding seen with retinal arterial mac-
conjunction with retinal venous obstructions.
roaneurysms, but with Coats' disease there
• Ten percent of cases are bilateral. are typically multiple aneurysmal arterial or
venous dilations, or both.
PATHOPHYSIOLOGY • The presence ofmultiple, bilateral arte-
rial aneurysmal abnormalities occurring
• The aneurysms are believed to be clinically
principally at arterial bifurcations has been
similar in size (300 µm) to the intracerebral described with the disorder, termed idio-
variant, although no association with intra-
pathic retinal vasculitis, aneurysms, and neu-
cerebral aneurysms has been convincingly roretinitis (IRVAN).
demonstrated.
• They can occur as saccular dilations within DIAGNOSTIC EVALUATION
the vessel or as outpouchings from the vessel
• About three quarters of cases are associ- • Intravenous fluorescein angiography
ated with systemic arterial hypertension. reveals hyper:O.uorescence corresponding to
the macroaneurysm (Fig. 4-218). Vascular
CLINICAL SIGNS telangiectasias surrounding the aneurysmal
abnormality may be present.
• The entity is typically unilateral and iso-
lated. Pulsations ofthe macroaneurysm are PROGNOSIS AND
occasionally seen. 'Ihe two most common MANAGEMENT
variants of presentation are as follows:
Acute hemorrhage may develop in the • The visual prognosis depends on whether
subretinal space, retinal or preretinal region bleeding involves the central macular region.
ifthe macroaneurysms ruptures. A multi- In such instances, vision can be reduced
level hemorrhage should arouse suspicion to counting fingers or worse. Spontaneous
ofthe presence of a macroaneurysm. A improvement can occur, particularly when
white oryellowspot (the aneurysm) is the blood is located superficially within the
often present centrally within the hemor- retina. Involvement ofthe macula by edema
rhage (Fig. 4-21). Recurrent bleeding is can lead to visual loss, typically ranging from
extremely unusual. 20/25 to 20/200.
Retinal Arterial Macroaneurysm 17 3
• The bleeding associated with macroaneu- the aneurysm and the retina surrounding the
rysms is not typically treated. It is usually a abnormality.
one-time event, and visual improvement can In approrimately 16% of cases, treat-
occur when the hemorrhage is located primar- ment leads to a retinal arterial obstruction
ily within the superficial layers of the retina. distal to the aneurysm. Thus, treatment of
• Although there are no randomized clini- aneurysms that could lead to an arterial
cal studies addressing the issue, most retinal obstruction involving the central macula
experts recommend treating the macroan- should be undertaken with caution.
eurysms when there is involvement of the In a cross-sectional study, 4% of eyes
central fovea by retinal edema or hard exuda- presented with a branch retinal artery
tion, or both. Treatment is given using 200- to occlusion distal to the macroaneurysm.
500-µm spot size, light argon laser burns to
FIGUJlB 4-21. lletlnal arterial macroanem-yam UIOciated wilb. ye1lo1red blood. A. 'Ihe blood superiorly
is superficial to the retinal vessels (preretinal), whereas inferiorly it is located in the subretinal space. 'Ihe
yellow macroaneurymn ( armw) is present along the course of the retinal artery. B. Fluo.re1cein angiogram
correapondiug to A. 'Ihe aneurysm is hyperftuorescent and located along the i.Dferotemporal retinal artery.
Pm.foveal Telangiectasis l 7S
and highlighted with red-free photography.

PARAFOVEAL Retinal pigment epithelial hyperplasia, most
TELANGIECTASIS prominent in the temporal fovea, can be seen
in the later stages, as can right-angle venules
arafoveal (juxtafoveal) telangiectasis is
P a retinal vascular entity characterized by
the presence ofincompetent retinal capillaries
diving into the outer retina. Yellow intra-
retinal crystals in the fovea are also seen in
some cases (Pig. 4-22A). Despite the retinal
in the foveal region of one or both eyes. thickening, the retinal cystoid changes often
seen with diabetic retinopathy or retinal vein
EPIDEMIOLOGY obstruction are not usually present with para-
AND ETIOLOGY foveal telangiectasis.
• In approximately 596 of patients, choroidal
• Group I parafoveal telangiectasis has neovascularization can develop in the region
been associated with an abnormal glucose ofthe telangiectatic retinal vessels.
tolerance in more than 3096 of cases. Group
2 parafoveal telangiectasis has been associ-
ated with an abnormal glucose tolerance test
in more than 6096 of cases. The incidence of
• Diabetic retinopathy
parafoveal telangiectasis is uncertain. There is
no known hereditary pattern. • Radiation retinopathy
• Carotid obstructive disease (ocular isch-
PATHOPHYSIOLOGY emic syndrome)
• Twig retinal vein obstruction
• Histopathology has shown thickening of • Coats' disease
the walls of the retinal capillaries by a deposi-
• Macular edema associated with the
tion of basement membrane. The changes Irvine-Gass syndrome
are similar to those seen with diabetic
retinopathy. • Macular edema associated with uveitis
• The appearance oftemporal foveal
leakage with fiuorescein angiography is
CLINICAL SIGNS very helpful for making the diagnosis of
parafoveal telangiectasis. In contrast to the
• The entity is stratified into three variants:
Irvine-Gass syndrome (macular edema after
Group 1: Unilateral parafoveal cataract surgery) oruveitis associated with
telangiectasis macular edema, the optic disc is not usually
Group 2: Bilateral parafoveal hyper.fluorescent in eyes with parafoveal
telangiectasis telangiectasis.
Group 3: Bilateral occlusive parafoveal
telangiectasis alone or associated with cen- DIAGNOSTIC EVALUATION
tral nervous system occlusive vasculitis
• There is typically a blunted foveal reB.ex • 'Ihe ophthalmoscopic diagnosis is often
with localized retinal thickening most pro- difficult. Intravenous fluorescein angiogra-
nounced in the temporal fovea. A grayish phy is often required to make the diagnosis.
macular reflex may be observed clinically There is characteristic intraretinal leakage of
dye located primarily in the temporal macula can decrease dramatically to legal blindness.
(Fig.+22B). When abrupt loss of vision is present, the
• In the group 3 variant, areas of retinal possibility of an associated choroidal neovas-
capillary dropout can be seen in the foveal cular membrane should be considered.
region. • Laser photocoagulation has not been
shown to be ofbenefit for the treatment of
parafoveal telangiectasis. Laser therapy may
PROGNOSIS AND be of benefit in treating the choroidal neovas-
MANAGEMENT cularization associated with parafoveal telan-
giectasis. Patients should be made aware of
• When patients first present, the visual acu- the strong association between an abnormal
ity is often only mildly decreased to the 20/20 glucose tolerance test and parafoveal telangi-
to 20 /30 range. Over the years, the vision ectasis, especially the group 2 variant.
FIGURE 4-22. Graap 2. p.rafuna1 telangledubi. A. 'lhe temporal foveal retina is thidtened, and crystalline
depolitl are preaent in tlm area u well. 'lhe visual acuity in the eye wu 20/ 100. Inset highlights t:elangiectatic
changes.
(continued)
Pm.foveal Telangiectasis l 77
FIG'CllB 4-22. ( Cmtinued) Group 2 panf'ovul telangiectuia. B. Barly-pbue ftuoreacein angiogram

corresponding tu A. Telangiectatic retinal vucular change• are present surrounding the foveel avucular zone.
C. Late.phase iluoreacein angiogtam corresponding to A. Int:raret:inal leak.age of dye is present in the vicinity of
the telangiectmc changes in the temporal fovea.
epithelial cells that are believed to develop

SICKLE CELL from a salmon patch hemorrhage that has
RBTINOPATHY dissected into the subretinal space or from a
focal choroidal occlusion.
ickle cell retinopathy describes the fun-
S dus changes associated with sickle cell
hemoglo binopathies.
Proliferative Changes
• Five stages have been described.
Stage I: Peripheral retinal arteriolar
occlusions
EPIDEMIOLOGY
Stage II: Peripheral retinal arteriove-
• Approximately 1096 ofthe U.S. population nous anastomoses
have any form ofsickle hemoglobin; 0.496 • Stage III: Peripheral retinal neovascu-
have hemoglobin SS, 0.296 have hemoglobin larization ("sea fans•) (Fig. +24A)
SC, and 0.03% have sickle cell thalassemia Stage IV: Vitreous hemorrhage
(S'Ihal).
Stage V: Rhegmatogenous or traction
• Proliferative sickle retinopathy has been retinal detachment, or both
noted to occur inJamaican individuals with
sickle hemoglobinopathy in the following per-
centages: SS, 3%; SC, 33%; and SThal, 1496. DIFFERENTIAL DIAGNOSIS
• Eales' disease
PATHOPHYSIOLOG Y
• Proliferative diabetic retinopathy
• Sickled red blood cells cause obstruction • Radiation retinopathy
within the retinal vasculature. Multiple hemo- • Retinal vein occlusion
globin variants have been described, along • Sarcoidosis
with their genetic changes. Although SS dis-
ease is associated with more severe systemic
disease, SC disease causes more advanced
ocular disease.
• A history of sickle cell disease may be elic-
ited, and thus a sickle cell prep or hemoglobin
CLINICAL SIGNS electrophoresis should be considered when
characteristic findings are noted.
Nonproliferative Manifatatkml • 'Ihe disease is diagnosed by its clinical
• Salmon patch hemorrhage: An oval- appearance. Intravenous fl.uorescein angiog-
shaped area ofintraretinal or preretin.al blood raphy reveals retinal capillary nonperfusion
believed to occur secondary to an obstructed adjacent and peripheral to areas of peripheral
retinal arteriole, which subsequently ruptures. retinal neovascularization (Fig. +24).
• Iridescent spot: A small retinoschisis cav-
ity within the superficial retina that can occur PROGNOSIS AND
as a salmon patch resolves. It is filled with MANAGEMENT
hemosiderin-laden macrophages.
• Black sunburst lesion (Fig. +23): An • 'Ihe visual prognosis is often relatively
oval or round collection ofretinal pigment good unless the sequelae of proliferative
Sickle Cell Retinopathy- 17 9
sickle disease (vitreous hemorrhage or retinal reduce the incidence of subsequent vitreous
detachment, or both) develop. hemorrhage. Many have advocated treating
• Treatment is not indicated for the the peripheral retina for 360 degrees.
nonproliferative changes of sickling hemo- • Para plana vitrectomy can be of ben-
globinopathies. When peripheral retinal efit for chronic vitreous hemorrhage.
neovascularization is present, full scatter laser Vitrectomy, with or without scleral buckling,
photocoagulation to the retina peripheral to may be ofbenefit for the repair of retinal
the neovascularization has been shown to detachment.
PIGURB 4-23. Sickle cell retlnopatby, •bJaduranbant tNlon.• Small, black 1unbunt lesion (imet) in an eye
with aickle cell minopathy. 'lb.ere i& a sclerotic retinal 'RS&el leading to ischemic peripheral retina inferiorly.
FIGUJlB 4-24. Stage 3 proDfenttn .idde cell reti.nopathy. A. Orange •sea mi.; or areas of peripheral
retinal neovascularization, are present at the juncture of perfused and ischemic; peripheral retina. B. Pluoresc;ein
anglogram c:orresponding to (A) at 29 seconds after injection. 'Ihe aea f.am are hyperB.uoretc:e11t, and retinal
capillary nonperfuaion ia vi1ible adjacent to them on the left side of the photo.
(continued)
Sickle Cell Retinopathy- 181
PIGURB 4-24.. (Continued) Stage 3 piollferatlve lick1e cell ntmopat:Jay. C. Late-phue ftuoracein anglogram.
showing marked leakage of fluoreacein dye into the vitreoua from the retinal sea fan neovascularization.
• The retinal changes (Fig. 4-25) are charac-

RADIATION terized by the presence of cotton-wool spots,
RETINOPATHY retinal hemorrhages, and hard exudation.
Neovascularization of the optic disc or retina,
R adiation retinopathy refers to damage

induced to the retina or optic nerve, or
both, by external beam irradiation (telether-
or both, can develop as well. Optic nerve
changes are characterized by disc edema, at
times in conjunction with peripapillary sub-
apy) or by localized irradiation (brachyther- retinal fluid and lipid audation (Fig. 4-26).
apy). The optic nerve changes are referred to Retinopathy and optic neuropathy can occur
as radiation optic neuropathy. concomitantly or separately.
• The fundus findings with brachytherapy
EPIDEMIOLOGY are similar to those with teletherapy
AND ETIOLOGY ( Fig. 4-27), although hard exudation
tends to be a more prominent feature
• Damage from external beam irradiation with brachytherapy (Fig. 4-28).
often occurs from irradiation to structures
adjacentto the eyes (brain, oropharym:, etc.).
Typically, a minimum dose of 1500 cGy (cen- DIFFERENTIAL DIAGNOSIS
tigray) of external beam irradiation is required
to induce retinopathy. The mean dose is about • Radiation retinopathy can closely mimic
5000 cGy. At a dose of 7000 to 8000 cGy, diabetic retinopathy. There are usually more
8596 ofeyes will develop radiation retinopa- microaneurysms present with diabetic reti-
thy. Fraction sizes of more than 200 per day nopathy than with radiation retinopathy. Key
appear to amplify the chances of radiation to the diagnosis of radiation is the elicitation
damage. For 60Co brachytherapy, a minimum ofa history of radiation to or around the
of20,000 cGy to the tumor base is necessary eyes.
to induce radiation changes, with the average
dose over 30,000 cGy. DIAGNOSTIC EVALUATION
PATHOPHYSIOLOGY • Intravenous fluorescein angiography
reveals retinal capillary dropout, retinal vascu-
• Radiation retinopathy and optic neuropa- lar telangiectases, and late leakage of dye from
thy are caused primarily by damage to the the damaged vessels.
vasculature of the respective structures.
CLINICAL SIGNS PROGNOSIS

AND MANAGEMENT
• Radiation changes usually occur at a mean
time of 12 to 18 months after the termina- • 'Ihe visual prognosis depends on the dose
tion of radiation, with a range from 1 month ofradiation received. The presence of che-
to 7 years. 'Ihe condition can be unilateral or motherapy, systemic arterial hypertension,
bilateral, depending on the fields included in diabetic retinopathy, and other diseases that
the irradiation. can damage the retinal vasculature appear to
be additive to the radiation damage.
• VlSUal acuity is variable, depending on the
degree of damage to the retinal or optic nerve • With brachytherapy for choroidal mela-
vasculature. noma, about two-thirds ofthe eyes have
Radiation Retinopathy 183
20/200 vision or better at 2 to 3 years after treatment of clinically significant macular

treatment. edema in the Early Treatment Diabetic
• Approximately 25% untreated eyes with Retinopathy Study. Laser PRP is indicated
radiation retinopathy from external beam when neovascularization of the iris or poste-
irradiation progress to develop iris neo- rior segment neovascularization develops.
vascularization of the iris and neovascular • 1here is no known effective treatment for
glaucoma. radiation optic neuropathy, but spontaneous
• Macular edema can be treated with focal improvement of vision occurs in about 20%
laser therapy in a fashion similar to the of cases.
PIGUJLB 4-25. Radiation ntlllopathy after teletherapy. A. Cotton-wool spotl and small retinal hemorrhage
are present in the posterior pole. B, Pluorescein angiogram corresponding to A at 15 1econds after injection. The
cotton-wool 1pot1 are hypoftuoresc:ent. Note the radiation-induced capillary telanglectuia at the fowa and below
the inferior retinal 'ftlcular arcade where capillary nonperfusion is noted.
(continued)
Radiation Retinopathy 18 S
PIGURB 4-1S. (Continued) Radlatloa. retbaopathy after telethenpy. C. Fluoracein angiogram corraponding
to A at 37S uconda du injectiona. 'Ihe cotton-wool spots are now more hyperf!uorescent due to leakage of dye
from the retina at their border.
FIGURE 4-26. R.adlation optic nemvpathy after teletherapy. The opfu: di.le ii swollen and surrounded by
perlpapillary lipid emdates and aubretinal fluid.
FIGURE +27. Radlatioa.retinopathyfollowtngbrub.ytheran for a dioro1dal melanoma. Cotton-wool

apot. are present in the peripapillary region.
FIGUllB +28. Radiation retinopatlry mrrounding a dlomidal melanoma tl'Hted with bracltytherapy.
Marked lipid uudation is preaent at the necrotic tumor bue.
I.ipemia Retinalis 187
systems and typically have skip segments

LIPEMIA RBTINALIS where the retinal vasculature is unaffected.
• Llpemia retinalis shows diffuse retinal
L ipemia retinalis refers to salmon-colored
retinal arteries and retinal veins
due to elevated lipids, most commonly
arterial and venous involvement.
hypertriglyceridemia. DIAGNOSTIC EVALUATION
PATHOPHYSIOLO GY • Fundus biomicroscopic eumination

reveals the characteristic retinal appear-
• Elevated serum lipid levels may cause ance described earlier and usually suffices to
retinal vascular obstruction. The lipid abnor- prompt systemic lipid evaluation.
malities are typically heritable lipid metabolic • Fluorescein angiography may be obtained
abnormalities. to evaluate retinal perfusion; areas of retinal
telangiectasia may be observed.
CLINICAL SIGNS • Family members should be evaluated, and
systemic evaluation is indicated because of
• Pale conjunctiva may result from lipemic potential problems such as pancreatitis.
conjunctiva! blood vessels. Fundus exami-
nation reveals salmon-colored retinal arter-
ies and veins without skip areas (Fig. 4-29). PROGNOSIS AND
MANAGEMENT
• The visual prognosis can be good for
• Retinal vascular whitening can be patients who do not develop retinal vascular
observed in prior retinal vascular occlusion occlusive disease.
or in retinal vascu.litis. 'Ih.ese are typically • Treabnent is directed toward decreasing
confined to the retinal arterial or venous the causative lipemic factor.
PIGUllB 4-29. Llpemla ntman.. A. A patient with markedly elevated triglyceride lipid levels who presented
with a branch retinal vein ocduaion and lipemic yellow retinal vessels and miaoaneurysma. B. After treatment
with oral lipid-lowering agenb1 the retinal vuc:ulature UIWDes normal coloring.
CHAPTER
5
Retinal Degenerations
and Dystrophies
MJtkle.sh C. Sharma and Allen C. Ho •
CLINICAL SIGNS
est's disease, also known as vitellif'orm • Five stages are delineated.

B macular dystroph~ is a macular dystro-
phy that is clinically characterized by an egg
1. Previtellifonn stage: Patients are
asymptomatic with no fundus abnor-
yolk-like lesion at the level of the retinal pig- mality, but electrooculography shows a
ment epithelium (RPB), usually located in the reduced light-peak to dark-trough ratio.
posterior pole. The disease progresses through
2. Vitelliform stage: 'This stage is char-
various stages to culminate in macular atrophy
acterized by an egg yolk-like lesion in
or scarring with loss ofcentral vision.
the macular area. It is usually detected
during the first or second decade oflife.
Although usually single and bilaterally
EPIDEMIOLOGY symmetric, multiple egg yolk lesions
AND ETIOLOGY may be observed in the posterior pole.
The egg yolk lesions are located at the
• Symptoms develop in infancy or early level ofthe RPB, are rounded or oval in
childhood. shape with distinct borders, and range
• An excessive amount oflipofuscin-like from one-halfto two disc diameters in
material within the retinal pigment epithelial size. Vision may be normal or slightly
cells, particularly in the fovea, is observed. decreased at this stage (Pig. S-1).
'There appears to be a secondary loss of the 3. Pseudohypopyon stage: By the second
photoreceptor cells. or third decade oflife, lesions break
• It is an autosomal-dominant disease whose through the RPB, and the yellow mate-
gene is mapped to chromosome 1 lq13. rial accumulates inferiorly in the macula
189
190 S RETINAL DEGENERATIONS AND DYSTROPHIES
within the subretinal space to form • Color vision: Mild dyschromatopsia may
pseudohypopyon (Fig. S-2). be noticed.
4. Vitelliruptive stage: 1he egg yolk breaks • Dark adaptometry is normal.
up to produce a scrambled egg appear- • Electroretinography is normal.
ance. Patients usually notice some visual
• Electrooculography: Best's disease is one
impairment at this stage (Fig. S-3 ).
of the few conditions that results in an abnor-
5. End stage: Subretinal :fibrosis, or a vas- mal electrooculogram (EOG) in the setting of
cularized scar with choroidal neovascu- a normal electroretinogram (ERG). During
larization, contributes to the visual loss an EOG, the light-peak: dark-trough ratio
at this stage. (Arden ratio) is typically below 1.5.
• 1he vitelliform degeneration presenting • Fluorescein angiography: In the vitelliform
after childhood is called adult Best's disease. stage, complete blockage ofbackground cho-
In the latter variant, the yellow foveal deposits roidal fluorescence by the lesion is observed.
are symmetric and similar to childhood Best's Areas of hyperfluorescence due to atrophic
disease except that the lesions are smaller and RPE are noticed as the egg yolk lesions show
have a central pigmented spot. 1he most com- disruption.
mon lesion mistaken for Best's disease is a yel-
low premacular hemorrhage (Fig. 5-4).
PROGNOSIS AND
DIAGNOSTIC EVALUATION MANAGEMENT
• Visual acuity: Vision remains good while • In general, the overall prognosis is good as
the egg yolk lesions are intact. Disruption or most patients retain reading level ofvision in
scarring of the lesions may reduce visual acu- at least one eye throughout life.
ity to the level of 20/200. • When severe vision loss does take place
• Visual fields: Central visual fields are in an eye, it occurs slowly and usually begins
normal initially, but a relative scotoma may after the age of 40 years.
develop with time. • No treatment is available for Best's disease.
Best's Disease 1 91
FIGtnlB 5-1. Bat'• cliaeue, TiteDlfurm stage. A. Characteristic egg yolk-like lea.ion in the fovea.
B. Correapoa.ding iiuoretcein angiogram mowing blocked ftu.orescence due to egg yollc letion during transit
phase. (Courtesy of Retina Slide Collection, Wills Eye Hospital, Philadelphia, Pennsylnnia1 compiled by
Dr. Tamara Vrabec and Dr. Gordon Byrnes.)
192 5 RETINAL DEGENERATIONS AND DYSTROPHIES
FIG'UllB 5-2. Bat'• cllaeue, pseadohypopyon stage. A. Collection of yellaw material within the mbretinal
tpaee simulating hypopyon (arrow). B. Blocked fiuoreKence (arrow) due to deposition of yellow material
in&ri.orly and perlfoveal byperfluorescence in the center of the lesion is een in fiuoreacein angiogram
photographs. Courtery of Retina Slide Collection, Wills Eye Hospital, Philadelphia, Pennsylvani~ compiled
by Dr. Tamara Vrabec and Dr. Gordon Byrnes.)
Best's Disease 193
PIGURB 5-3. BNt'• dleeue, ..ttelllntpti'ff •ta&e· A. Irregular areas of retinal pigment epithelial lo11 secondary
to breakup of the egg yolk lesion (arrow). B. lntente perifoveal hyper:fluoracence 1UttOW1ded by multiple areas
of bypertl.uoresunce ii shown in the corresponding fiuoreacein angiogram. (Courtesy of Retina Slide Collection,
Wills .Bye Hospital, Philadelphia, Pennsylvania, compiled by Dr. Tamara Vrabec and Dr. Gordon Byrnes.)
FIGUllE S"'4. PHaclo-Bat'• dl•eue. A. Old prem.acular hemorrhage simulating the egg yolk leaioo of Best's
disease. Note that the retinal VHSels are obscured by the preretinal lesion ( ll1m1W). Slightly irregular borders
of the lesion and presence of neighboring retinal hemorrhages are clua tu the yellow l.eaion being an old
hemorrhage. B. Fluore1cein angiogram demonstrating microaneurysm1 and retinal telangiectuia temporal
to the lesion, conalltent with diabetic retln.opathy and a pre.macular hemorrhage.
Cone Dystrophy 19 S
CONE DYSTROPHY DIFFERENTIAL DIAGNOSIS

• Reduced vision with normal fundus in chil-
one dystrophy is an inherited defect that
C primarily affects the cone photoreceptor
system.
dren: In this category, cone dystrophy should
be differentiated from Stai:gardt's disease.
• •Bull's-eye" maculopathy: The following
causes of "bull's-eyeD maculopathy need to be
EPIDEMIOLOGY considered in the differential diagnosis:
AND ETIOLOGY Stargardes disease
Chloroquine toxicity
• Symptoms begin in early childhood to • Batten's disease
middle adulthood.
• Benign concentric annular macular
• Cone dystrophy is primarily autosomal dystrophy
dominant, although autosomal-recessive and Leber's congenital amaurosis
X-linked forms have also been reported.
HISTORY
• V.18Ual fields: Central scotoma is usually seen.
• The rate of progression and the sever- • Color vision: Reduced.
ity of signs and symptoms are variable. The • Dark adaptometry: The cone component
symptoms consist of progressive visual loss, ofthe dark adaptation curve is abnormal.
hemeralopia (decreased vision in brightly illu-
minated environment), color vision difficul- • Electroretinograpby: The single-flash
ties, and central visual field defects. photopic ERG and the photopic flicker ERG
are low or unrecordable. The scotopic ERG is
• Macular changes typically follow the visual usually normal.
disturbances; therefore, early in the disease
process the fundus may appear entirely • Fluorescein angiography: The retinal pig-
normal. ment epithelial changes in the macular area
may be visible by B.uorescein angiography
before they can be visualized clinically. Early
CLINICAL SIGNS in the disease process, a mottled hyperfluo-
rescence is seen. AB the "bull's-eye• pattern
• There is gradual, typically symmetric ofretinal pigment epithelial loss develops,
loss of visual acuity to the level of20/200. hyperfluorescence surrounding a central area
Occasionally, this may be reduced to the level ofhypofl.uorescence is observed.
of counting fingers to hand motion acuity.
• Fundus changes are variable (Fig. 5-5). PROGNOSIS AND
Early in the disease process, pigmentary MANAGEMENT
stippling with diffuse pigment granularity
in the posterior pole is the most common • 'Ih.e visual loss is gradual and symmetric to
abnormality observed. The classic "bull's-eyen the level of20/200. Howevei; it may occasion-
pattern of retinal pigment epithelial atrophy is ally be severe enough to cause a visual acuity of
a late finding. In advanced cases, a round, dis- counting fingers to hand motion. The visual loss
crete area of central atrophy is seen. Temporal is more severe in early-onset cases.
pallor of the optic disc may be observed. • No treatment is available for cone dystrophy.
196 5 RETINAL DEGENERATIONS AND DYSTROPH IE S
FIGUllE .S-5. Cone cl7atropby. A. Early •bull's-eye"' mac:ulopathy in a patient with cone dystrophy (inset).
Note the temporal optic: disc: atrophy (arrow). B. Corresponding fluores<:ein angiogram showing central
hypotluorescenc:e l\JlTOUl\ded by a ring ofhyperfiuorescenc:e aeen during the tranlit phue (bm:).
(continued)
Cone Dystrophy- 19 7
FIGURB .S-5. (Continued) Cone ct,moplry. C. 1he hyperfluorescence fades away In the later frame indicating
the presence of window defecb: due to retinal pigment epithelial atrophy. D. Advanced cone dystrophy with a
c:luaic "buD'a--eye"' maculopathy. Note the temporal optic disc pallor. (Courteay ofDr.Jo1ephM.aguire and the
Retina Slide Collection, Willi .Bye Hospital, Philadelphia, Penmyl'YllDia, compiled by Dr. Tamara Vrabec and
Dr. Gordon Byrnes.)
macular region. A rim ofretinal pigment

PATTERN DYSTROPHY epithelial atrophy around the pigment figure,
which is more apparent on fluorescein angiog-
attern dystrophy describes a group of
P related conditions that are inherited in
an autosomal-dominant fashion and are clini-
raphy, may also be seen (Figs. S-6 and S-7).
A single, round, vitelliform lesion in
cally characterized by variably shaped yellow the fovea (adult-onset foveomacular vitel-
or gray deposits in the macula. liform dystrophy).
Extensive macular fishnet arrangement
(reticular dystrophy).
EPIDEMIOLOGY
Coarse pigment mottling ofthe macula
AND ETIOLOGY (fundus pulverulentus) (Fig. S-8).
• S)'IIlptoms begin in middle age. • The affected members of a given pedigree

may have different patterns, and the patterns
• The disease has an autosomal-dominant may differ in the eyes of an affected indi-
pattern. Genetic analysis of patients with but- vidual. Even a change from one to another
terfly dystrophy has shown mutation in the pattern over time may be observed.
peripherin/RDS gene, located on the short
arm of chromosome 6. The peripherin gene
product plays an important role in the struc- DIFFERENTIAL DIAGNOSIS
tural integrity of photoreceptor outer seg-
ment discs. However, this mutation does not • Large drusen: Ophthalmoscopically, the
correspond to a particular phenotype. 'That is, yellow pigment figures of pattern dystrophy
other forms ofretinal degeneration have been may be confused with the large drusen of age-
linked to peripherin/RDS gene mutations. related macular degeneration.
HISTORY DIAGNOSTIC EVALUATION
• Most patients are either asymptomatic or • Visual fields: Normal, except for minimally
have minimal visual disturbances. Typically; reduced sensitivity in the macular area.
the diagnosis is made on routine fundus • Color vision, dark adaptometry, electro-
examination of a middle-aged adult. retinography: Normal.
• Electrooculography: Mildly abnormal,
CLINICAL SIGNS which is consistent with the disturbed retinal
pigment epithelial function.
• VISUal acuity: Patients may have normal • Fluorescein angiography: Pigment figures
visual acuity up to the fifth or sixth decade are hypofluorescent throughout the study.
oflife. Reduced vision and metamorphopsia '!he retinal pigment epithelial atrophy around
may be the presenting symptoms. the lesions produces hyperfluorescence.
• Ophthalmoscopically: The following pat-
terns of pigment deposits in the macular area PROGNOSIS
may be observed:
Most commonly, a bilateral, triradiate • The prognosis for retention ofgood cen-
("butterfly") pattern ofyellow or graypig- tral vision in at least one eye throughout life
ment at the level ofthe RPE in the central is excellent.
Pattan Dystrophy 1 99
FIGUllB 5-6. Patt.em dyat:rophy. A and B. Bilateral, multiple, discrete, yellow areu at the lnel of the retinal
pigment epithelium (RPB) in the central macular region (inset).
(continued)
PIGURB 5-6. (Continued) Pattern cl71tivphy. C. 1he laiom are more pronounced in the c:orraponding
fluoracdn angtogram image of the right eye, whett there is patchy hypedluoracen.c:e.
Pattan Dystrophy 20 I
PIGURB 5-7. Pattern d7wtwpby. A. Clusic: triradiate ('"butter:lly'") pattern of pigment deposits at the fovea
(:in.let) surrounded by multiple areas of retinal pigment epithelial atrophy. B. Fluoresc.ein angtogram showing
patchy hypedluoretcence in the arteriovenous phase. 1he hypedluorescent areas corretpond to retinal pigment
epithelial atrophy in the macalar region. (Courtesy of Dr• .Eric Shakin and the Retina Slide Collection, Wills Bye
Hospital, Philadelphia, Pennsylvania, compiled by Dr. Tamara Vrabe<: and Dr. Gordon Byrnes.)
PIGURB 5-8. Pattern d7mopby, fandu paheralentu. Fluorescein angiogram photographs ofboth eyes
showing radiating pattern ofhypoftuorucence due to coarse pigment depolit:I at the level of RPB-reticular
dystrophy. ( Courtety of Dr. William .Annesley, and the Retina Slide Collection, Will.I Bye Hospital, Philadelphia,
Pennsylvania, compiled by Dr. 'fimara Vrabec and Dr. Gordon Byrnes.)
Stargardt'sDisease 2 0 3
the later stage of disease. Loss of the foveal

STARGARDT'S DISEASE reflex may be the only initial clinical finding.
Discrete, yellowish., ..pisciform· flecks located
targardt's disease is a macular dystrophy
S that is characterized by the presence of dis-
creteJyellow, pisciform flecks at the level ofthe
at the level of the RPE are often noticed at
some point in the course of disease. The
fl.eeks may or may not involve the macula
RPE. Curren~ Stargardt's disease and fundus
(Fig. 5-9). Perifoveal retinal pigment epithe-
flavimaculatus are regarded as variants of the lial mottling may become evident with the
same disorder. 1he term.fandusflavimaculatus is progression of disease.
generally applied when the characteristic flecks
are scattered throughout the fundus. When the
• A •bull's-eye" pattern of retinal pigment
flecks are confined to the posterior pole and are epithelial loss may become apparent, par-
associated with macular atrophy, the condition ticularly by fluorescein angiography. The
is described as Stargardt's disease.
macula classically develops a •beaten
bronze• appearance corresponding to atro-
phy ofthe central RPE in the advanced
EPIDEMIOLOGY stage of disease (Pip. 5·10 and S·ll).
Histopathology shows an accumulation of
AND ETIOLOGY
an abnormal lipofuscin-like material in the
RPE (Pig. 5-12).
• The disease usually presents in the first or
second decade oflife.
• Both sexes are affected equally.
• Stargardt's disease is usually autosomal
recessiveJ although dominantly inherited cases • Cone dystrophy: reduced vision and nor-
have been described. 'Ihe gene for autosomal- mal fundus in a child
recessive Stargardt's disease is located on
• •Bull's-eye" maculopathy: chloroquine
chromosome 1. 'Ihis gene codes for an ATP-
toxicity, Batten's disease, benign concentric
binding transport protein (ABCR) that is
annular macular dystrophy
expressed in the rod inner segments, but not
the RPE. A homozygous mutation in the
ABCR gene causes fundus flavimaculatus.
HISTORY
• Visual .fields: Usually a central scotoma
• Children with Stargardt's disease are usu- is noted, but a paracentral scotoma, central
ally brought to the attention of an ophthal- constrictionJ and a ring scotoma may also be
mologist as a result of a gradual impairment seen, especially early in the disease.
ofvision noticed by the parents or after failing • Color vision: Mild dyschromatopsia to red
a school vision screening. and green may be noted.
• Dark adaptometry: Dark adaptation may
CLINICAL SIGNS be delayed.
• Fluorescein angiography: Features that
• Visual acuity is slightly affected in the may help confirm the diagnosis of Stargardt's
beginning but may be severely reduced in disease include dark or silent choroid;
multiple, irregular hyperfluorescent spots that PROGNOSIS AND

do not precisely correspond to the flecks; and MANAGEMENT
a "bull's-eye" window-defect pattern of hyper-
.fluorescence in the macula. • The majority of patients preserve moder-
• Electroretinography: Usually normal but ate visual acuity ( 20/70 to 20 /200), at least
may be reduced with increasing amounts of in one eye.
peripheral flecks and atrophy. • No effective treatment is available for
• Electrooculography: Usually subnormal. Stargardt's disease.
Stargardt's Disease 20 S
FIGUJlB 5-9. Stargardt'• diaeue. A. Multiple, discrete, yellow, •pildform" Seas (in.et shown one Seek)
located at the level of the RPB with corresponding hypedluorescent areu in the ftuoreacein angiogram
photograph are diatributed throughout the posterior pole of the left eye. B. 'Ihe ba.ckground choroid ii dark on
the fluorescein angiogram photograph, and there is transmission hyper.8uorescence usociated with macular
tlecD and retinal pigment epithelial alterations. (Courtesy of Retina Slide Collection, Wills Bye Hospital,
Philadelphia, Peonsylwnia, compiled by Dr. Tamara Vn.bec: and Dr. Gordon Byrnes.)
PIGURB 5-10. Starprdt'• dl•eue. A. Advanced Stargardt's disease with •beaten bronze'" macula.
B. Corresponding B.uorescein angiogram showing a ce.ottal area ofhypofluorucenc.e (retinal pigment epithelial
clumping) surrounded by a ring ofhyperfluoresc:ence (retinal pigment epithelial atrophy). Note the dark or
silent choroid (blocked :fluorescence).
(continued)
FIGURE 5· 10. ( Continiud) Starpnlt'• dl.Hue. C. Stargardt's disease with "'bull's-eye• ma<:Ula. Compare with
Flgare 5-SD. Note the • beaten bronze• appearance of the macula (imet). ( Courtay of Dr. Eric Shakin and the
R.et:i.oa Slide Collection, Willi Bye Hospital, Philadelphia, PennsylYllDia, compiled by Dr. Tamara Vrabec and
Dr. Gordon Bymet.)
FIGUllB 5-11. Starprdt'• cliaeue. A. Severe loss of RPB In a geographic f.uhio.n .In the central macu1ar region
in a patient with advanced Stugardt's disease. 'Ihe visual aaiity was reduced to 20/200. B. Corresponding
fluoresce.In a.nglogram ahowing irregularly distributed areas ofhypotuorescence and hypedluorescence, with a
discrete rim of hyper.8uorescence within the area of geographic pattern of retinal pigment epithelial lou. Dark
choroid is apparent beyond the macula.
FIGURE 5-11.. Starprdt'a dJ.aeue, eledroa mkropb.otograpb. .Blectron microphotograph 1howing enlarged
retinal pigment epithelial cell1 due to intracellular accwnulation oflipofuacln-Ub materi.al. ( Courtay of
Dr. Ralph Eagle, Wills Eye Hospital, Philadelphia, Pennsylvania.)
the diffuse yellow- white reflex of the underly-

ing sdera.
horoideremia is a generalized. hereditary • Female carriers show unique and pathog-
C retinal degeneration that primarily affects
the clwriocapillaris and the RPE-photorecepmr
nomonic fundus features. The generalized
retinal pigment epithelial mottling, espe-
complex. cially in the midperiphery, resembles the
changes seen in males in the early stage of
disease. The fundus changes in female car-
EPIDEMIOLOGY riers remain stationary, and the fluorescein
AND ETIOLOGY angiography reveals an intact choroidal
vasculature.
• Symptoms are usually noted in the first or
second decade oflife. DIFFERENTIAL DIAGNOSIS
• Only males are affected, and females are
carriers. • Retinitis pigmentosa: Unlike retinitis
pigmentosa (RP), in choroideremia a "bone-
• Choroideremia is an X-linked recessive
spicule• pattern of pigmentary change is
disorder.
usually not seen, and the retinal blood vessels
remain relatively nonnal.
HISTORY • Gyrate atrophy: In the final stages, fundus
appearance in choroideremia may resemble
• Patients usually present in the first or sec- gyrate atrophy, but the different mode of
ond decade oflife with a chief complaint of genetic transmission is an important distin-
di.fficulty with night vision. guishing feature.
CLINICAL SIGNS
• Early in the disease process, fundus
appearance in the affected males is a "salt-and- • Visual Fields: 1here is a loss ofperipheral
pepper" retinal pigment epithelial mottling visual field.
at the equator and the posterior pole. Below • Electroretinography: This may be normal
the retinal pigment epithelial mottling, the during the early stage, but by the end of the
underlying choroid may appear clinically nor- first decade the scotopic ERG becomes non-
mal, but fluorescein angiography may show a recordable and the photopic ERG is severely
patchy loss of choroidal vasculature. reduced.
• Later in the disease process, small areas of • Fluorescein angiography: In the early
the RPE drop out in the midperiphery. These stage, despite the clinically normal-appearing
areas of drop-out eventually coalesce and choroid, fluorescein angiography may reveal
progress centrally. The macula is involved last a patchy loss ofchoriocapillari.s. Later in the
(Fig. S-13). In the final stages, the entire fun- disease, an extensive loss ofchoroidal vascula-
dus, with an exception ofthe macula, shows ture is observed (Pip. 5~14 and S~IS).
Choroiderernia 211
PROGNOSIS AND patients usually have severely reduced vision

MANAGEMENT by the age of 35 years.
• Female carriers usually retain normal
• Relatively good central vision is preserved visual function throughout their life.
until late in the disease because the macula is • No treatment is available for
affected late. Although the rate of progression choroideremia.
may vary within a pedigree, the majority of
PIG'UJlB 5·13. Chorolderemla. MWtiple areas of retinal pigment epithelial loss, some of whi.c;:h have coalesced
to form larger pat.cheL Note that the fovea ii spared and the patient had 20/40 vision in this ~· (Courtesy of
Retina Slide Collection, Willi Bye Hospital, Philadelphia, Pennsylvania, compiled by Dr. Tamara Vrabec: and
Dr. Gordon Bymet.)
Choroideremia 213
PIGURB 5-14. Bady choroideremia. Peripapfllary loN of the RPB (A) and subtle pigmentary mottling in
the midperipheral fandm (B) c:an be seen (inset). Similar fand:m findingl c:an be observed in female carriers of
choroideremia. ( Courtety of Retina Slide Collection, Wills .Eye Hospital, Philadelphia, Penuylvania, compiled
by Dr. Tamara Vrabec and Dr. Gordon Byrnes.)
FIGUllB 5-15. Late choro1clerem1a. A. .&temive Lou of c::b.oriocapillaril is evident In the corrapon.ding late-
phue fluorescein angiogram photograph (same patient u in Figan 5-llA). B. Equator-plus red-free fundw
photograph ah.owing multiple patche1 of the retinal pigment epithelial lo11 mending from the posterior pole to
the midperiphery (ume patient u in Pigare 5·13B). (Courtelf of Retina Slide Collec:tion1 Willi Bye Hospital,
Philadelphia, Penmylvania, compiled by Dr. Tamara Vrabec and Dr. Gordon Byrnes.}
Gyrate Atrophy 21 s
normal early in the disease, as time passes

GYRATE ATROPHY blood vessels show a gradual narrowing.
yrate atrophy is a rare choroidal disor- • In the later stages, marked choroidal atro-
G der, which is usually transmitted in an
autosomal-recessive fashion and is caused by
phy from the periphery to the posterior pole
is evident. However, the macula is usually
an absence or near-absence ofthe pyridoxine- spared. Macular involvement may be in the
dependent mitochondrial matrix enzyme form ofmacular edema or related to progres-
ornithine aminotransferase. sion of atrophic changes.
EPIDEMIOLOGY ASSOCIATED CLINICAL SIGNS

AND ETIOLOGY
• Ocular
• Symptoms begin in the first decade oflife. Myopia: Almost invariably present
• The disorder is autosomal recessive. Cataract: Seen in a high proportion of
patients with gyrate atrophy
• Elevated levels ofornithine in the plasma
and urine in patients with gyrate atrophy are • Systemic
caused by an absence or near-absence of the Characteristically thin, sparse, straight
pyridoxine-dependent mitochondrial matrix hair
enzyme omithine aminotransferase. The lat- • Less consistent findings: Abnormal
ter is necessary for the breakdown of excess electroencephalogram, muscle weakness,
omithine in hwnans. abnormal electrocardiogram, and seizures
HISTORY
• The usual presenting symptoms are poor
night vision and constricted visual fields. • Choroideremia: In late stages, fundus
appearance of choroideremia and gyrate
atrophy can be remarkably similar. However,
CLINICAL SIGNS different modes ofgenetic transmission and
the distinctive fundus features in the female
• Early in the disease, a thinning and trans- carriers of choroideremia are important dis-
parency ofthe RPE, beginning in the midpe- tinguishing features.
riphery, is observed. 'Ihe underlying choroid
may appear either normal or sclerotic. The
affected areas are separated from the normal- DIAGNOSTIC EVALUATION
appearing retina by scalloped borders. The
involved areas begin as isolated patches but • Visual fields: Constriction ofthe periph-
later coalesce (Fig. S-16). eral visual fields corresponds to the expansion
ofthe fundus changes.
• Progression ofthe disease is accompanied
by pigment clumping and choroidal atrophy. • Fluorescein angiography: A loss ofchorio-
Eventually the entire choroidal vasculature capillaris is demonstrated in the affected areas.
disappears, exposing the white sclera. The • Electroretinography: Severely diminished
optic disc and the retinal vessels may be or abolished amplitudes.
• Electrooculography: Abnormal. • Pyridoxine (vitamin B6) may help nor-

• Other: Elevated serum ornithine levels and malize the plasma and urinary ornithine
markedly decreased ornithine aminotransferase levels and preserve visual function. On the
activity in cultured fibroblasts or leukocytes. basis of a response to vitamin B6, gyrate
atrophy may have two clinically different
subtypes. Patients responsive to vitamin B6
PROGNOSIS AND
usually have a less severe and more slowly
MANAGEMENT progressive clinical course than patients who
• Patients are usually legally blind by the are not responsive.
fourth to seventh decade of life. However, ear- • A low-protein diet, particularly a low-
lier visual loss may result from cataract. arginine diet, may also be ofbenefit.
Gyrate Atrophy 21 7
FIG'UllB 5-16. Gyate atrophy. A. Bilateral, multiple, geographic patches of retinal pigment epithelial 1011 with
1calloped borden (inset) are present in the posterior pole and the peripapillary area. B. Scattered pigmentary
clumping i1 also 'rillble.
(continued)
PIGURB 5-16. ( Continaud) a,nte atrophy. C and D. Bxtenaive atrophy of the RPE and the choroidal
vuc:ulature b evident in the corresponding 8.uoreacein angiogram photographs. ".Ihe foftll. i1 apared in both
eye1, and the patient'• visual acuitywu 20/40 OD, 20/30 OS. (Courtesy ofRetina Slide Collection, Will.a Eye
Ho.pital, Philadelphia, Pennsylvania, compiled by Dr. Tamara Vrabec and Dr. Gordon Bymu.)
Congenital Stationary Night Blindness 219
CONGENITAL STATIONARY CLINICAL SIGNS

N IGHT BLINDNESS • VlSUal acuity: Usually unaffected.
• Pundus: Examination shows a multitude of
ongenital stationary night blindness
C (CSNB) is a group of disorders that is
characterized by defective night vision, which
yellow- white, tiny dots in the posterior pole
that radiate out toward the periphery. 1he mac-
remains stable throughout life.
ula is almost invariably spared (Fig. S-17).
CLASSIFICATION
• Retinitis punctata albescens: This is a vari-
• CSNB with normal fundus appearance. ant ofRP in which the fundus shows
• CSNB with abnormal fundus appearance: yellow-white dots but has narrowed vessels
This group includes fundus albipunctatus and and a severely reduced ERG that does not
Oguchi's disease. recover with dark adaptation.
• Fleck retina of Kandori: A disorder with
larger patch-like flecks and a less severe
FUNDUSALBIPUNCTATUS impairment of night vision.
undus albipunctatus (FA) is a disorder of
F the visual pigment regeneration process
that is characterized by an abnormally pro-
longed recovery of normal rhodopsin levels • Visual fields: Normal.
following an intense light exposure.
• Dark adaptometry: Both the cone and rod
components ofthe dark adaptation curve are
HISTORY very slow in reaching the final threshold.
• Blectroretinography: It is important to
• The presenting symptom is nonprogres- know that unless given enough time to dark
sive impaired night vision, but given enough adapt, both the a- and b-waves ofthe ERG are
time to adapt in the dark, patients will achieve severely reduced. However, with prolonged
a normal sensitivity. dark adaptation, ERG returns to nonnal.
• Electrooculography: There is a slow recov-
EPIDEMIOLOGY ery ofthe light rise with dark adaptation.
AND ETIOLOGY
PROGNOSIS AND
• 'Ihe proposed defect in patients with FA MANAGEMENT
appears to be an abnormal regeneration rate
ofthe visual photoreceptor pigments. • 'Ihe defective night vision is nonprogres-
• Autosomal recessive. sive, and the vision is usually unaffected.
PIGURB 5-17. Pandm alblpmu:tatm. Multiple tiny yellow-white dots radiating out from the posterior pole
toward the fundu1 periphery.
Congenital Stationary Night Blindness 2 21
OGUCHI'S DISEASE DIAGNOSTIC

EVALUATION
0 guchi's disease is a variant of CSNB
characterized by a nonprogressive night
vision impairment that is thought to be due to • Visual fields: Normal.
a defective phototransduction process. • Dark adaptometry: There is a normal cone
adaptation but a markedly delayed rod adap-
EPIDEMIOLOGY tation that reaches a normal threshold level
AND ETIOLOGY over a prolonged period of time (from 3 to
24hours).
• The visual photoreceptor pigments are • Electroretinography: Normal-amplitude
normal, and the proposed defect is thought to a-wave and reduced or absent b-wave are seen
be impaired phototransduction, giving rise to under photopic and scotopic conditions. It
abnormal ERG findings. is of note that even after the dark-adapted
thresholds have returned to normal, the ERG
CLINICAL SIGNS b-wave may still be absent.
• Electrooculography: Normal light rise.
• The retina has a peculiar silvery metallic
sheen where retinal vessels stand out against
the background fundus appearance. This PROGNOSIS AND
unusual appearance may be seen in the entire MANAGEMENT
retina or may be present only in the posterior
pole or the periphery. • The night vision defect is nonprogressive.
• Mizuo-Nakamura phenomenon: The • There is no treatment available for
retina has a metallic sheen following light Oguchi's disease.
adaptation, which disappears after few hours
in the dark (Fig. 5-18).
FIGURE 5-11. Mlsao-Nabmma phenomenon. Metallic sheen of the retina aftu light exposure (right-hand
photographs) hu disappeared after a few hours of dark adapta.tion (left). (Courtesy of Retina Slide CoDed:lon,
WilJJI .Bye Hospital, Philadelphia, Pennsylvania, compiled by Dr. Tamara Vrabec and Dr. Gordon Byrnes.)
Albinism 2 2 3
deficit is proportional to the degree of fun-

ALBINISM dus hypopigmentation (Fig. S-19).
lbinism is a group of conditions that Nystagmus, light sensitivity, and a high
A involves the melanin system ofthe eye or
skin, or both.
degree ofrefractive errors.
• Iris transillwnination from decreased
pigmentation.
CLASSIFICATION Foveal aplasia or hypoplasia. In the
presence of significant foveal hypoplasia,
• Ophthalmically, two clinical patterns are nystag:mus begins within 2 to 3 months of
noted: life (Fig. 5-20).
• True albinism: Congenitally subnormal • Hypopigmented retina from the periph-
vision and nystagmus are present. ery to the posterior pole.
Albinoidism: There is normal or mini- Abnormal retinogeniculostriate projec-

mally reduced vision and no nystagmus. tions where many temporal nerve fibers
decussate rather than project to the ipsilateral
• However, both clinical patterns share
geniculate body. This phenomenon accounts
many clinical characteristics. True albinism is
for the abnonnal stereopsis in these patients.
divided into the following two types:
• The female carriers of ocular albinism may
Oculocutaneous albinism: Both the eye
reveal partial iris transillumination and fun-
and the skin are affected.
dus hypopigmentation (Fig. S-21 ).
• Ocular albinism: Only the eyes appear
to be affected.
ASSOCIATED CLINICAL SIGNS
EPIDEMIOLOGY • Skin hypopigmentation is seen in
AND ETIOLOGY patients with oculocutaneous albinism.
Two forms of potentially lethal albinisms
• Oculocutaneous albinism results from a are observed:
reduction in the amount of primary melanin
deposited in each melanosome, whereas ocu- • Chediak-Higashi syndrome:
lar albinism is caused by a reduction in the Oculocutaneous albinism is combined
total number ofmelanosomes. with extreme susceptibility to infection
that can often lead to death in childhood
• Genetics or youth.
Oculocutaneous albinism: autosomal
Hennansky-Pudlaksyndrome:
recessive
Oculocutaneous albinism with a platelet
• Ocular albinism: X-linked defect causing easy bruising and bleed-
ing. Most patients with this disorder in the
IMPORTANT CLINICAL SIGNS United States are ofPuerto Rican origin.
• Both ocular and oculocutaneous albinism HISTOLOGY

share the following ocular clinical features:
Reduced visual acuity in the range of • Macromelanosomes in the eye or skin,
20/40 to 20/400. 'Ihe severity of visual or both
• Increased number of decussating fibers at tyrosinase-positive albinos have some

the chiasm degree of pigmentation.
• Hematologic consultation is necessary if
DIAGNOSTIC EVALUATION Ch~diak-Higashi or Hermansky-Pudlak syn-
dromes are suspected (Fig. S-22).
• The typical constellation of symptoms
and signs suggests the diagnosis. Asymmetric PROGNOSIS AND
visually evoked cortical potentials occur due MANAGEMENT
to abnormal decussation ofthe nerve fibers at
thechiasm. • Since all forms ofalbinism are inherited,
• The tyrosinase hair bulb test indicates genetic counseling is important. A majority of
the presence or absence of the tyrosinase children with albinism are able to attend regu-
enzyme (it is required in the biosynthesis lar schools with some degree ofassistance,
of melanin) and divides the oculocutaneous but only a few see well enough to drive.
albinism into two types, tyrosinase-positive • Refraction, tinted glasses, and visual aids
and tyrosinase-negative. Tyrosinase-negative are helpful for older patients.
albinos show a complete lack of pigmenta- • Hematologic consultation in an appropri-
tion in the skin, hair, and eyes, whereas ate setting is mandatory.
FIG'URB 5-19. Alblni11111.. Markedly hypopigmented fimdus. Note the haphazard underlying large choroidal
vaaels. ( Courtay of Retina Slide Collec:t:i.on, Wills .Eye Hospital, Philadelphia, Pennsylvania, compiled by
Albinism 2 2 S
FIGURE 5-20. AlbiDl.ua. foTHI hfpoplula. Color fi.mdus photograph concentrating on the foveal region
of a patient with albiniml. Note a complete absence offoveal architecture and foveal re:fla-foveal hypopla1ia
(box). (Courtesy of lletina Slide Collection, Wills Efe Hospital, Philadelphia, Pennsylnnia, compiled by
FIGUllB 5-21. AlbiDJ.am, female carrier. Partially hypopigm.ented fundus in a female carrier of ocular
albinism. (Courtesy ofRetina Slide Collection, Wills Rye Hospital, Philadelphia, Pennsylvania, compiled by
Albinism 2 2 7
FIGlJRB 5·22. Oc:uloeataneou albinlmn, Hermanllty-Pacllak Syndrome. Purpuric patcha on the cheeks,
forehead, and left upper lid of a young boy with oculocutaneous albiniam and Hermanlky- Pudlak.yndrome.
{Courtesy of!Utina Slide Collection, Wills .Bye Hospital., Philadelphia, Peonsylvmia, amipiled by Dr. 'liman. Vrabec:
and Dr. Gordon Byrnes.)
RETINITIS PIGMBNTOSA CLINICAL SIGNS
• The classic clinical triad of RP includes

P is a group of hereditary disorders asso-
R ciated with a primary abnormality of the
photoreceptor- RPE complex, and is charac-
(Fig. 5-23):
Retinal ·bone-spicule· pigmentation
terized subjectively by night blindness and a Arteriolar attenuation
loss of peripheral vision, and objectively by Waxy optic disc pallor (Fig. S-24)
a grossly reduced or extinguished full-field
• Additionally, vitreous debris is frequently
ERG. However, the hereditary basis can be
encountered.
established in only 5096 ofcases.
Important Clinical Signs
EPIDEMIOLOGY
• Night blindness: The most comm.on pre-
AND ETIOLOGY senting clinical symptom. Peripheral vision
• Onset: Variable and depends on the inher- problems are initially noticed only in the
itance pattern. dim light, but later these problems are noted
under all conditions. Eventually, only a small
• Genetics: 'Ihe following modes of inheri-
zone of central vision remains.
tance have been described:
• Visual acuity: The central vision may be
Sporadic: 'Ihere is no family history
preserved for many years in the autosomal-
of RP. These are the most common cases.
dominant fonn of RP. An early loss of central
Some ofthese cases are autosomal reces-
vision is often observed in the X-linked or
sive, and others may represent autosomal-
autosomal-recessive forms. Additionally,
dominant mutations.
cataract, cystoid macular edema, and surface
Autosomal dominant: 'Ihe next most wrinkling ofthe internal limiting membrane
common mode ofinheritance and has the may contribute to early vision loss.
best prognosis.
• Fundus findings: Fundus findings may
• Autosomal recessive. differ according to the stage of the disease.
• X-linked recessive: Least common • Very early: Arteriolar narrowing; fine
group with worst prognosis. dust-like intraretinal pigmentation.
Later features: Perivascular "bone-
HISTORY
spicule• pigment dumping. Pigmentary
• Patients with typical RP present with a changes begin in the midretinal periphery
history of night blindness or nyctalopia (a and then extend anteriorly as well as poste-
complete or partially reduced rate of visual riorly, giving rise to a ring scotoma. Waxy
adaptation at night or in dim illumination). pallor of the optic disc is the least reliable
Patients may also have difficulty with periph- sign of the RP triad.
eral vision in dim light. Advanced features: Unmasking ofthe
• 'Ihe difficulty with night vision may begin large choroid.al vessels, prominent arte-
in early childhood, or patients may notice riolar attenuation, and marked optic disc
it in the second or third decade oflife. By pallor.
the age of 30 years, over 75% of patients are • Macula: Macular involvement may occur
symptomatic. in the following ways:
Retinitis Pigmentosa 22 9
Cystoid macular edema (may respond electroretinography. The b-wave implicit

to systemic acetazolamide) time on the ERG may be prolonged in
Surface wrinkling patients with predominant loss of rods rather
than cones. Recently, distinctive ERG pat-
Atrophic changes
terns in the type I and the type II autosomal-
Associated Ocular Features dominant forms of RP have been observed.
The rod ERG is more severely affected than
• Optic nerve head drusen
the cone ERG in type I RP, whereas rod and
• Open-angle glaucoma (in 396 ofpatients cone ERGs are equally abnormal in type
withRP) IIRP.
• Posterior subcapsular cataract (common • Electrooculography: Almost invariably
in all forms of RP) reduced.
• Keratoconus • Atypical RP
• Myopia (frequently encountered) Retinitis punctata albescens: Scattered
white dots are located mostly between the
DIAGNOSTIC EVALUATION posterior pole and the equator.
Sector RP: Only one or two quadrants
• A constellation of characteristic signs and of the fundus are involved (Fig. S-25).
symptoms helps establish the diagnosis.
Pericentric RP: Pigmentary changes are
• Visual fields: Initially, there is a full or par- confined to the area around the posterior
tial ring scotoma in the midperiphery, which pole.
extends anteriorly as well as posteriorly, leav-
RP sine pigmento: Pigmentary changes
ing only a central island of vision in the late
in the fundus are either minimal or absent.
stages.
RP with exudative vasculopathy: Coats'
• Dark adaptometry: An elevation of the rod
disease-like appearance in the fundus.
as well as the cone segment ofthe dark adap-
tation curve occurs. On the basis of the dark
adaptometry results, autosomal-dominant RP PROGNOSIS AND
can be divided into two types: MANAGEMENT
Type I RP: Early-onset nyctalopia with
an early diffuse loss of the rod sensitivity • About one quarter ofpatients maintain
relative to cone sensitivity good vision and are able to read throughout
Type II RP: Adult-onset nyctalopia their lives. The autosomal-dominant form
with an equal loss of the rod and cone of the disease has the best prognosis, and
sensitivity the X-linked form has the worst
prognosis.
• Electroretinography: This may be sig-
nificantly subnormal even when the fundus • Only a few patients younger than 20 years
shows minimal changes. Severely reduced or of age have a visual acuity of 20I 400 or less.
almost extinguished scotopic ERG responses By the age of SO years, however, a significant
are observed, whereas the photopic ERG proportion of patients will have a visual acu-
is relatively unaffected. The cone b-wave ity of approximately 20 I 4-00.
implicit times, as elicited by flicker stimuli, • Electroretinography is helpful in identify-
are almost always prolonged in all forms of ing the female carriers ofX-linked RP (who
may have a normal fundus), which may have in a dose of 125 mg twice a day for 2 months
implications for genetic counseling. to confirm its beneficial effect. H effective,
• Appropriate investigations should be per- acetazolam.ide may need to be continued for
formed to rule out atypical forms of RP that many months in some patients.
may have an associated treatable systemic • Serial Goldmann perimetry should be
condition. Explain to patients that not all performed at regular intervals to assess visual
people with RP go completely blind. .field changes.
• Yearly follow-up is recommended to detect • The role oforal vitamin A therapy in
a precipitous fall in vision that may raise a slowing the rate ofprogression oftypical RP
possibility ofa treatable cause, such as cystoid remains controversial.
macular edema or cataract. Cystoid macular
• A variety oflow-vision aids may be
edema associated with RP responds favorably
helpful.
to oral acetazolamide, which is initially tried
PIGURB 5-23. lldbaltlt plgmemoa (RP). 1he classic clinical triad of waxy optic disc pallor, arteriolu
attenuation, and •bone-spicule" pigmentation (inset) in a patient with RP. (Court:eq ofhtina Slide Collection,
Wills Rye Hospital, Philadelphia, Pennsylvania, compiled by Dr. Tamara Vrabec and Dr. Gordon Byrne&.)
Retinitis Pigmentosa 2 31
FIGUllB 5-24. RP. .Arwiolar attenuation (:inset, A), optic disc pallor (arrow, B ), and pigmentary clwiga In
the fundus are the diarac:teristic fin.dings in patients with RP. V1Sual acuity wu reduced to finger counting vision
due to foveal changea. (Courtesy ofRetina Slide Collection, Wills Eye Hospital, Philadelphia, Pennsylvania,
compiled by Dr. Tamara Vrabec and Dr. Gordon Bymes.)
FIGUJlB 5-25. JlP, HICtor nriant. .Bquator-plUB color fundld photograph &bowing inferior sectorial retinal
pigmentary changes. (Courtesy of Retina Slide Colledion, Wills Bye Hospital, Philadelphia, Pennsylvania,
compiled by Dr. Tamara \lrabec and Dr. Gordon Byma.)
Systemic Diseases Associated with Retinitis Pigmentosa 133
• Treatment: Supplementation ofvitamins

SYSTEMIC DISEASES A and E may be beneficial. Oral supplemen-
ASSOCIATED WITH tation ofvitamin A to reverse the psycho-
RETINITIS PIGMENTOSA physical and electrophysiologic abnormalities
remains controversial.
USHER'S SYNDROME
REFSUM'S DISEASE
sher's syndrome is denned as congenital
U or progressive hearing loss associated
with RP and is the most common syndrome
(HEREDOPATHIA ATACTICA
POLYNEURITIFORMIS)
associated with RP. Approiimately 4% of
efsum.'s disease is an autosomal-recessive
children attending schools for the deaf have
RP, and 50% of blind-deaf individuals have R disorder caused by a metabolic abnor-
mality that results in a deposition of phytanic
Usher's syndrome.
acid in many body tissues, including the eyes.
• Pigmentary retinopathy: It is progressive
and develops before puberty. • Pigmentary retinopathy: Nyctalopia is
almost always present. Fundus pigmentation
• Systemic features: Usher's syndrome is
is generally of a "salt-and-pepper" rather than
divided into four subtypes, and types I and II
"bone-spicule" type.
constitute the majority ofcases.
• Systemic features: Hypertrophic periph-
Type I: Profound congenital deafness,
abnormal vestibular functions, and early- eral neuropathy, cerebellar ataxia, deafness,
ichthyosis, cardiac arrhythmias, and elevated
onset RP
cerebrospinal fluid protein.
Type II: Partial deafness, intact vestibu-
lar functions, and a milder form of RP • Treatment: Normalization of the
elevated serum phytanic acid levels by a
low phytanic acid diet may improve retinal
BASSEN-KORNZWEIG
function, and stop or slow the progression
SYNDROME of disease.
(ABETALIPOPROTEINEMIA)
his disorder is thought to be caused by an

COCKAYNE'S SYNDROME
T inability of the body to synthesize apoli-
poprotein B, which helps in the absorption of
• Pigmentary retinopathy: ·salt-and-pepper
type" with arteriolar attenuation and optic
fats in the small intestine.
nerve pallor.
• Pigmentary retinopathy: It develops at the • Systemic features: Childhood dwarfism
end ofthe first decade oflife. Ptosis and ocu- with cachectic and prematurely aged appear-
lar motility disturbances may also be seen. ance. Affected children have a small head with
• Systemic features: Spinocerebellar ataxia, characteristic bird-like fades, and dispro-
acanthocytosis, and abetalipoproteinemia portionately large hands and feet. Deafness,
are noted. Fat malabsorption and associated photodermatitis, nystagmus, ataxia, and pro-
deficiency offat-soluble vitamins, particu- gressive mental retardation are associated fea-
larly A and B, is present, and jejuna! biopsy is tures. Death may occur in the third or fourth
diagnostic. decade oflife.
KEARNS-SAYRE SYNDROME MUCOPOLYSACCHARIDOSES
T his syndrome is a mitochondrial myopa-

thy in which an increased number of
distorted mitochondria are accumulated in
T his group of metabolic disorders is
caused by a deficiency of lysosomal
enzymes involved in the degradation of many
the skeletal muscles (including the extraocu- mucopolysaccharides, such as dermatan sul-
lar muscles), RPE, and heart. Histologically, fate, heparan sulfate, and keratan sulfate. An
affected muscles show "ragged-red" fibers, abnormal deposition of the nondegraded
caused by the accumulation of mitochondria mucopolysaccharides leads to multiple organ
beneath the plasma membrane and between system dysfunction.
myofibrils.
• Genetics: Autosomal recessive, except
• Pigmentary retinopathy: Variable appear- Hunter's disease, which is X-linked recessive.
ance. Diffuse retinal pigment epithelial mot- • Ocular features: Retinal pigmentary
tling may be observed. degeneration-found in Hurler's, Hunter's,
• Systemic features: Combination of chronic and Sanfi.lippo's diseases; corneal stromal
progressive external ophthalmoplegia (most infiltration; optic nerve head swelling; optic
common finding), pigmentary retinopathy, atrophy; and glaucoma (rare).
and complete heart block (may cause death). • Systemic features: Facial coarseness,
This condition usually becomes manifest skeletal anomalies, and heart disease.
before the age of 20 years.
NEURONAL CEROID
BARDET-BIEDL LIPOFUSCINOSIS
SYNDROME (BATTEN DISEASE)
• Pigmentary retinopathy: "Bull's-eye" mac-
ulopathy occurs in most cases. A few cases
are similar to typical RP with "bone-spicule"
T his group of disorders is characterized
by an accumulation of autofluorescent
lipopigments in the neurons as well as in non-
pigmentation.
neural tissues. Four types are differentiated, as
• Systemic features: Mental handicap, poly- follows:
dactyly, obesity, and hypogenitalism; renal
abnormalities (in most cases). • Infantile type (Hagberg-Santavuori)
Generalized retinal degeneration
LAURENCE-MOON Brownish discoloration of the macula
SYNDROME Early visual loss
Optic atrophy
• Retinopathy: Either typical RP type or Mental retardation and motor abnor-
choroidal atrophy. malities between the ages of 1 and
• Systemic features: Spastic paraplegia, men- 11h years
tal handicap, and hypogenitalism. • Late infantile type (Jansky-Bielschowsky)
Systemic Diseases Associated with Retinitis Pigmentosa 2 3S
Generalized retinal degeneration and FRIEDREICH'S ATAXIA

optic atrophy
Seizures and psychomotor problems
with an onset between 2 and 4 years F riedreich's ataxia is an autosomal-
recessive inherited disorder caused by a
disturbance ofpyruvate metabolism. Onset of
of age
symptoms is noted between 10 and 20 years
• Juvenile type (Spielmeyer-Vogt)
of age.
Most common
"Bull's-eye" maculopathy with even- • Ocular features
tual development of RP-like clinical pic- Pigmentary retinopathy
ture: May need to be differentiated from Vestibular nystagmus
Stargardt's disease
Optic atrophy
Reduced vision
Vertical gaze paresis
Progressive mental deterioration
• Systemic features
Seizures (occasionally)
Cerebellar ataxia
Average age of death: 17 years
Absence of tendon reflexes
• Adult-onset (KUFS)
Scoliosis
No ocular abnormalities
Cardiomyopathy: Often the cause of
Benign; not fatal death in the third to fourth decade oflife
Nyctalopia
CARCINOMA-ASSOCIATED
Prolonged dark adaptation
RET INOPATHY SYNDROME
Ring scotoma
C arcinoma-associated retinopathy (CAR)

syndrome, also known as paraneoplasti.c
retinopathy, is a visual paraneoplastic disorder
• Fundus features
Early stages may be normal (Fig. S-26)
Late finding: Narrow retinal arterioles
in which autoantibodies against tumor antigen
cross-react with retinal proteins, resulting in Retinal pigment epithelial mottling
rod and cone photoreceptor dysfunction. Optic nerve pallor
EPIDEMIOLOGY ASSOCIATED
AND ETIOLOGY CLINICAL FEATURES
• Age at presentation is variable. • Systemic features of the underlying malig-

nancy may or may not be present.
• '!here is no gender preference.
• Associated malignancies include:
Small cell carcinoma of the lung (most
common)
• Decreased vision from retinal cause and
Gynecologic, breast, endocrine, or normal-appearing fundus
other visceral malignancies
• Stargardt's disease
• In CAR syndrome, autoantibodies cross-
• Cone dystrophy
react with the protein recoverin, located
within the photoreceptors. • Twig branch retinal vein occlusion
• Twig branch retinal artery occlusion
HISTORY • Toxic retinopathy

• Reperfused central retinal artery occlusion
• 'Ihe typical presentation is severe, pro- • Age, family and medication history, bilat-
gressive, bilateral visual loss over a period of erality, ftuorescein angiography, and the elec-
months, with relatively unremarkable fundus. trophysiologic tests help to differentiate CAR
• VlSUal symptoms may precede diagnosis of syndrome from the preceding disorders.
the underlying malignancy.
CLINICAL SIGNS
• Typical set of symptoms and signs
• Cone dysfunction: As evidenced by: • Color vision: Reduced
Decreased visual acuity • Visual fields: Typically, ring scotoma
Photosensitivity • Dark adaptometry: Prolonged dark
Reduced color vision adaptation
Central scotoma • Electroretinography: Reduced amplitudes
• Rod dysfunction: As evidenced by: of both rod and cone responses
Carcinoma-Associated Retinopathy Syndrome 2 37
• Serum anti-recoverin antibodies • Various treatment measures have been

• Systemic oncologic evaluation tried, but their role in improving the visual
prognosis remains to be proven. 'These mea-
sures include treatment of the underlying
PROGNOSIS AND
malignancy, steroids, plasmapheresis, and
MANAGEMENT intravenous immunoglobulins.
• Ifphotoreceptors are sufficiently damaged,

visual functions are usually permanently altered.
FIGUllB 5-26. Cardnoma-U8ociated retinopatlry (CAil) a.,ndrome. A. Normal fundua but decreased vision.
B. Severe and gmeralized visual field depression.
(continued)
Carcinoma-Associated Retinopatby Syndrome 2 39
ELECTRDRETINOGRAr1
..,
#
~
2
:;
~
>
sr-r.. ..._~+./
-'I
; ,,.·
.- l . _
- - -
- ----~ ............... ,,,,.,,......__
>:>
!5 ~
-2 n- L.-t--~--i------·-------------------
~ >
~
'i
~
iii
>
~
~
~
c=
FIGUllB .S-26. ( Contin~d) Cudnoma-llMOdatecl retmopatby (CAll) syndmme. C. Near completely

eztinguilhed electroretinogram. D. Mus lesion in the right lower lobe of the lung diagnosed u miall aill
cardnoma causing CAR syn.drom.e. (Courtesy of Dr. William Tuman and the Retina Slide Collection, WiDs
Bye Hospital, Philadelphia, Penmylvania, compiled by Dr. Tamara and Dr. Gordon .Bymea.)
CHAPTER
Retinal and Choroidal Tumors

Franco M. Recchia •
ASTROCYTIC HISTORY
H AMARTOMA • Patients with astrocytic hamartomas are
usually asymptomatic. Visual field testing may
strocytic hamartoma is a congenitaL
A minim.ally progressive, benign tumor
arising from the glial cells of the retina and
reveal a scotoma in the area corresponding to
the tumor.
usuallylocated around the optic disc. It is often
associated with the systemic condition tuber-
ous sclerosis (Bourneville's disease), occasion- IMPORTANT
ally with neurofibromatosis, but also occurs CLINICAL SIGNS
sporadically in otherwise normal individuals.
• The appearance of a retinal astrocytic ham-
artoma is principally oftwo types:
Smaller, noncalcified, flat, smooth
EPIDEMIOLOGY tumor that appears as mild thickening of
AND ETIOLOGY the nerve fiber layer
Larger, calcified, whitish-yellow nodular
• Most astrocytic hamartomas occur con-
mass (•mulberry lesion")
genitally in association with tuberous sclerosis
(TS), a familial phak.omatosis characterized • Aspects of both may be seen in the
by the triad ofseizures, mental retardation, and same lesion, as it is lilcely that calcification
skin lesions. TS has an estimated incidence progresses slowly over many years
of 1in15,000 to 1in100,000 and exhibits (Fig. 6-1).
autosomal-dominant inheritance. Roughly half • Every patient with an astrocytic ham.ar-
ofthe patients with TS have astrocytic ham- toma ofthe retina or optic nerve must be
artomas. Causative genes have been identified evaluated for TS. Typical manifestations of
on chromosomes 9q34 and 16p13. TS include:
240
Astrocytic Hamartoma 2 41
Skin lesions (-95% incidence) • Retinal granuloma

~ Hypomelanotic macules: Oval ("ash- • Drusen of the optic disc
leaf"), polygonal, or punctate ("con- • Papillitis
fetti") in shape. Usually present at birth
and often the first presenting sign.
~ Reddish-brown papular rash over
the face (termed adenoma sebaceum, • Fluorescein angiography: 'Ihe tumor
but actually angiofibromas), often mis- appears relatively hypofluorescent in the
taken for acne. Rarely present before a arterial phase. Superficial fine blood vessels
few years of age. are seen during the venous phase. 'Ihe tumor
Seizures (-90% incidence): Myoclonic stains intensely and homogeneously in the
spasms lasting 10 to SO seconds; tend to late phases.
become grand mal type later in life. • B-scan Ultrasonography: A larger, calcified
Mental retardation (-60% incidence) lesion often appears as a discrete, oval, solid
mass with a sharp anterior border.
ASSOCIATED • Neuroimaging: Subependymal hamarto-
CLINICAL SIGNS mas, characteristic of TS, may be seen with
computed tomography (CT) or magnetic
• Ocular: Occasionally, may produce vitre- resonance imaging (MRI).
ous hemorrhage, vitreous seeding, subretinal
hemorrhage, or retinal detachment. PROGNOSIS AND
• Systemic (additional manifestations of MANAGEMENT
TS): Ungual fibromas, pleural cysts (lead-
ing to spontaneous pneumothorax), renal • The vast majority of retinal astrocytic
angiomyolipoma, cardiac rhabdomyoma, and hamartomas are asymptomatic and do not
hamartomas of the liver, thyroid, pancreas, or require treatment.
testis may occur. • Associated retinal detachment can
often be treated with demarcating laser
DIFFERENTIAL DIAGNOSIS photocoagulation.
• Patients and family members should
• Retinoblastoma (Rb) be examined regularly for manifestations
• Myelinated nerve fibers of TS.
242 6 RETINAL AND CHOROIDAL TUMORS
FIGUJlB 6-1. Adrocytic hamartoma. A petipapmary utrocytic hamartoma can be 1een with clauic mulberry
cakifi.cation overlying an underlying smooth tumor. Pa.ti.enb and family members thould be eumined for
tuberous scleroaia. Courtesy of Dn. Jerry md Carol Sbielda, Oncology Service, WW. Bye Hoapital, Philadelphia,
Pennsylvania.
Retinoblastoma 243
HISTORY
RETINOBLASTOMA
• A white pupillary reflex (leukokoria;
D b is the most common intraocular malig-
Fig. 6-2) and strab.ismus are the two most
.1.'-nancy of children. It may be familial but
common findings reported by parents. In
most often is sporadic in occurrence. The
fewer than 1096 ofcases is a family history
tumor arises from cells in the developing retina
known at the time of diagnosis.
of one or both eyes as a result of mutations in
the Rb) tumor-suppressor gene. Rb presents
most often as a white intraocular mass with IMPORTANT
propensity for direct extension into the brain CLINICAL SIGNS
and almost certain mortality ifuntreated.
• Most patients present with leukokoria and
EPIDEMIOLOGY strab.ismus. Small retinoblastomas appear as
.ft.at, translucent, white retinal lesions
AND ETIOLOGY
(Fig. 6-3A). With growth, the tumor appears
more solid, elevated, and chalky-white, with
• Rb occurs in approximately 1 in 15,000
overlying dilated tortuous blood vessels.
live births. Most children are diagnosed at a
mean of 18 months. • Three growth patterns have been
described.
• No predilection for race or gender has
been shown. Endophytic; 'Ihe tumor grows from the
retina inward to seed the vitreous cavity or
• Roughly two-thirds ofthe cases are unilat-
anterior chamber.
eral, and one-third is bilateral. Unilateral cases
are more likely to be diagnosed at an older Emphytic: 'Ihe tumor grows from the
age (mean of 24 months) and are most often retina outward to occupy the subretinal
nonfamilial (sporadic). Bilateral cases are space, often causing an emdative retinal
diagnosed at a mean of 12 months, are usually detachment (Fig. 6-3B).
familial, and are nearly always multifocal. • Diffuse infiltrating: The least com~
• Rb results from mutations or loss of both mon form; this is characterized by shal-
alleles of the Rb gene, located on cluomo- low spread of tumor along the entire
some 13ql4. 'Ihe Rb gene product appears retina and into the vitreous and anterior
to function as regulator of cellular prolifera- chamber.
tion through inhibitory effects on gene tran- • Other important findings are iris neovas-
scription at specific stages of the cell cycle. cularization, which occurs in nearly one-fifth
'Ihe timing of allelic inactivation determines of all cases, and ·pseudohypopyon" (settling
whether the mutation is germinal (i.e., heri- oftumor and inflammatory cells in the ante-
table by offspring of the affected child) or rior chamber).
somatic (nonheritable). In germinal cases, a
mutant allele is present before fertilization, ASSOCIATED
most commonly as a result ofinheritance
CLINICAL SIGNS
from either parent. In somatic cases,
both alleles are present and active at fertil-
• Clearlens
ization, and spontaneous mutations in each
allele arise subsequently. • Heterocluomia iridis
• Spontaneous hyphema retinoblastomas), assessing extraocular exten-

• Extrascleral extension sion, and identifying the presence of pineal
tumors.
• Pinealoblastoma ("trilateral
retinoblastoma•) • Fluorescein angiography reveals early
arterial filling of the vessel feeding the tumor,
leakage of dye from intrinsic tumor vessels,
DIFFERENTIAL DIAGNOSIS and late hyperfluorescence of the tumor.
• Leukokoria
PROGNOSIS
Coats' disease
Persistent fetal vasculature syndrome • Spontaneous regression is rare and leads
(formerly termed persistent hyperplastic to phthisis bulbi. Typically, if untreated, chil-
primary vitreous, or PHPV) dren die within 2 years of diagnosis. Early
Toxocariasis detection, coupled with improvements and
Retinopathy of prematurity promptness of treatment, has reduced the
mortality rate to less than 10%. The main
Familial exudative vitreoretinopathy
determinant for mortality is optic nerve inva-
Retinal astrocytoma sion. For this reason, it is imperative to obtain
Cataract as long a section of optic nerve as possible
Norrie's disease during enucleation.
Incontinentia pigmenti • Prognostic factors for failure to preserve

vision or to preserve the eye are larger
• Vitreous seeding
tumor size, vitreous seeding, and macular
Intraocular inflammation involvement.
Endophthalmitis • Children with germinal Rb have an
Vitreous hemorrhage increased risk of developing other primary
Leukemic infiltration malignancies over the course of their life-
times. These tumors include principally
intracranial Rb, osteogenic sarcoma of the
DIAGNOSTIC EVALUATION long bones, and sarcoma of soft tissues. The
risk is estimated to be 2096 within 25 years of
• Detailed systemic evaluation and examina- treatment.
tion is required, as well as family history and
ocular examination of parents, and complete MANAGEMENT
examination of both eyes (often requiring
anesthesia for complete visualization of the • Children diagnosed with Rb should
fundi with scleral depression). undergo evaluation for systemic involvement,
• Ultrasonography: An elevated, rounded, including complete blood count, lumbar
intraocular mass is seen, with high internal puncture, neuroimaging, and bone marrow
reflectivity (calcification) and shadowing of biopsy. Genetic testing of the child and family
sclera and soft tissue posterior to the lesion. members should be performed.
• CT is helpful in detecting intraocular • Individual treatment varies according
calcification (present in roughly 80% of to number, size, and location of tumors, as
Retinoblastoma 24S
well as systemic status. Therapeutic options • In familial cases, genetic counseling pro-
include cryotherapy, laser photoooagulation, vides parents with important information
enucleation, external-beam irradiation, plaque regarding the probability of further occur-
radiotherapy, chemotherapy, thermotherapy, rences. Patients with germinal Rb must be
and cbemothermotherapy. warned ofthe possibility of transmission to
• Chemoreduction prior to definitive ocular their offspring.
treatment may be helpful in reducing the
need for enucleation and reducing the rate of
occurrence of pinealoblastoma.
PIGURB 6-2. :a.ttno'blutoma. nm young boy bas leukok.oria and ltrabi1mw, the moat common clinical
presentation ofretinoblutoma. Courtesy ofDrs.Jerry and Carol Shields, Oncology Service, Wlila Eye Hospital,
Philadelphia, Pennsylvania.
FIGUBB 6-3. :Rd:lno'blutoma. A. Pow retinoblastoma presenting as a macular intraretinal amelanot:H: tumor.
B. Massive exophyt:tc retinoblastoma with tumor behind the clear lena. Courtesy of.Dn. Jerry and Carol Shields,
Oncology Service, Willi Bye Hospibl, Philadelphia, Permsylvania.
Retinal CapillaryHemangioma 24 7
IMPORTANT
RETINAL CAPILLARY
CLINICAL SIGNS
HEMAN GI OMA
• Retinal capillary hemangioma: Usually
riginally termed angiomatosis retUuu,
0 retinal capillary hemangioma is a benign
vascular twnor of variable size located in the
located peripherally and well circwnscribed.
Initially appears as a yellow-red dot with a
minimally dilated •reeding" arteriole or drain-
retina or adjacent to the optic disc. Usually
ing venule (Pig. 6-4). With growth, appears
diagnosed by the fourth decade, it may be
orange-red with more prominently dilated
the first manifestation of von Hippel-Lindau
afferent and efferent vessels. May have associ-
(VHL) disease, a familial cancer syndrome with
ated exudation, subretinal B.uid, or preretinal
which it is commonly associated.
fibrosis.
• Ju:xtapapillary capillary hemangioma:
EPIDEMIOLOGY Orange-red in color, but less well circum-
AND ETIOLOGY scribed. It often lacks feeder vessels.
• VHL syndrome: Hemangio-blastomas of
• 1his twnor may occur in a sporadic or the cerebellum and spinal cord, renal cell car-
hereditary fashion. Retinal capillary heman-
cinoma, or pheochromocytoma.
gioma occurs in up to 8096 of patients with
VHL syndrome and is often the first manifes-
tation, diagnosed at a mean age of25 years. ASSOCIATED
• The VHL syndrome has an estimated CLINICAL SIGNS
prevalence of 1 in 40,000 and is possibly
more common in whites. It exhibits dominant • Retinal detachment and, rarely, neovas-
inheritance and has variable phenotypes cular glaucoma may complicate capillary
within .families. hemangioma.
• Mean survival of patients with VHL is • Hemangiomas ofthe adrenal glands, lungs,
41 years ofage. and liver, and multiple cysts ofthe pancreas
and kidneys have been observed in some
• VHL syndrome is caused by mutations
patients with VHL syndrome.
in the VHL gene, a twnor-suppressor gene
located on chromosome 3p25. The VHL gene
product regulates the expression and function DIFFERENTIAL DIAGNOSIS
ofbypoxia-responsive angiogenic factors
[e.g., vascular endothelial growth factor • Retinal capillary hemangioma
(VBGF)]. Other tumors: Retinal cavernous hem-
angioma, racemose hemangioma, choroi-
HISTORY
dal melanoma, and astrocytic hamartoma
• Capillary hemangiomas may be diagnosed Vascular diseases: Coats• disease, retinal
incidentally or in patients suspected ofhav- arterial macroaneurysm, familial em.dative
ing VHL syndrome. The twnors may be vitreoretinopathy, and emdative macular
asymptomatic or may produce painless visual degeneration
impairment from vitreous hemorrhage, macu- • N.B.: A distinction has been made
lar pucker, or retinal detachment. between the retinal angioma ofVHL
syndrome and an acquired, nonhereditary PROGNOSIS AND

entity occurring in older patients and MANAGEMENT
termed vasoproliferative retinal tumor. This
latter condition is usually located in the • The natural history is variable, with both
inferotemporal peripheral fundus and lacks progressive enlargement and spontaneous
markedly dilated feeder vessels. regression having been reported. Visual prog-
• Optic disc hemangioma nosis is highly variable and depends on tumor
Papillitis location, size, and associated complications,
especially those that involve the macula.
Optic disc granuloma
• In patients with VHL syndrome, risk of
Optic disc glioma
developing associated tumors increases with
age. Morbidity and mortality are related to
these associated tumors. Median survival is
DIAGNOSTIC EVALUATION less than 50 years, with renal carcinoma as the
leading cause of death.
• Ocular: Fluorescein angiography is the • Treatment is recommended for tumors with
most helpful ancillary study. In the arterial documented growth or effects on visual func-
phase, a prominent, dilated feeder arteriole tion. The goal of treatment is to induce resolu-
may be seen. The tumor appears hyperfluo- tion of exudation or subretinal fluid. Laser
rescent early and remains so through the photocoagulation is reserved for smaller tumors
late phases, sometimes leaking dye into the (less than 2 mm in diameter). Larger tumors
vitreous. Ultrasonography may be helpful in are best treated with cryotherapy or plaque
diagnosing lesions of greater than 1 mm and radiotherapy. Vitreoretinal surgery, and, rarely,
demonstrates acoustic solidity throughout enucleation may be necessary for patients with
the lesion. advanced or uncontrollable pathology.
• Systemic: All patients with retinal capil- • Patients with VHL syndrome and their
lary hemangioma, as well as relatives, should relatives should be examined regularly for
be evaluated for VHL syndrome. Genetic life. This includes regular testing for urine cat-
testing for mutations in the VHL gene is echolamines, CT and ultrasonography of the
available. kidneys, and MRI of the brain.
Retinal Capillary Hernangioma 249
FIGUJlB 6-4. Retinal capillary ]le1nangtoma Note the dilated feeding retinal arteriole ( "'"'"') and the
1egmented draining retinal vein ( am>Wheatl) with associated maatlar edema, premacular fibroaia, and lipid
e:z.udation. 'Jhae luiona may be the 6rst manifettatlon ofvon Hippel-Lindau diae.aae. Courteay ofDr1.Jerry
and Carol Shields, Oncology Service, Wills .Bye Hospital, Philadelphia, Pennsyha.Dia.
• There may also be cutaneous vascular

RETINAL CAVERNOUS malformations.
HEMANGI OMA
• Cavernous hemangiomas ofthe midbrain
or cerebellum may produce seizures or sub-
etinal cavernous hemangiomais a benign,
R rarely progressive, vascular tumor of the
retina or optic disc characterized by a collec-
arachnoid hemorrhage.
tion ofvenous aneurysms. It may be associated

with similar vascular anomalies ofthe skin and
central nervous system (CNS).
• Capillary hemangioma
• Acquired vasoproliferative tumor
EPIDEMIOLOGY
• Racemose hemangioma
AND ETIOLOGY
• Coats• disease
• Tumor occurrence is mostly sporadic.
• Small pedigrees of patients with cavernous DIAGNOSTIC EVALUATION
hemangioma as part of a dominantly inher-
ited oculoneurocutaneous syndrome have • Fluorescein angiography produces a typi-
been reported. cal pattern: The lesion is hypofluorescent
in the early arterial phase and exhibits slow
HISTORY hyperfluorescence during the late venous
phase as dye enters the venous channels.
• Patients are usually asymptomatic, but the A fluorescein-blood interface may be seen
tumor may produce painless visual loss. within the aneurysms in the late phases of the
• A hereditary component may be noted. angiogram.
IMPORTANT
PROGNOSIS AND
CLINICAL SIGNS
MANAGEMENT
• A cluster of dark-red, intraretinal aneu-
• Most cavernous hemangiomas do not
rysms is located along a retinal venule,
appearing as a •cluster ofgrapes" arising enlarge and can be managed with periodic
observation.
from the inner retinal surface (Fig. 6-5).
Often there is overlying gray fi.broglial tissue. • 'Ihe main complication is vitreous hemor-
Usually the tumor does not have associated rhage, although this rarely causes permanent
exudation or a feeding arteriole. visual loss.
• Tumors causing recurrent vitreous
ASSOCIATED hemorrhage may be treated with cryo-
CLINICAL SIGNS therapy, laser photocoagulation, or plaque
radiotherapy.
• Vitreous hemorrhage occurs in up to 10%
ofcases.
Retinal Otvemous Hemangioma 2 51
FIGURB 6-5. Jletinal cneraoa1 hemaagioma. Note the •cllWl:er of grapes• appearance of thae intraretinal
aneuryam.s (inset). There is a luk of emdation, and surface gray retinal fi.brout ti1sue is noted. Courtesy of
Dra.•Jury and Carol Sbieldl, Oncology Service, Willa Bye Hospital, Philadelphia, Pennaylvania.
Multifocal: Also termed congenital

CONGENITAL grouped pigmentation or ·bear tracks."
HYPERTROPHY OF THB Groups of 3 to 30 small ( 0.1 to 2 mm)
RETINAL PIGMENT lesions typically appear in one sector of the
EPITHELIUM midperipheral retina. Usually they lack the
internal lacunae and hypopigmented halo
DEFINITION of the solitary form.
• Multifocal fundus lesions resembling
ongenital hypertrophy of the retinal pig- CHRPE have been reported in close associa-
C ment epitheUum (CHRPE) is a benign,
asymptomatic condition, consisting of one or
tion with Gardner's syndrome (Fig. 6-7),
a familial condition ofcolonic polyps and
more well-demarcated, pigmented, .flat, non- extra.intestinal osteomas and fibromas with
progressive lesions, usually found in the equa- invariable progression to colonic cancer. The
torial or peripheral fundus. In rare instances, lesions associated with Gardner's syndrome,
multifocal lesions may be associated with however, are bilateral, have irregular borders,
familial colonic polyposis. and are often scattered in the fundus.
EPIDEMIOLOGY DIFFERENTIAL DIAGNOSIS

AND ETIOLOGY
• Malignant choroidal melanoma
• The condition is probably congenital. • Cboroidal nevus
• It occurs with equal frequency in blacks • Combined hamartoma ofthe retina and
and whites. retinal pigment epithelium (RPE)
HISTORY DIAGNOSTIC EVALUATION
• Patients are usually asymptomatic. Often • Diagnosis is based on typical ophthalmo·

the disorder is noted as an incidental finding scopic features. By fi.uorescein angiography;
during ophthalmoscopy. the tumor exhibits persistent hypoB.uores·
cence. Lacunar areas are seen as hyperfluores-
IMPORTANT cent, consistent with depigmentation of the
CLINICAL SIGNS RPE.
• Two forms have been described. PROGNOSIS AND

Solitary: Unilateral, deeply pigmen- MANAGEMENT
ted, .flat, circular lesion measuring 1 to
6 mm in diameter. Usually sharply • Most CHRPE lesions are nonprogressive
demarcated, the lesion may be solid and require only periodic examination. In rare
black, or ringed with a small border of instances, mild enlargement may occur.
hypopigmentation. Lacunar areas of • Patients with bilateral lesions suggestive of
depigmentation within the lesion may those seen in Gardner's syndrome should be
be seen (Fig. 6-6). referred for colonoscopy.
Congenital Hypertrophy ofthe Retinal Pigment Epithelium 2 5 3
FIGURB 6-6. Coapmtal lrppertroplry of the retmalpiglll.ent epithelhun. Note the ah.up, di.am borders
of the lesion u well u the lac:unar areu of depigmentati.on ( "'""") within the lesion. Courtesy ofIm.Jerry and
Carol Shielc:U, Oncology Suvice, Wilh .Bye Hospital, Philadelphia, Penmylvania.
FIGUBB 6-7. Plgmentecl fand1U11-ion, Gwclner'• llJDdrome. Pigmented lesion associated with Gardner's
syndrome and familial gutrointestinal cancer. A depigmented •tan• (anvwheads) ii noted adjacent to the
pigmented fundu1 le.ion (in1eta). Courtesy of DB.Jerry and Carol ShWd1, Oncology Service, Willi .Bye
Hospital, Philadelphia, Pennsylvania.
Combined Hamartoma of the Retina and RetiDal Pigment Epithelium 2 5S
vessels toward the lesion by the overlying

COMBINED HAMARTOMA membrane.
OF THE RETINA AND
RETINAL PIGMENT ASSOCIATED
EPITHELIUM CLINICAL SIGNS
C ombined hamartoma of the retina and

RPE is a benign, slightly elevated, partially
pigmented tumor located around the optic
• Choroidal neovascularization
• Vitreous hemorrhage
• Manifestations of neurofibromatosis type
nerve or in the peripheral fundus. It is composed
2 (bilateral acoustic neuromas, brain menin-
histologically of proliferated glial cells, fibrovas-
giomas, spinal cord schwannomas, posterior
cular tissue, and pigment epithelial cells.
subcapsular cataracts)

AND ETIOLOGY
• Choroidal melanoma
• The tumor is often diagnosed by early
• Choroidal nevus
adulthood. 'Ihe preponderance of cases in
infants and young children suggests that the • Reactive hyperplasia of the RPE
lesion may be congenital • Melanocytoma
• An association of combined hamartomas, • When lightly pigmented and occur-
usually macular and sometimes bilateral, ring in children, may be mistalcen for Rb or
has been seen with neurofibromatosis (most toxocariasis
commonly type 2).
HISTORY
• Diagnosis is based on ophthalmoscopic
• In cases of juxtafoveal lesions, there is features. Fluorescein angiography reveals
painless visual loss from epimacular mem- multiple, dilated, fine blood vessels within the
brane traction or subretinal exudation. tumor, which may become hyperfluorescent
as the angiogram progresses.
IMPORTANT
CLINICAL SIGNS PROGNOSIS AND
MANAGEMENT
• Juxtapapillary variant: lli-defined, elevated,
charcoal-gray mass adjacent to, or overlying, • Since lesions are usually not progressive,
the optic disc. A gray-white membrane over- regular observation is appropriate. However,
lying the tumor causes stretching ofretinal contraction of overlying fibroglial tissue leads
blood vessels and retinal striae, often involv- to macular distortion, secondary retinoschi-
ing the macula (Fig. 6-8). sis, and retinal holes.
• Peripheral variant: Slightly elevated, • In cases ofvisual loss, vitrectomy and
pigmented ridge concentric to the optic membrane stripping may be perfonned., but
disc. '!here is dragging of dilated retinal visual recovery is limited.
FIGUJlB 6-1. Combined llamartoma of the ntiDa and retinal pigment epilhellam. 'Ihia ia an aample of the
jlD.tapapillary '9Uiant of the le.ion. The edge of an apparent membrane it noted mott prominently on the nual
aspect of the le.ion. There ii marked di1tortion and tortaoJity of the involved retinal vuculature. Courtesy of
Dn.Jerry and Carol Shields, Oncology Service, Wills Bye Hospital, Philadelphia, Pennsylvania.
ChoroidalNevus 257
ASSOCIATED
CLINICAL SIGNS
horoidal nevus is a common, benign
C tumor of the posterior fundus. Although
usually .fiat or minimally elevated, and gray or
• Serous detachment ofthe neurosensory
retina or RPE
brown in appearance, it may show variable • Choroidal neovascularization
degrees ofpigmentation.
EPIDEMIOLOGY
• Pigmented lesion
• Prevalence in the general population is • Choroidal melanoma
estimated to be 1% to 6%. The tumor occurs • Congenital hypertrophy of the RPE
much more commonly in whites.
Combined hamartoma ofthe retina and
RPE
HISTORY Subretinal hemorrhage
• Amelanotic lesion
• Patients are usually asymptomatic, and
the tumor is generally discovered incidentally Circumscribed choroidal hemangioma
during routine ophthalmoscopy. • Choroidal osteoma
• Vision may be reduced from extension of • Choroidal metastasis
associated subretinal fluid into the macula, or Inflammatory lesion
from an associated serous retinal detachment

CLINICAL SIGNS
• Diagnosis is based on characteristic oph-
• The tumor is most often slate gray or thalmoscopic features. Fluorescein angiogra-
brown in color, but it may be heterogeneously phy, although not specific for choroidal nevus,
pigmented or even amelanotic (pale yellow). may provide confirmatory evidence. Areas
ofdeep pigmentation are hypofluorescent,
• Choroidal nevi are usually 1 to S mm in
whereas areas ofoverlying RPE alteration will
diameter, fiat or minimally elevated (less than
appear hyperfluorescent.
2 mm in anteroposterior dimension), with ill-
defi.ned margins. • Ultrasonography may be helpful for estab-
lishing baseline thickness.
• Drusen overlying the tumor are common
and signify chronidty of the lesion (Fig. 6-9).
• Alterations ofthe overlying RPE include PROGNOSIS AND
pigment clumping and fibrous metaplasia MANAGEMENT
(yellow-white plaques). ·orange pigment" at
the level ofthe RPE represents aggregates of • All small choroidal melanocytic
macrophages containing lipofuscin granules tumors have the potential for malignant
and may suggest growth or malignant trans- transformation and metastasis. Risk factors
formation of the nevus. for growth include greater thiclcness (larger
258 6 RET INAL AND CHOROIDAL TUMORS
than 2 mm), proximity to the optic disc, • Management consists of baseline photo-
orange pigment on the surface of the tumor, graphs and regular examination to establish
and presence of subretinal fluid. The chance quiescence or growth of the nevus. Serial
of growth of small, flat (•nonsuspicious") photographs, ultrasonography, and more fre-
lesions lacking these clinical features is less quent examinations are indicated in cases of
thanS%. suspected growth.
FIGURB 6--9. Choroldal nevu. Thia is a minimally elevabd choroidal pigmented lesion with overlying
drusen ( am>W). No orange pigment or submacular fluid suggestive of potential transformation of a malignant
choroidal melanoma is nobd. Courtesy ofDrs. Jerry and Carol Shielda, Om:ology Service, Wills Eye Hospital,
Philadelphia, Penmylvania.
Choroidal Melanoma 2 5 9
IMPORTANT
CHOROIDAL MELANOMA
CLINICAL SIGNS
horoidal melanoma is the most com-
C mon primary intraocular malignancy,
occurring most often in white adults. Dome-
• The tumor appears as a dome-shaped,
elevated choroidal mass, typically confined
or mushroom-shaped, this variably pig- to the subretinal space. About 20% ofchoroi-
mented mass arises from the choroid of one dal melanomas break through Bruch's mem-
eye. It has a propensity for metastasis to the brane and take on a characteristic mushroom
liver. shape.
• Color varies from brown to gray to pale
EPIDEMIOLOGY yellow (amelanotic), with overlying clumps
AND ETIOLOGY oforange pigment, representing collections of
lipofuscin (Fig.6-10).
• The incidence is 1 in 2000 to 1 in 2500 in • Associated subretinal fluid, usually sur-
Caucasians. In the United States, choroidal rounding the base ofthe lesion, may be noted,
melanoma is nearly ten times more common and the tumor may lead to total serous retinal
in whites than in A&ican Americans. detachment.
• There is no gender predilection.
• The tumor is uncommon in people ASSOCIATED
younger than 30, but incidence increases with CLINICAL SIGNS
age and the average age at diagnosis is in the
sixth decade. • Vitreous hemorrhage
• Risk. factors may include prolonged expo- • Subretinal hemorrhage
sure to ultraviolet light, congenital oculoder- • Choroidal neovascularization
mal melanocytosis {nevus of Ota), and family
• Ext:rascleral extension with orbital
history.
invasion
• The tumor arises from dendritic mela-
nocytes ofthe choroid. Histopathologically,
there are two major categories ofcells: spin-
dle cells and epithelioid cells.
• Choroidal nevus
• Rare associated karyotypic abnormalities
• Choroidal metastasis
have been reported, most commonly altera-
tions of chromosome 3. • Combined hamartoma of the retina and
RPE
HISTORY • Congenital hypertrophy of the RPE
(CHRPE)
• The malignancy is usually asymptomatic • Circumscribed choroidal hemangioma,
and painless. reactive hyperplasia ofthe RPE
• Visual effects include blurred vision, • Bilateral diffuse uveal melanocytic
floaters, photopsia, and visual field proliferation
defects. • Choroidal osteoma
DIAGNOSTIC EVALUATION • Higher risk for metastasis and mortality

appears to be associated with specific patterns
• Diagnosis is based on ophthalmoscopic of gene expression, which can be determined
features. Ultrasonography reveals an acousti- through analysis of tumor tissue.
cally hollow, dome-shaped or mushroom-
shaped mass with low internal reflectivity.
Ultrasonographic measurements of tumor MANAGEMENT
thickness are valuable in determination of
doses for radiotherapy, as well as for serial Ocular
evaluation following treatment. • The primary goal of treatment of choroidal
• Fluorescein angiography of small choroi- melanoma is prevention of metastasis. Choice
dal tumors shows early mottled hyperfluores- of specific modality depends on tumor size,
cence of the tumor with progressive staining location, and the patient's systemic and psy-
in the late phases. Large tumors display filling chological status.
oflarge intrinsic vessels in the venous phase, • Enucleation remains the standard treat-
with diffuse late staining. ment for large melanomas (greater than
12mminLTD and 8 mm in thickness).
PROGNOSIS Other options for smaller tumors include
transpupillary thermotherapy (TTT),
• Overall, 5-year survival for patients with radiotherapy (plaque brachytherapy or
choroidal melanoma is about 80%. Median proton-beam irradiation), and local resection
survival is about 7 years. Prognosis for sur- (reserved for anterior lesions). Observation
vival depends on a variety of factors, includ- is appropriate for small tumors with little
ing age at diagnosis, intraocular location, evidence of growth.
extent of metastasis, tumor size, and tumor • Patients should be evaluated regularly
cell type. 'Ihe 5-year mortality for patients with careful funduscopy, serial fundus photo-
with epithelioid melanomas is 42%; for those graphs, and ultrasonography.
with spindle cell tumors, 10%. The 5-year Systemic
mortality for patients with tumors with larg-
• The vast majority (-98%) of patients have
est basal tumor diameter (LTD) greater than
no discernible metastasis at the time of diag-
15 mm is nearly 50%; for those with LTD less
nosis of their choroidal melanoma.
than 10 mm, under 20%.
• Baseline systemic evaluation should be per-
• Risk factors for metastasis include docu-
formed in every patient, under the direction
mented growth, proximity to the optic disc,
of a medical oncologist. Assessment typically
and greater tumor thickness. Nearly one-half
includes complete blood count, liver enzyme
of the patients with metastatic choroidal
panel, chest roentgenogram, and imaging (i.e.,
melanoma die within 1 year of treatment.
CT or ultrasound) ofthe abdomen.
There appears to be no difference in mortality
in patients treated initially with enucleation • Measurement of liver enzymes
when compared with those treated with should be performed regularly along
iodine-125 plaque radiotherapy. with ophthalmoscopy.
Choroidal Melanoma 2 61
PIGUllB 6-10. Chorolclal melanoma. A. A large, elevated, pigmented choroidal maa IU1TO\Ulding the temporal
upect of the optic: di1c i1 appreciated with averlying orange pigment. 'lhe primary goal of treatment of choroidal
melanoma ii prevention ofsystemic: metastases. B. A large, elevated, pigmented choroidal mau with subretinal
fluid and orange pigment. Orange pigment may represent macrophage ingution oflipofusdn pigment and reflect
tumor activity. Courtesy ofDn. Jerry and Carol Shielda, Oncology Service, Willa Eye Hospital, Philadelphia,
PennBylvania.
26 2 6 RETINAL AND CHORO IDAL TUMORS
ASSOCIATED
CHOROIDAL
CLINICAL SIGNS
MELANOCYTOMA
• 'Ihe uninvolved area ofthe optic disc may
horoidal melanocytoma is a benign,
C minimally progressive, deeply pig-
mented tumor occurring at or around the
become acutely edematous with an associated
decline in vision.
optic nerve. It is probably a variant of choroi- • Rarely, neovascular glaucoma secondary to
d.al nevus. vascular obstruction may occur.
• Blacks and whites are affected equally. • Juxtapapillary choroidal melanoma

Malignant melanomas, by contrast, occur • Choroidal nevus
much less frequently in black patients. • Hyperplasia ofthe RPE
• Combined hamartoma ofthe retina and
HISTORY RPE
• Patients are usually asymptomatic.

• Visual loss may occur in rare instances
of tumor growth or retinal vascular • Diagnosis is based on characteristic oph-
obstruction. thalmoscopic features.
• No inheritance pattern has been • Regular examinations and serial fundus
recognized. photographs are essential for documentation
ofgrowth or malignant transformation.
IMPORTANT
MANAGEMENT
• Characteristically, this charcoal gray or
gray-black tumor is located on or adjacent • 'Ihe patient is followed by observation.
to the optic disc, with both a deep choroidal
component and superficial extension into the • Roughly 1596 ofmelanocytomas exhibit
nerve fiber layer {Fig. 6-11). small degrees of enlargement. However,
malignant transformation is possible and is
• It is usually unilateral. often heralded by more rapid growth and
• A relative afferent papillary defect (RAPD) visual changes. In such cases, enucleation of
may be seen in up to 30% ofcases. the affected eye should be considered.
ChoroidalMelanocytoma 2 6 3
FIGURB 6-11. Choroidal melanocytoma. Note the cWk. brown laion imohing the optic disc. 'Ihere are
feathery edges to the lesion. A small percentage (-1596) of melanoc:ytomu will demonstrate •ome growth;
malignant tnmformation t. rare but bu been reported. Courtesy ofDn. Jerry and Carol Shields, Oncology
Service, Wills .Bye Hospital, Philadelphia, Pennsylvania.
HISTORY
CHOROIDAL METASTASIS
• Blurred vision (usually painless) is
~oroidal metastasis is
C
the most common
reported in 8096 of patients. Floaters and
mtraocular malignancy, visible ophthal-
visual field defects are other symptoms,
moscopically in up to 196 of patients with
along with eye pain ( 596 to 15%). A history
systemic malignancy (most commonly aris-
of malignancy is noted in 6596 to 75% of
ing from the lungs or breasts). Clinically it is
patients.
apparent as an amelanotic, shallow, round or
oval choroidal mass posterior to the equator.
Choroidal metastasis is usually unilateral but IMPORTANT
may be multifocal and bilateral. It is the pre- CLINICAL SIGNS
senting sign of metastatic malignancy in up to
one-third of the patients. • The tumor appears as a round or oval,
placoid, minimally elevated choroidal mass
EPIDEMIOLOGY that is variable in color. It is unifocal and
unilateral in roughly two-thirds ofthe cases.
AND ETIOLOGY
Metastases from breast and lung are typically
pale yellow, whereas those from cutaneous
• There is a cumulative lifetime incidence of
melanoma are dark gray or brown
1 in 400 to 1 in 1000 Americans.
(Fig. 6-12). Other tumors with character-
• At autopsy, microscopic intraocular istic coloration include metastatic renal cell
lesions are detectable in 596 to 1096 of and thyroid carcinoma (typically orange-red)
patients with systemic malignancy; of and metastatic carcinoid tumors (typically
these, I 096 have clinically apparent lesions. pink or yellow~orange).
The increasing incidence is likely attribut-
• Typically the tumor is located posterior to
able to increased survival of patients with
the equator (greater than 90%); it is predomi-
cancer, improved detection, and greater
nantly macular in roughly 1096.
awareness.
• Tumor growth may result in disc edema
• 'The most common primary malignancy
and serous retinal detachment.
is breast carcinoma in women and lung car-
cinoma in men. In patients with no known
primary site at the time ofdiagnosis, sys- ASSOCIATED
temic evaluation leads to diagnosis oflung
CLINICAL SIGNS
carcinoma in one-third ofthe patients and
breast carcinoma in one-tenth ofthe patients.
• Conjunctival injection
Known primary sites other than breasts
and lungs comprise less than 1096 of cases • Hyperopic shift
with choroidal metastasis. In one-half of • Neovascular glaucoma
the patients, however, a primary site is not
discovered.
• Tumors are overwhelmingly carcinomas, DIFFERENTIAL DIAGNOSIS
rarely sarcomas. Spread is hematogenous.
Cytologic findings are consistent with the • Amelanotic choroidal melanoma
tumor of origin. • Circumscribed choroidal hemangioma
Choroidal Metastasis 26 S
• Retinal astrocytoma blindness and secondary angle-closure

• Choroidal osteoma glaucoma.
• Intraocular lymphoma • Optic disc edema causes profound and

often irreversible visual loss. Factors related to
• Sclerochoroidal calcification
the preservation of vision and eye structures
• Central serous chorioretinopathy include number and size of tumors, proximity
• Choroidal granuloma to the optic nerve and fovea, and responsive-
• Posterior scleritis ness to therapy.
• Vitelliform dystrophy • Survival is related to effective treatment

and remission of systemic disease. Patients
with choroidal metastasis from breast car-
DIAGNOSTIC EVALUATION cinoma tend to survive longer than patients
with choroidal metastases from other sites.
• Fluorescein angiography of carcinoma
metastatic to the choroid shows early hypo-
fluorescence of the lesion with a relative MANAGEMENT
paucity of intrinsic vessels, and diffuse hyper-
fluorescence of the tumor in the late phases • Ocular: Choroidal metastases are most
of the study. Indocyanine green angiography often treated with external-beam radiother-
may demonstrate additional, smaller choroi- apy, chemotherapy, hormonal therapy, or a
dal tumors. combination. Single, smaller tumors may be
• Ultrasonography is most helpful for treated effectively with plaque radiotherapy.
elevated tumors; they appear hyperechoic • Systemic: Patients with systemic disease
(bright) with high internal reflectivity. Fine- should be referred to a medical oncologist.
needle aspiration biopsy may be helpful, espe- Management ofpatients with a known pri-
cially in patients with no known malignancy. mary extraocular malignancy requires a stag-
ing evaluation appropriate for the primary
PROGNOSIS tumor. Patients with no known primary site
at time of diagnosis are evaluated with a thor-
• Most metastatic tumors are relentlessly ough physical examination (with attention to
progressive and tend to grow faster than pri- breasts and lymph nodes), mammography,
mary choroidal malignancies. If untreated, chest roentgenogram, CT of the chest, abdo-
bullous retinal detachment can lead to men, and pelvis, and bone and PET scans.
FIGUBB 6-12. Chorolcld metuta.U. A. Metastatic lung cancer presents as an amelanotic choroidal lesion
( atTOW) superior to the optic diac. Most choroidal metastases occur poaterlor to the equator. 'Jhey may be
unifocal or multifocal. (Courtesy of Dr&. Jerry and Carol Shields, Oncology Service, Wills .Bye Hospital,
Philadelphia, Pennsylvania.) B. Choroldal metutuil to UU. Metastatic breut wicer preaentl initially to the
patient u an am.elanotic iria mass.
Choroidal Hernangioma 2 67
Serous retinal detachment in two-thirds

CHOROIDAL of the cases
HEMANGIOMA Overlying RPE metaplasia or retinos-
chisis (Fig. 6-13)
horoidal hemangioma is a benign vu-
C cular tumor that occurs in two forms:
circumscribed (discrete) and diffuse. 'Ihe cir-
• Diffuse type
Bright red color involving a large sec-
cumscribed variant is a well-defined, orange- tion (more than 5096) ofthe fundus
red, dome-shaped mass, usually occurring Tortuosity ofoverlying retinal vessels
in the posterior fundus and diagnosed by
Shifting subretinal fluid
the fourth decade of life. The diffuse variant
is characteristically associated with Sturge- • Manifestations of Sturge-Weber syn-
Weber syndrome (encephalotrigeminal angio- drome include facial nevus flammeus ( 10096
matosis) and is diagnosed at a younger age. It ofpatients), cerebral abnormalities, and intra-
gives a markedly asymmetric, bright red re.flex cranial calcifications. Asymmetric cupping of
to the fundus of the involved eye. the optic nerve (due to congenital glaucoma)
occurs, particularly in cases of nevus B.am-
meus involving the ipsilateral upper eyelid.
EPIDEMIOLOGY
ASSOCIATED
• Circumscribed type: Sporadic:, usually
CLINICAL SIGNS
diagnosed in third or fourth decade. May be
worsened by pregnancy. Usually unilateral.
• Cboroidal neovascularization (circum-
• Diffuse type: Diagnosed in childhood. scribed type)
Occurs in roughly one-third ofthe patients
• Retinitis pigmentosa-1.ike changes (diffuse
with Sturge-Weber syndrome. Usually unilat-
type)
eral and ipsilateral to the characteristic facial
hemangioma (nevus flammeus, or "port-wine DIFFERENTIAL DIAGNOSIS
stain"), but may be bilateral and associated
with bilateral facial hemangiomas. • Central serous retinopathy
HISTORY • Choroidal metastasis
• Patients may be asymptomatic. • Choroidal inflammation
• VlSUal impairment is usually painless and

results from hyperopic shift (in cases of sub-
macular tumor) or subretinal fluid.
• Fluorescein angiography and indocyanine
green angiography reveal early hyperB.uores-
IMPORTANT cence corresponding to filling of choroidal
CLINICAL SIGNS vessels feeding the tumor.
• B-scan ultrasonography demonstrates a
• Circumscribed type dome-shaped elevation in the case of a cir-
Discrete, slightly elevated, orang<rred cumscribed hemang:ioma and marked choroi-
mass arising in the posterior choroid dal. thickening in cases ofdiffuse tumors.
PROGNOSIS AND • Treatment consists of radiation therapy

MANAGEMENT (external-beam, cobalt-60 brachytherapy,
or proton-beam irradiation). Delimiting
• Management consists of observation as laser photocoagulation, external drainage,
long as the patients are asymptomatic. In or scleral budding is indicated for retinal
cases of macular involvement or extensive detachment.
retinal detachment, visual impairment is
inevitable, and treatment is indicated.
FIGUllB 6-13. Choroldal. hemagioma, clrcuaucribed type. A macular choroidal hemangioma demomtrates
1Ubmacular fluid and overlying retinal pigment epithelial metapluia ( amiw ) . 'Ihl.1 le.ion i1 often confuted with
central 1eroW1 retinopathy. Courtuy of Dn. Jerry and Carol Shield., Oncology Service, Willa Eye Hoipital,
Philadelphia, Pennsylvania.
ID1:raocular ~phoma 26 9
IMPORTANT
INTRAOCULAR
CLINICAL SIGNS
LYMPHOMA
• Vitreous inflammation
ntraocular lymphoma is a malignant, indo-
I lent, often bilateral, lymphocytic prolifera-
tion with diffuse infiltration of the posterior
• Multiple, yellow-white lesions deep to the
retina that progressively enlarge and coalesce
segment that occurs in two forms: ( 1) arising • Overlying pigmentary alterations
primarily from the eye or CNS; or (2) sys-
temic, usually 'Visceral, lymphoma, metastatic
ASSOCIATED
to the uvea. Most often it affects older patients
and is associated with CNS lymphoma.
CLINICAL SIGNS
lntraocular lymphoma was formerly termed
reticulum cell sarcoma. • Anterior uveitis
• Retinal vasculitis, leading to vascular
EPIDEMIOLOGY obstruction (Fig. 6-14)
AND ETIOLOGY • Optic disc edema
• Usually intraocular lymphoma affects

immunocompetent patients in their sixth to DIFFERENTIAL DIAGNOSIS
seventh decade. It is bilateral in up to 90%
• Vi.tritis
ofcases. A more aggressive form is seen in
patients who are severely immunocompro- Amyloidosis
mised, most commonly from the acquired Old vitreous hemorrhage
immunodeficiency syndrome (AIDS).
Senile vitritis
• Intraocular lymphoma is the presenting • Retinal infiltrates and vasculitis
sign ofCNS lymphoma in 8096 of patients,
but may precede CNS involvement by up to Toxoplasmosis
10 years (mean of 2 years). The incidence • Cytomegalovirus retinitis
appears to be increasing, possibly as a result Acute retinal necrosis
ofmore widespread immunosuppression or
Sarcoidosis
improved diagnosis.
• Subretinal infiltrates
• Most often the lymphoma is a large-cell B
lymphocytic (i.e., non-Hodgkin) tumor. It is Multifocal choroiditis
thought to arise from cells ofthe retina, RPE, Acute posterior multifocal placoid
brain, meninges, and spinal cord. pigment epitheliopathy
• Multiple evanescent white dot syndrome
HISTORY Fundus flavimaculatus
Choroidal granuloma
• Patients have a history offloaters and pain-
less visual loss. Amelanotic choroidal melanoma
• Chronic, unremitting vitritis that is unre- Choroidal metastasis
sponsive to corticosteroids occurs, along with Bilateral diffuse uveal melanocytic
neurologic impairment. proliferation
DIAGNOSTIC EVALUATION neuroimaging (thin-section magnetic reso-

nance imaging), lumbar puncture, and bone
• In the absence of lcnown CNS disease, marrow biopsy.
vitreous biopsy (through either fine-needle • Untreated, most patients die within a
aspiration or pars plana vitrectomy) has the few years of diagnosis. Patients with disease
greatest diagnostic yield. Multiple vitreous limited to the eye may be treated with
specimens may be needed. extern.al-beam irradiation only. Adjunct
chemotherapy and corticosteroids pro-
PROGNOSIS AND long survival to a median of41 months
MANAGEMENT (with 2296 disease-free at S years), but do
not decrease the risk of subsequent CNS
• All patients with intraocular lymphoma involvement.
should be evaluated for CNS and systemic • Ocular relapse, especially within the first
involvement, by neurologic examination, year after treatment, is common.
PIGUll.B (S.14. mtraoealar lJJDPhoma. Hazy photograph demomtratingvitrltia and intraretinal invuion of
lymphoma with aaodated hemonhagic retinal vasculit:is. Courtesy of Drs. Jerry and Carol Shields, Oncology
Service, Wills .Rye Hospital, Philadelphia, Pennsylvania..
Choroidal Osteoma 2 71
CHOROIDAL OSTEOMA
C horoidal osteoma is a rare, benign cho-
roidal tumor composed of mature bone,
occurring most couunonly in the posterior
• Carcinoma metastatic to the choroid
• Circumscribed choroidal hemangioma
pole of one eye ofhealthy young women. • Disciform scar ofage-related macular
degeneration
EPIDEMIOLOGY • Idiopathic sclerochoroidal calcification
AND ETIOLOGY
• The tumor most often affects women
younger than 30 years ofage. • Diagnosis is based on typical ophthal-
• It is unilateral in 7596 ofcases and usually moscopic features. Fluorescein angiography
sporadic, but rare familial cases have been reveals early mottled hyperfluorescence and
reported.. late di1fuse staining. Leakage from associ-
ated choroidal neovascularization may be
seen.
HISTORY
• B-scan ultrasonography demonstrates a
• Patients are usually asymptomatic. mildly elevated, highly reflective choroidal
mass with acoustic shadowing.
• Diminished visual acuity or metamor-
phopsia are caused by macular involvement • CT reveals focal hyperintensity similar to
by the tumor or by associated choroidal bone in the affected choroid
neovascularization.
PROGNOSIS AND
CLINICAL SIGNS
• Prognosis is variable. Visual loss may
• The tumor is most often adjacent to, or result from degeneration ofthe overlying
surrounding, the optic disc. It appears pale RPB, choroidal neovascularization, or retinal
yellow to orange in color and is minimally detachment.
elevated (usually less than 2 mm in thick- • Management consists of observation
ness). Overlying clumping ofbrown, gray, and, as appropriate, treatment of choroidal
or orange pigment may be noted (Fig. 6-IS). neovascularization.
ASSOCIATED
CLINICAL SIGNS
• Choroidal neovascularization
• Serous retinal detachment
FIGUJlB 6-15. Choroidal. olteoma. Peripapiilary choroidal osteoma ii yellow-white in color and there are
1ome overlying areu of clumping of brown pigment. B-1can ultruonography of dioroidal osteoma 1how1
a highly re:flective choroidal mua with acoustic shadowing behind the Inion; thia It due to intrlnaic bone.
Courtesy ofDrs. Jerry and Carol Shields, Oncology Service, Wills Bye Hospibl, Philadelphia, Pennsylvania.
CHAPTER
7
Congenital and
Pediatric Retinal Diseases
Nikolas ].S. London and Rkhard S. Kaiser •
ofthe retina. Continued growth and contrac-

RBTINOPATHY OF
tion offibrovascular tissue maylead to retinal
P REMATURITY detachment.
R etinopathy of prematurity (ROP) is a

proliferative retinopathy of premature,
low-birth-weight infants.
HISTORY
• The critical components ofthe history are

the birth weight, the gestational age at birth,
EPIDEMIOLOGY the current postmenstrual age, and the cwrent
AND ETIOLOGY chronological age. One should also inquire
regarding the use ofmechanical ventilation and/
• Despite recent advances, ROP remains a or supplemental oxygen, the length ofstay in the
leading cause ofvisual loss in children. Infunts neonatal ICU, blood transfusions, the presence
born at less than 30 weeb gestation and/ ofanybronchodysplasia or hyaline membrane
or those with a birth weight of 1500 g or less disease. Pregnancy history, maternal health, and
should be examined by indirect ophthalmos- funi1y history are also often obtained.
copy. Inf.mts who are born weighing 1000 g or
less are at particularly high risk ofdeveloping DIAGNOSTIC EVALUATION
severeROP.
• The retinal vasculature ofinfants born • Careful examination ofneonates with
prematurely has not completed its growth to indirect ophthalmoscopy in the intensive care
the ora serrata. The developing vasculatare is nursery or at discharge is essential to detect
susceptible to capillary endothelial cytotax- ROP at a stage where treatment can be applied.
icity. Pre-e:rlstingvessels are damaged and • Examinations should start at 31 weeks
neovascularization develops offthe surface postmenstrual age or by 4 weeks chronological
273
274 7 CONGENITAL AND PEDIATRIC RETINAL DISEASES
age, based on gestational age, and should TABLE 7-1. International Classification
continue every 1to3 weeks, until one of the of Retinopathy of Prematurity {!CROP)
following occurs:
Location
There is vascularization of zone III
Zone I Posterior circle ofretina centered
without prior zone I or II disease.
on the optic nerve with a radius of
Postmenstrual age 45 weeks is achieved twice the disc-fovea distance
with no prethreshold ROP. Zone II Circular area ofretina &om the
The retina is completely vascularized. edge ofzone I to the nasal ora
serrata
There is total regression of treated ROP.
Zone III Remaining temporal crescent of
retina
IMPORTANT Extent
CLINICAL SIGNS Number ofclock hours or 30-degree sectors involved
Severity
• The posterior segment signs of ROP fol-
low a progression of increasing severity that Stage 1 Demarcation line between
posterior vascularized retina and
were classified according to the International
anterior avascular retina
Classification of ROP (ICROP).
Stage2 Demarcation line with height,
• First the location of the disease is deter- width, and volume (ridge)
mined, then the stage of severity, and finally
Stage 3 Ridge with extraretinal
the extent of that stage is noted (Table 7-1,
fibrovascular proliferation
Figs. 7-1to7-S). (ERFP); may be mild, moderate,
or severe
ASSOCIATED Stage4 Subtotal retinal detachment
CLINICAL SIGNS 4A Extrafoveal
4B Involving the fovea
• "Plus" disease denotes increased severity. Stage 5 Total retinal detachment; always
When an eye has dilation and tortuosity of funnel-shaped
the retinal vessels in the posterior pole, then Open anteriorly; open posteriorly
it is said to have plus disease and has a poorer
Open anteriorly; narrow
prognosis (Fig. 7-6). When vascularization is
posteriorly
only present in zone I and there is plus disease,
Narrow anteriorly; open
then a very poor prognosis exists because of
posteriorly
the risk of rapid progression ("rush" disease).
Narrow anteriorly; narrow
• "Threshold" disease is a level of ROP
posteriorly
at which it is predicted that there is a 50%
chance of progression to retinal detach-
ment without treatment. It was defined
in the CRYO-ROP study as 5 contiguous is reached, treatment is recommended. In
clock hours of extraretinal fibrovascular addition, current guidelines indicate treat-
proliferation (ERFP) with plus disease or 8 ment within 72 hours for the following clini-
accumulated dock hours of ERFP with plus cal situations:
disease (Fig. 7-7). When threshold disease Zone I, any stage, with plus disease
Retinopathy ofPrematurity 2 7 S
Zone I, stage III, with or without plus • Differential diagnosis depends on the
disease stage of the disease. In less severe RO P,
Zone II, stage II or III, with plus conditions that cause peripheral retinal vas-
disease cular changes and retinal dragging should be
considered.
• Occasionally neovascular tissue may form
buds of vascular proliferation behind the Familial exudative vitreoretinopathy
ridge or demarcation line. These lesions are (FEVR)
called "popcorn" because of their similar- Incontinentia pigmenti (Bloch-
ity to popped corn (see Fig. 7-3A). These Sulzberger syndrome)
lesions do not carry any prognostic signifi- X-link.ed retinoschisis
cance unless they are a part of ERFP at the
Norrie's disease
advancing border of vascularization. Vitreous
hemorrhage and preretinal hemorrhage can • In advanced cicatricial ROP, the differen-
occasionally be seen in eyes with severe tial diagnosis is that of retinal detachment or a
ERFP. white pupillary reflex, or both.
• In early cicatricial RO P (after resolution Cataract
of the acute phase) there may be a variety of FEVR
tractional complications. A hallmark finding Persistent fetal vasculature (PFV)
of regressed cicatricial ROP is temporal reti-
Ocular toxocariasis
nal dragging (Fig. 7-8 ).
Intermediate uveitis
• After regression of ROP, either spontane-
ously or with treatment, several associated Coats' disease
abnormalities may occur. Retinoblastoma
Myopia Vitreous hemorrhage
Astigmatism Retinal detachment
Strabismus Endophthalmitis
Amblyopia
Cataract PROGNOSIS AND
Glaucoma MANAGEMENT
Macular ectopia
• The majority of infants who develop
Retinal fold
ROP undergo spontaneous regression ( 8596).
Retinal detachment-rhegmatogenous However, 796 of infants weighing less than
or exudative 1251 g at birth will develop threshold RO P.
• Cryotherapy to the anterior avascular zone
DIFFERENTIAL DIAGNOSIS (Fig. 7-9) has been shown to reduce the likeli-
hood of an unfavorable outcome (retinal fold
• The clinical setting usually aids in the diag- through zone I, retinal detachment, or retro-
nosis ofROP. Infants are born prematurely lental fibroplasia) by 5096 in the cryotherapy
and are oflow birth weight with a history of for ROP Study. Visual results are commensu-
oxygen exposure. rately improved.
276 7 CONGENITAL AND PEDIATRI C RETINAL DISEASES
• Laser photocoagulation delivered with an early reports of success. Bevacizumab

indirect ophthalmoscope to the anterior avascu- eliminates the angiogenic threat ofROP
lar zone has virtually replaced ayotherapy for is a randomized trial comparing intravit-
thresholdROP (Fig. 7-10).Laserburnsshould real bevacizumab to conventional laser
be spaced evenly, approximately one-halfbum treatment.
width apart, with particular attention to the most • More advanced stages of ROP (stages
posterior avascular retina. Better visual outcomes 4 and 5 retinal detachment) can be treated
have been achieved with laser treatment with scleral buckling or vitrectomy, or both.
• Antiangiogenic injection therapy 1he prognosis for visual recovery after retinal
for ROP is being investigated, with detachment remains poor.
Retinopathy of'Pftmaturitr 2 7 7
~
9
u 3
6 6
PlGURB 7-1. B.etiaopathy ofprematurity (R.OP). Schematic diagram of division of fundus Into zones for
defining location of involvement with ROP.
/
PlGURB 7-2. ll.OP, stqe 2. 'Ihe demarcation line (arrow) between poatetlor "9'UCU1arized and anterior
a'll'Ucular retina ia elevated u a ridge.
FIGUBB 7·3. ROP, stage 3. A. 'Ihe ridge has 6brovascular tissue and is elevated off the surface of the retina
(emaretinal fi.brovaacular proliferation, or BRFP). 'Ibis is an eumple ofsevere stage 3 ROP. Buds ofvucular
proliferation behind the ridge are "popcorn• lesions (arrow). B. FluoresceiD angiogram &om same patient as in
A showing intense hyperfluore1UDce from vascular proliferative tissue in region of ridge.
PIGURB 7-4. llOP, .tap 5. Eye with •hallow total retinal detachment. Noh! loN of choroidal detail due to
ahall.ow aubretinal iluid accumulation Jn posterior pole.
PIGUllB 7-S. B.OP, .tap 5. 'Ibis eye has a total tractional retinal detachment due to severe fibrous proli!eration
with c:ontra.c:tion of the fibrous ti11ue. Note the vuc:ularized tissue behind the clear lens.
F.IGUU 7-6. B.OP, plaa dUeue. Dilation and tortuoaity of veueh in the posterior pole denotu progreuive
disease and is known u •p1us· diseue.
9 3
PIGUllB 7-7. llOP, threshold cliHue. Schematic diagram of threshold diseue according to the Cryotherapy
for R.etinopathy of Prematurity Study Group. Reprinted by permialion of American Medical .Aasodation &om
Cryotherapy for Retinopathy of Prematurity Cooperative Group. Multicenter trial of cryotherapy of retinopathy
of prematurity: Preltmlnaryresults. .Ards Ophthalmol 1988;106:474.
Retinopathy of'Pftmaturitr 2 81
FIGURB 7-1. Jl.OP. Severe dragging of the temporal retina with T.UcWar ltraigbtening {arrow) ill a late
cicatricial complic:ation ofROP. Compare with familial emdative vitreoretinopathy, in Fipre 7-18A.
FIGtnlB 7-9. ROP1 cryoth.eftpy. A. 'Ih.e arrow points to the anterior 11VUc:ular zone where cryotherapy will
be placed for thrahold ROP. B. Late postoperative appearance ofcryotherapy. Note regrealion of emaretinal
6.bnmucular proliferation.
PIGUllB 7·10. ROP. A. Preoperative appearance of an eye with posterior threshold ROP. B. Late postoperative
appearance after luer photocoagulation. Note regression of emaretina1 fibrovucular proliferation.
• The ocular abnormalities are often

extremely asymmetric.
PIGMENT!
ncontinentia pigmenti, or Bloch- ASSOCIATED

I Sulzberger syndrome, is a rare X-Jinked
dominant condition that includes ocular, skin,
CLINICAL SIGNS
central nervous system, skeletal, dental, and • Other ocular findings include cataract,
other systemic abnormalities. conjunctiva! pigmentation, and strabismus.
Skin findings, for which the disease is named,
EPIDEMIOLOGY include vesicular skin eruptions (Fig. 7-13)
AND ETIOLOGY that later tum into depigmented lesions
(Fig. 7-14). 'Ihese changes start days after
• The pathogenesis of incontinentia pigmenti birth.
is unknown. It is an X-linked dominant condi- • Dental abnormalities consisting of miss-
tion that is usually lethal in males and thus ing or cone-shaped teeth are present in
usually only seen in female infants. However, approximately two-thirds of affected individ-
an affected male with Klinefelter syndrome uals (Fig. 7-15). Associated central nervous
(XXY) or a genetic mosaicism may survive. system abnormalities include seizures, spas-
tic paralysis, and mental retardation.
HISTORY
• Characteristic skin changes usually start DIFFERENTIAL DIAGNOSIS

days after birth, with ophthalmic findings
developing in infancy or even later in life. • As for early stages ofROP:
FEVR
IMPORTANT • lncontinentia pigmenti (Bloch-
CLINICAL SIGNS Sulzberger syndrome)
• X-linked retinoschisis
• Approximately one-third of infants with • Norrie's disease
incontinentia pigmenti have ocular findings. • H retinal detachment is a presenting find-
Fundus abnormalities include dilated, tortu- ing, other causes of infantile retinal detach~
ous retinal vessels, peripheral retinal capillary ment should be considered.
nonperfusion with arteriovenous anastomo-
ses and neovascularization (Flga. 7-11 and
7-12), foveal hypoplasia, branch artery occlu- DIAGNOSTIC EVALUATION
sions, neovascularization of the disc, retinal
dragging, tractional and rhegmatogenous • Clinical evaluation including examination
retinal detachments, retinal folds, vitreous ofthe skin may lead to a diagnosis ofinconti-
hemorrhage, and optic disc pallor. nentia pigmenti
lncontinentia Pigmenti 28 S
PROGNOSIS AND photocoagulation or cryotherapy. Intravitreal

MANAGEMENT anti-VEGF agents have been used with lim-
ited success.
• Most patients with incontinentia pigmenti. • Retinal detachments may be repaired with
require no treatment. scleral buckling or vitrectomy, or both.
• Progressive peripheral retinal neo-
vascularization may respond to laser
FIGUIU! 7·11. hu:ontinentia pigmenti. Peripheral fundus of a patient with incontinentia pigmenti showing
peripheral retinal capillary nonperfusion and arteriovenow anastomoses (anow).
FIGURB 7-12. Iacootinentia pigmenti. Fluoresceio. angiogram. of the peripheral fun.dua of a patient with
incontinenti& pigmenti 1howing peripheral retinal capillary nonperfuaion and arterionnout mutomoaet ( am>w}.
FIGUBB 7-13. Inc:ontlneatia plgmentl, dermatologic: fincllnp. Velic:ul.ar skin lesi.om in an inf.ant with
incontinentia pigmenti.
lncontinentia Pigmenti 287
FIGlJRB 7-14. hu:ontinmtia pigmenti, dermatologic findlnp. Pigmentary alteration of the skin in a patient
with reaolved veaicular eruption• of incontinentia pigmenti.
FIGUJlB 7·15. In.c:ontinentia plgmenti, dental filutinp. Dental x-ray of cone-shaped tooth in a patient with
incontinentia pigmenti.
Familial Emdatm Vrtreoretinopathy l 8 9
• Progression to more severe changes

FAMILIAL EXUDATIVE
such as tractional, exudative, and even rheg-
VITREORETINOPATHY matogenous retinal detachment may occur
{Fig. 7-19). Intraretinal and subretinal lipid
• FEVR is a group of autosomal- exudation may sometimes occur.
dominant fundus disorders characterized
• The findings are often asymmetric.
by peripheral retinal nonperfusion and
neovascularization.
ASSOCIATED
EPIDEMIOLOGY CLINICAL SIGNS
AND ETIOLOGY
• In severe cases with retinal detachment,
• The exact etiology ofFEVR is unknown. It there may be cataract, band keratopathy, neo-
vascular glaucoma, phthisis, or a combination
is an autosomal-dominant hereditary disorder
(rare cases ofX-linked inheritance have been ofthese findings.
reported) that is asymptomatic in 5096 of
cases. DIFFERENTIAL DIAGNOSIS
HISTORY • As for early stages ofROP:

FEVR
• Infants born with FEVR are otherwise Incontinentia pigmenti (Bloch-
healthy. '!he.re is usually no history of pre- Sulzberger syndrome)
maturity, oxygen exposure, or respiratory
X-linked retinoschisis
difficulties.
Norrie's disease
• 'Ihe clinical features vary consider-
ably and, although bilateral, there is often • H retinal detachment is a presenting find-
asymmetry. ing, other causes of infantile retinal detach~
ment should be considered.
• Infants may present with strabismus or a
white pupillary reflex if the findings are severe.
However, symptoms of decreased vision may DIAGNOSTIC EVALUATION
occur at any age.
• Typical fundus findings are noted on
ophthalmoscopy.
IMPORTANT
• H FEVR is suspected, examination ofthe
CLINICAL SIGNS peripheral retina of asymptomatic family
members may reveal findings consistent with
• The classic finding in FEVR is peripheral
the diagnosis.
retinal capillary nonperfusion (Fig. 7-16).
Peripheral neovascularization may form at the
border ofposteriorvascularized and anterior PROGNOSIS AND
avascular retina (Fig. 7-17). Retinal dragging MANAGEMENT
from contraction of 6.brovascular tissue may
occur (Fig. 7~18). Vitreous hemorrhage rarely • Patients who are affected at a young age
occurs. usually have more severe pathology. Laser
photo coagulation or cryotherapy to the • All family members of an affected individ-

peripheral avascular retina may prevent pro- ual should be examined, because progressive
gression of fibrovascular complications. changes may occur throughout life.
• Scleral buckling and vitrectomy surgery
have been attempted for more severe cases
with retinal detachment.
FIGVRB 7·16. FamlliU DDda~ 'ril:reoretinopath.y (FEVR). Peripheral retinal capillary nonperfmion
(amJW) in FHVR. appears &atureleu.
Familial Emdative Vl.tmlretinopathy- 2 91
PIGUllB 7·17. PltVR. A. Clinkal photograph showing peripheral retinal capillary nonperfusion with
some intraretinal lipid emdat.e (arrow). B. Corresponding:lluorescein aogiogram documenting peripheral
nonperfusi.on and areu of ne0V1Uc:ularization.
FIGUBB 7·18. F.EVR. A. Temporal dragging of the retina with vascular straightening (arruw). Compare with
ROP, Pipre 7·1. B. Temporal periphery with int:raretlnal lipid, peripheral retinal capillary nonperfosion, and
peripheral neDftllc:ularization ( MnJW).
Familial Emdative Vl.tmlretinopathy- 2 9 3
FIGURB 7-19. DVIL Severe tractional retinal detachment with dragging.

abnormalities. These can occur on the retinal

arterial or venous sides, or both.
oats' disease is a unilateral, idiopathic ret- • Marked hard exudation is frequently pres-
C inal vascular abnormality first described
by George Coats in 1908. It is characterized
ent, extending from the retina into the sub-
retinal space when it is massive.
by telangiectatic retinal vascular abnormali-
ties in association with lipid exudation. Coats' IMPORTANT
disease should be differentiated from a Coats' CLINICAL SIGNS
response, or a large degree of lipid exudation,
which can occur with abnormalities such as • Telangiectatic vessels, venous dilation,
retinitis pigmentosa, diabetic retinopath}J reti- microaneurysms, and fusiform capillary dila-
nal venous obstruction, retinal capillary hem- tion are the hallmark findings of Coats' dis-
angioma, and the late sequelae ofROP. ease (Fig. 7-22).
• Progressive exudation from these retinal
EPIDEMIOLOGY vascular abnormalities may lead to exudative
AND ETIOLOGY retinal detachment.
• Coats' disease is idiopathic. Most cases are ASSOCIATED

diagnosed before age 20 with the peak inci-
CLINICAL SIGNS
dence at the end of the first decade.
• It occurs predominately in males ( 8596) • Posterior segment neovascularization is
and is almost always uniocular. rare even though retinal capillary nonperfa-
• The severity ofthe disease varies widely sion is often present. Retinal telangiectasis
from asymptomatic patches oftelangiectatic has been reported in association with many
vessels in the retinal periphery (Fig. 7·20) other ocular and systemic diseases. Retinitis
to total exudative retinal detachment pigmentosa with a •coats'-like response" has
(Fig. 7-21). been documented.
• Other entities associated with retinal tel-
HISTORY angiectasia are Alport's syndrome, tuberous
sclerosis, Turner's syndrome, Senior-Loken
• Infants may present with strabismus, leu- syndrome, the ichthyosis hystrix variant
kokoria, or a red, painful eye (from neovascu- of epidermal nevus syndrome, muscular
lar glaucoma). dystrophy, and fascio-scaspulohumeral
dystrophy.
• The severity and rate of progression are
greatest in younger patients (less than 4 years
ofage). DIFFERENTIAL DIAGNOSIS
• Older children and, rarely, adults may
complain ofreduced vision in one eye. • The differential diagnosis of Coats' disease
depends on the severity ofthe disease being
considered.
PATHOPHYSIOLOGY
• Childhood disease {leukokoria or emda-
tive retinal detachment)
• 'Ihe retinal vessels become telangiec-
tatic and develop multiple aneurysmal • Retinoblastoma
Coats' Disease 29S
Persistent hyperplastic primary vitreous angiography may be helpful in detecting

(PHPV)/PFV telangiectatic retinal vascular abnormalities.
ROP Characteristic "lightbulb" aneurysmal
dilations oflarger retinal vessels are particu-
FEVR
larly obvious on fluorescein angiography
Norrie's disease (Fig. 7-23 ). Retinal capillary nonperfu-
Ocular toxocariasis sion may also be seen with fluorescein
Von Hippel-Lindau disease angiography.
Peripheral exudative vitreoretinopathy • In cases with a poor view of the fundus,
ultrasonography is helpful and may exhibit a
Incontinentia pigmenti (Bloch-
hyperechoic mass in the posterior vitreous,
Sulzberger syndroine)
occasionally with evidence of vitreous and/or
Pars planitis subretinal hemorrhage.
Retinitis pigmentosa with Coats'-lik.e
response
PROGNOSIS AND
Vitreous heinorrhage MANAGEMENT
• Parafoveal telangiectasia with or without
lipid exudation • Management consists of observation;
Diabetic retinopathy cryotherapy or laser photocoagulation may be
applied to areas of retinal vascular abnormali-
Radiation retinopathy
ties with progressive exudation (Fig. 7-24).
Juxtafoveal retinal telangiectasia Multiple treatment sessions are often neces-
Branch retinal vein occlusion sary and close follow-up is warranted because
• Localized telangiectasia with arterial or recurrences have been reported up to 5 years
venous aneurysins after coinplete resolution.
Retinal cavernous heinangioina • Vitrectomy and scleral buckling can be
considered for retinal detachment, total
Acquired retinal arterial
retinal detachment typically results in
Inacroaneurysin
permanent, profound vision loss despite
Idiopathic retinal vasculitis, aneurysms, interventi.on.
and neuroretinitis (IRVAN)
• Enucleation should be considered for
eyes with no light perception and persistent
DIAGNOSTIC EVALUATION pain.
• The diagnosis is usually made through

ophthalmoscopy; however, fluorescein
296 7 CONGEN ITAL AND PEDIATRIC RETINAL DISEASES
PIGUllB 7·20. Coats• dieeue. A, Peripheral fundus of an asymptomatic patient with miaoaneurysms,
intraretinal hemorrhagea, and lipid au.dates. B. Posterior pole of the same patient with a normal macula.
Coats' Disease 297
FIGURB 7-21. Com' dUeue. Total audative retinal detachment.
FIGURB 7-22. Com' dUeue. Peripheral fundus demonstrating venous dilatio11t microaneuryams, 1ubretinal
lipid sudation (arrow), and larger retinal vessels with •lightbulb• aneurysmal dilations (inset).
298 7 CONGEN ITAL AND PEDIATRIC RETINAL DISEASES
FIGUJlB 7-23. Com' dUeue. Pluoracein angiogram of the 1ame patient u in Figare 7-22 clearly showing
dilated retinal venels with aneurysmal dilatiom.
Coats' Disease 2 99
PIGUllB 7·24. Coats• dieeue. A, Peripheral fundus showing aneurysmal dilation and hemorrhage with some
em.elation from Coats' diaeue. B. Same area 4 months after cryotherapy showing involution ofanearys1111 and
resolution ofhem.orrhage and emulates.
• '!here is often a pigmented border marking

CH ORIORETINAL the transition from the coloboma to the nor-
COLOBOMA mal retina and choroid.
chorioretinal coloboma is a develop-

ental abnormality caused by failure of ASSOCIATED
complete closure ofthe embryonic fissure. CLINICAL SIGNS
• The coloboma may extend back to the

EPIDEMIOLOGY optic nerve (Fig. 7-26) and forward to
AND ETIOLOGY involve the ciliary body, zonules, and iris.
• The lens may he flattened at the pole cor-
• Chorioretinal coloboma is a congenital
responding to the colohoma owing to the
developmental abnormality. There are rare
missingzonule (Fig. 7-27).
cases of autosomal-recessive inheritance.
• 1he retina and choroid are absent in areas
affected. A thin intercalary membrane cov- DIFFERENTIAL DIAGNOSIS
ers the scl.era. 'Ibis membrane consists of
rudimentary retina with blood vessels. 'Ihe • Chorioretinal scar (e.g., ocular
coloboma is located inferiorly, because the toxoplasmosis)
embryonic fissure is located inferonasally in • Degenerative myopia
the developing eye.
HISTORY
• Ophthalmoscopy usually suffices to make
• Patients are usually asymptomatic unless the diagnosis of chorioretinal coloboma.
the optic nerve or macula are involved or if
there are secondary effects. PROGNOSIS AND
• Retinal breaks may occur in the intercalary MANAGEMENT
membrane. Retinal detachment may then
occur and cause symptoms. • No treatment is necessary unless retinal
detachment occurs (Fig. 7-28).
• Vitrectomy surgery is necessary to man-
IMPORTANT age the retinal detachment associated with
CLINICAL SIGNS chorioretinal coloboma. Internal drainage
through the hole in the intercalary membrane
• A white area (sclera) is visible in the infe- is performed (if the hole can be found) and
rior fundus to a variable extent depending on laser photocoagulation is placed around the
the size ofthe defect (Pig. 7-25). margins ofthe coloboma.
• 1he margins ofthe coloboma are well
defined.
Chorioretinal Coloboma. 3 0 I
FIGURB 7-25. Choriontinal. coloboma. Chorloretioal defect in the in£mor fundU1.
FIGURE 7-26. Chorloretlnal coloboma. Colobomato111 defect involving the inferior fundw and optic nerve.
FIGUJlB 7-27. Choriontinal coloboma. :&tension of coloboma anteriorly. Note &ttening of the infetior pole
of the lem ( cirrow) due to the mialing portion of the zon\lle.
Chorioretinal Coloboma. 3 0 3
PIGUllB 7·28. Chorloretinal Qlloboma. Posterior pole (A) and inferonasal area (B) ofa patient with
chorioret:inal coloboma and u1oc:iated rhegmatogenous retinal detachment.
retrolental membrane. There is a stalk oftis-

PERSISTENT sue emanating from the optic disc to the ret-
HYPERPLASTIC PRIMARY rolental area (Fig. 7-30).
VITREOUS/PERSI STENT • Often, an associated retinal fold is located
FETAL VASCULATURE in an inferior quadrant.
HPV was thought to be caused by failure

P of the primary vitreous to regress. Now
the tenn PFV bas been proposed to integrate
ASSOCIATED
CLINICAL SIGNS
the findings that occur when there is failure of
regression of components ofthe fetal vessels. • Cataract and narrow-angle glaucoma may
occur in the anterior fonn of PFV ifa dehis-
cence in the lens capsule occurs.
EPIDEMIOLOGY • Severe cases may progress to retinal
AND ETIOLOGY detachment and phthisis bulbi
• PFV is a rare developmental abnonnality.

• The condition is almost always unilateral
and is more common in males than females. • Tue differential diagnosis ofthe anterior
• Anterior and posterior fonns exist, and PFV is that ofleukokoria.
both may be present together. • Tue differential diagnosis of the posterior
PFV is ROP, ocular tm.ocariasis, and FEVR.
HISTORY
• In the anterior form, infants present
with leukokoria due to a white, vascularized • Clinical examination ofthe anterior seg-
fibrous membrane behind the lens. ment is important in establishing the diag-
• In the posterior form, the eye may be nosis of PFv. Ifthe anterior segment is not
microphthalmic but the anterior segment is affected, the diagnosis of the posterior PFV
otherwise normal. The infant may present with can be established by ophthalmoscopy.
leukokoria due to a persistent stalk oftissue • Ultrasonography and computed tomo-
from the optic nerve to the retrolental region. graphic (CT) scanning may help differentiate
PFV from retinoblastoma, especially when
IMPORTANT the anterior segment is involved.
CLINICAL SIGNS
PROGNOSIS AND
• In the anterior form, microphthalmia, a MANAGEMENT
shallow anterior chamber and long ciliary
processes visible through the pupil are seen • Pars plana vitrectomy, lensectomy removal
in association with the white pupillary reflex of the fibrovascular retrolental membrane,
(Fig. 7-29). and anterior vitrectomy in the anterior PFV
• In the posterior fonn, the eye may be help prevent narrow-angle glaucoma, but
microphthalmic with a clear lens and no visual results are poor.
Persistent Hyperplastic Primary Vrtreous/Permtent Fetal Vasculature 30 S
PIGUBB 7-2.9. Pent.tent hJperplutlc primary'ritreoaa (PHPV)/pem.tent fetal vuc:a1atme (PFV).

Anterior PHPV/PFV in a microphthalmic eye. Note the white rdu due to vuculam.ed membrane behind the
lens and Qliary proceaes dragged in toward the center.
FIGUllB 7-30. PHPV,/PFv. Bztemal view of posterior PHPV/PFV. Note termination of the stalk of tissue on
the posterior surface of the lena. Ciliary processes are not dragged in toward the center.
Juvenile X-Linked Retinoschisis 30 7
retinal pigment epithelial alterations in older

JUVENILE X-LINKBD patients.
RETINOSCHISIS
• Peripheral retinoschisis is present in
5096 of patients (Fig. 7-32) . It is most
uvenile X-linked retinoschisis is a heredi-
J tary disorder characterized by diffuse
retinal dysfunction with a stellate macula in
common inferiorly and is at the level of the
nerve fiber layer. Often, breaks occur in the
elevated nerve fiber layer leaving unsup-
all cases and splitting of the nerve fiber layer
ported retinal vessels that can rupture,
in 5096 of cases.
causing vitreous h emorrhage (Fig. 7-33).
Breaks can occur in the inner layer causing
rhegmatogenous retinal detachment
EPIDEMIOLOGY (Fig. 7-34) .
AND ETIOLOGY
• Juvenile X-linked retinoschisis is a bilat- ASSOCIATED

eral inherited disorder occurring in males. CLINICAL SIGNS
Linkage studies have localized the retinoschi-
sis gene to the distal short arm of the X chro- • Less common findings include traction
mosome (Xp22.1- p22.3). or eDidative retinal detachment, exten-
• 'Ihe electroretinographic abnormalities sion of the retinoschisis into the macula,
implicate Miiller cell dysfunction. macular ectopia with nasal or temporal
dragging, hypermetropia, cataract, and
strabismus.
HISTORY
• Patients may present with reduced vision DIFFERENTIAL DIAGNOSIS

from the macular changes.
• Earlier presentation occurs due to routine • ROP
examination offamily members with a family • Goldmann-Favre disease
history of the disease. • Retinitis pigmentosa
• In patients with severe peripheral involve- • FEVR
ment, vitreous hemorrhage resulting from
rupture of unsupported retinal vessels in the
elevated nerve fiber layer may cause abrupt DIAGNOSTIC EVALUATION
loss of vision.
• The stellate macula is often best seen with
red-free illumination. Although it has the
IMPORTANT appearance ofcystoid macular edema, there is
no leakage of dye on fluorescein angiography.
CLINICAL SIGNS
• Electroretinographyis usefulbecause patients
• Foveal schisis is present in all cases and typicallyhave selective loss ofthe b-wave.
appears as a stellate maculopathy on ophthal- • Examination offamily members, some
moscopic examination (Fig. 7-31). 'Ihe stel- ofwhom may have the disease, may aid in
late appearance often gives way to ill-defined diagnosis.
PROGNOSIS AND • Retinal detachment repair can be

MANAGEMENT attempted with scleral buckling or vitrectomy
techniques.
• There is no treatment for the macular • Genetic counseling should be offered.
aspects of the disease.
• Vitrectomy can be performed for non-
clearing vitreous hemorrhage.
Juvenile X-Linked Retinoschisis 3 0 9
PIGUllB 7-:U.Jannlle X-llnbcl retbto•cldala. A. Foveal sc:him. B. High-power image of foveal scliisis; note
radiating retinal 1triae.
FIGUllB 7-3~ JaftDfle X-llnbd ntino1chlm. Highly bullous peripheral retin01chi1i1.

Juvenile X-Linked Retinoschisis 311
FIGURB 7-S3.J....mleX-llnkedretiao1c:ldlia. Inferlor retinmchiaia with large brew (arrow) and

UD1Upported retinal veaels (•).
PIGURB 7-34. J8"Dlle X-llnked retino1c:blU.. Rhegmatogenous retinal deta.chment in a patient with juvenile
X..-linked retinoacbisia. Note the stellate appearance In the mac:ula due to foveal achims.
LBBBR'S CONGENITAL ASSOCIATED

CLINICAL SIGNS
AMAUROSIS
• Many children are highly hyperopic.
L eber's congenital amaurosis is a group
of diseases characterized by severe loss
of vision from birth associated with nystag-
• Older children may develop cataracts and
keratoconus.
mus and severely impaired electroretinogram
(ERG) responses for both rods and cones. DIFFERENTIAL DIAGNOSIS
EPIDEMIOLOGY • Albinism
AND ETIOLOGY • Congenital stationary night blindness
• Achromatopsia
• Leber's congenital amaurosis is a heredi-
tary disease most commonly inherited as an
autosomal-recessive trait.
• Several genetic defects have been • Fundus examination is often not
identi.6.ed. helpful because infants may have a normal-
appearing fundus. Arteriolar attenuation,
HISTORY optic nerve pallor, and pigmentary degen-
eration may occur later in childhood
• Patients usually present because of nys- (Fig. 7-35).
tagmus or strabismus; however, parents may • Electrophysiologi.c testing is necessary to
be concerned earlier that the infant does not establish a diagnosis. The ERG is typically
recognize faces. minimal or extinguished.
IMPORTANT PROGNOSIS AND

CLINICAL SIGNS MANAGEMENT
• The fundi are usually normal. Horizontal • There is no treatment available.
nystagmus is present.
Leber's Conge:nita!Amanrosis 313
FIGUllB 7-35. Leber• COllpllital UIWl.l'Oaia. Fundus of an older child demonttrating one of the late
pattern• of Leber'• congenital amaurolia. Note pigmentary retinopathy and •macuJ.ar coloboma,· clioriORtinal
degeneration. in the macu1a.
CHAPTER
8
Traumatic and Toxic Retinopathi es
J Luigi Borrillo and Carl D. Rtgillo •
COMMOTIO RETINAB • Be mindful ofother findings seen in

trauma such as hyphema or microhyphema,
ommotio retinae is retinal whitening that choroidal rupture, retinal hemorrhage, retinal
C occurs after blunt ocular trauma. 1his
transient condition affects the outer retina.
dialysis, avulsed vitreous base, and vitreous
hemorrhage.
Often the damage incurred to the photorecep-
tors is reversible. DIFFERENTIAL DIAGNOSIS
EPIDEMIOLOGY • Other entities that may mimic commotio
retinae include branch retinal artery occlu-
• Statistically the condition is most com- sion, white-without-pressure, and shallow
mon in young males. retinal detachment.
HISTORY
• Patients have a history of blunt ocular
• Diagnosis is based on clinical examination.
trauma.
• Optical coherence tomography (OCT)
CLINICAL SIGNS may demonstrate increased reflectivity
in areas of damaged photoreceptor outer
• The condition is usually asymptomatic. segments.
Decreased vision may occur with macular
involvement. The retina appears whitened, PROGNOSIS AND
while the retinal vasculature remains unaf- MANAGEMENT
fected. The retina regains its normal appear-
ance within weeks (Fig. 8-1). Occasionally, • Retinal whitening resolves without visual
changes to the retinal pigment epithelium compromise. However, permanent visual acu-
(RPE), such as stippling or clumping, may be ity loss can sometimes occur ifmacular retinal
seen after the retinal whitening resolves. pigment epithelial disruption is present.
314
Commotio Retinae 31 s
PIGURB 8-1. Commotlo retlau. A. Comm.otio retinae: Outer retinal whitening in the polt:erior pole after
blunt trauma. B. Outer retinal whitelling in the peripheral retina.
316 8 TRAUMATIC AND TOXIC RETINOPATHIES
ruptures, commotio retinae, vitreous hemor-

CHOROIDAL RUPTURE rhage, retinal tears, retinal dialysis, and orbital
fractures.
n this injury, disruption of the choriocapil-
I laris and Bruclis membrane occurs second-
ary to traumatic ocular compression. Ruptures
• Later, choroidal neovascularization
( CNV) may occur at the edge ofthe rupture
located in the posterior pole are concentric to site (Fig. 8-lB).
the optic disc. These breaks are often associ-
ated with subretinal and subretinal pigment DIFFERENTIAL DIAGNOSIS
epithelial hemorrhage.
• Myopic lacquer cracks and angioid streaks
may have a similar appearance.
EPIDEMIOLOGY
AND ETIOLOGY • Other causes ofsubretinal hemorrhage
include CNV; retinal arterial macroaneurysm,
Valsalva retinopathy, and anemia.
• Choroid.al rupture occurs as a result of
trauma, most commonly in young males.
HISTORY
• Patients have a history ofblunt ocular
trauma. PROGNOSIS AND
MANAGEMENT
CLINICAL SIGNS
• Visual prognosis depends on the location
• The characteristic :finding is subretinal ofthe choroidal rupture with respect to the
hemorrhage, with whitish, crescent-shaped fovea and any associated subretinal or subreti-
lesions around the optic disc (Fig. 8-2A). nal pigment epithelial hemorrhage.
In the acute setting, choroidal ruptures may • Secondary CNV can occur at anytime dur-
be associated with other :findings from blunt ing the follow-up period and can cause visual
ocular trauma such as hyphema, iris sphincter acuity loss.
Choroidal Rupture 31 7
FIGUJlB 8-2. Cltoroiclal rapture. A. Choroidal rupture: Crescent-shaped lesion in the mac:u1a with subretinal
hemorrhage (inset). B. Chronic dioroidal rupture: Yellow crescent-shaped rupture site with pigmented
ch.oroidal n.eavucularization (arrow) and associated sub.retinal :8.utd in the fovea.
318 8 T RAUMATIC AND TOXIC RETINOPATHIES
• An avulsed vitreous base maybe associ-

AVULSED VITREOUS BASB ated with hyphema, iris sphincter tears, com-
motio retinae, vitreous hemorrhage, retinal
T his entity describes separation of the vit-
reous base at the ora serrata that occurs
secondaryto trauma. Sometimes the avulsed vit-
tears, retinal dialysis, or orbital fractures.
reous base can be seen floating in the periphery.

• Avulsed vitreous base should be distin-

EPIDEMIOLOGY guished from retinal dialysis.
AND ETIOLOGY
• Other entities that may mimic this condi-
tion include old vitreous hemorrhage.
• 'The injury occurs as a result oftrauma,
usually in young males.
HISTORY
• Diagnosis is based on binocular indirect
ophthalmoscopywith sderal depression.
• Patients have a history of blunt ocular
trauma.
PROGNOSIS AND
CLINICAL SIGNS MANAGEMENT
• A semitransparent, sometimes pigmented, • No treatment is necessary. Patients

curvilinear ribbon-like structure may or may should be observed for the subsequent
not be completely separated from the retinal development of trauma-related ocular
periphery (Pig. 8-3). problems such as retinal breah and angle-
recession glaucoma.
• 'The presence of an avulsed vitreous base is
pathognomonic for ocular trauma.
FIGURB 8-~. Avalled 'Vitreom bue. Nasal avulsed vitreous bue (am>w) is pathognomonic for prior trauma.
Solar Maculopathy- 319
• Retinal pigment epithelial changes (focal

SOLAR MACULOPATHY hyperpigmentation) may be evident in the
foveal or parafoveal area at later stages.
olar maculopathy is the visual loss resulting
S from foveal photoreceptor and retinal pig-
ment epithelial damage as a consequence ofswi-
gazing or direct observation ofa solar eclipse.
• Pseudomacular hole, photic maculopathy,
and macular dystrophy or degeneration may
EPIDEMIOLOGY have a similar appearance.
• There is a trend for higher incidence

in areas where a solar eclipse was directly
observable. Solar maculopathy is more com-
mon among individuals involved in sun-
worshiping religious groups. Loss of the ozone • Fluorescein angiography will reveal non-
layer has been associated with solar retinopa- specific retinal pigment epithelial window
thy among sunbathers in the United States. defects centered on the fovea.
• 0 CT may demonstrate disruption of foveal
HISTORY inner and outer photoreceptor segments.
• Patients have a history of sungazing. PROGNOSIS AND

MANAGEMENT
CLINICAL SIGNS
• Good visual recovery occurs in most
• There is an abnormal foveal reflex. patients, but it may take weeks or months for
• Often, a sharply demarcated yellow or red- vision to improve.
dish spot is visible in the fovea (Fig. 8-4). • No treatment is needed.
FlGUllB 8-4. Solar retlnopathy. A. Color fandus photograph demonstrating deep yellow foveal luion (inset).
(continued)
FIGURE 1-4. ( Qmtinued) Solar retlnopathy. B. Corraponding 8.uorescein angiogram photograph

demomt:rating foveal window defect. C. Acute solar retinopathy with yellow foveal lesion and hemorrhage.
Vi1ual aatityu 20/ 30. (B, Courtesy ofDr.Alennd.erJ. Brucker.)
Valsalva Retinopathy 3 21
VALSALVA RETINOPATHY
• Retinal macroaneurysm, diabetic reti-
n Valsalva retinopathy, unilateral or bilateral
I retinal or preretinal hemorrhage occurs as a
result ofan acute episode ofincreased intratho-
nopathy, venous occlusion, anemia, anti-
coagulant therapy, retinal tear, or posterior
vitreous detachment with associated hemor-
racic pressure. Superficial capillaries rupture
rhage may mimic the findings of Valsalva
secondary to a shai:p rise in ocular intravenous
retinopathy.
pressure.
• The condition can occur in persons of any • Diagnosis is based on clinical examination.
age. • B-scan ultrasonography is performed to
evaluate for underlying retinal detachment
HISTORY or retinal tear in the setting of dense vitreous
hemorrhage.
• Patients usually have a history ofrecent • OCT may demonstrate hemorrhage
strenuous physical exertio~ coughing, vomit- underneath reflective signal ofthe internal
ing, or straining (e.g., with constipation). limiting membrane.

• Single or multiple intraretinal hemor-
MANAGEMENT
rhages (often underneath the internal limiting
• 'Ihe visual prognosis is good.
membrane) are noted in the posterior pole
(Fig. 8-S). There may be a decrease in visual • Management consists of observation,
acuity when the hemorrhage is localized in or only, in most cases. Hemorrhages will resolve
over the foveal region. spontaneously.
• Subconjunctival hemorrhage may be asso- • Vitrectomy may be considered for non-
ciated with this condition. Significant vitreous clearing vitreous hemorrhage (but is rarely
hemorrhage is rare. indicated).
PIGUllB 8-S. Val.lam ntinopadry. Multiple superfidal retinal hemorrhage. in the macula.
Shalcm Baby Syndrome 3 23
hemorrhages resolve over the course of weeks

SHAKEN BABY SYNDROME and are often not associated with neurologic
sequelae.
T his condition refers to intraocular hem-

orrhages in infants or young children
secondary to child abuse. The findings are
• Leukemia and intraocular infections may
also mimic the ocular findings ofshaken baby
associated with decreased visual acuity and syndrome.
increased mortality.
EPIDEMIOLOGY
• Clinical examination: Evaluation for
• The condition is most common in infants delayed neurologic development and sys-
and toddlers. temic signs of child abuse
• Head CT to evaluate for intracranial
hemorrhage
HISTORY
• Bone scan is more sensitive in detecting
• Recently, often multiple episodes of vio- fractures and exposes the child to less radia-
lent shaking of the infant precede findings, tion while providing a whole body skeletal
although it is often difficult to obtain a history survey. Bone scan findings may tailor subse-
of abuse from the caretaker. Caretakers may quent x-ray studies.
refuse diagnostic evaluation. • X-ray studies: Fractures at different stages
ofhealing, leg fractures prior to bipedal
CLINICAL SIGNS ambulation (prior to 12 months ofage), and
posterior rib fractures are highly suspicious
• Subretinal, intraretinal, or preretinal for child abuse.
hemorrhages are noted in one or (more com- • Optical coherence tomography: Preretinal
monly) both eyes (Fig. 8.-6A). The preretinal hemorrhage, vitreoretinal traction, and
hemorrhages are typically globular as opposed hemorrhagic macular retinoschisis may be
to flat (Fig. 8.-68). Other signs include poor observed.
visual or pupillary response. No single ocular
finding is pathognomonic.
PROGNOSIS AND
• Ecchymosis, long bone and rib fractures, MANAGEMENT
lethargy, or developmental delay are common
associated findings. Often the child has physi- • A pediatric consultation should be con-
cal findings that do not match the reported sidered to evaluate for child abuse. The
mechanism of the injuries. prognosis is largely dependent on associated
brain injury. Poor pupillary response, poor
DIFFERENTIAL DIAGNOSIS visual acuity, and retinal hemorrhages have
been associated with high infant mortality.
• Birth trauma: Intraretinal hemorrhages Conversely, the presence ofgood visual acuity
may be seen in newborns, especially with and normal pupillary reflexes are associated
the use offorceps in the delivery. 'Ihese with a better prognosis.
FIGUJlB 8-6. Slaaba baby syndrome. A. Multi.pie intraret:inal. and preretinal h.e:morrhagea in the poaterlor
pole. B. Note the globular nature (arrows) of the preretinal hemorrhage in shaken baby syndrome. (A, Courtesy
of Dr. Richard Spaide.)
Tc-son's Syndrome 3 :2 S
1 Spontaneous hemorrhages are a result ofvas-

TERSON S SYNDROME cular abnormalities such as aneurysms, arte-
riovenous malformations, or fistulas.
T erson's syndrome encompasses any intra-

ocular (usually preretinal or vitreous)
hemorrhage associat.ed with either trawna- DIFFERENTIAL DIAGNOSIS
induced or spontaneous acute intra.cranial
bleeding. • Posterior vitreous detachment with vit-
reous hemorrhage, retinal vein occlusion,
retinal tear, proliferative diabetic retinopathy,
EPIDEMIOLOGY Valsalva retinopathy, or retinal arterial mac-
AND ETIOLOGY roaneurysm may mimic Terson's syndrome.
• The syndrome may affect individuals of DIAGNOSTIC EVALUATION

any age.
• The sudden increase in intracranial pres- • Neuroimaging is performed, using
sure directly or indirectly ruptures the peri- computed tomography (CT) or magnetic
papillary capillaries. resonance imaging (MRI). B-scan ultra-
sonography is used to evaluate for retinal
HISTORY detachment or retinal tear in cases where
vitreous hemorrhage precludes a view of the
• The presentation may include severe head- posterior segment. Optical coherence tomog-
ache or known acute neurologic event. raphy findings may be similar to Valsalva
retinopathy.
CLINICAL SIGNS
PROGNOSIS AND
• Patients may have varying degrees of MANAGEMENT
decreased visual acuity and multiple, usu-
ally bilateral, retinal hemorrhages (Fig 8-7). • The visual prognosis is often good.
Vitreous hemorrhage can also occur and may • There can be a high mortality rate depend-
be dense. ing on the location and severity of the intra-
• Other ocular signs associated with Terson's cranial hemorrhage.
syndrome include cranial nerve palsies, late- • Neurosmgical consultation is
appearing epiretinal membrane, or tractional recommended.
retinal detachment. • In cases ofbilateral vitreous hemorrhage
• The intracranial hemorrhages are usu- or dense nonclearing vitreous hemorrhage,
ally located in the subarachnoid space. vitrectomy may be considered.
PIGUllB 8-7. Tenon'• 9J1tdrome. A. Multiple retinal and preretinal hemorrhages in the posterior pole of a
patient who hu 1u1fered an acute subarachn.oid hemorrhage. B. More severe retinal hemorrhaging and vitreou
hemorrhage ill Terson'1 syndrome.
Purtscher's Retinopathy 327
PURTSCHBR~S
RETINOPATHY • This condition should be distinguished
from Purtscher's-like retinopathy, which has
urtscher's re~opa~ ~escrib~ decreased
P vision associated with mtraretinal hemor-
rhages and patches of retinal whitening sec-
a similar fundus presentation associated with
microemboli ofvarious compositions from a
wide spectrum of systemic conditions such
ondary to severe crushing injuries to the torso as pancreatitis, amniotic .fluid embolism, col-
or head. 'Ihe fundus findings are concentrated lagen vascular disease, thrombotic thrombo-
in the peripapillary area and may be unilateral
cytopenic purpura, and long bone fractures
or bilateral (Fig. 8.8B).
• Central retinal artery and vein occlusion
EPIDEMIOLOGY may also mimic the findings of Purtscher's
AND ETIOLOGY retinopathy.
• Persons of any age may be affected.

• Endothelial damage leads to intravascular
coagulopathy and granulocytic aggregation
• CT imaging of chest and long bones is per-
with microemboli formation.
formed, when indicated.
• Fluorescein angiography typically reveals
HISTORY
areas of retinal ischemia.
• There is a history of compressive trauma. • Optical coherence tomography reveals
edema of the nerve fiber layer and subretinal
CLINICAL SIGNS fluid.
• .Acutely, severe vision loss is noted in one PROGNOSIS AND

or both eyes. MANAGEMENT
• Cotton-wool spots centered on the optic
disc, hemorrhages, exudates, and retinal • Permanent visual loss may occur in half
edema are often seen. ofthe affected patients. No treatment is
• Fundus findings resolve over several weeks available.
(Fig. 8-8A).
• Optic atrophy may be a late finding.
PIGURB 8-8. Plll'Ucher'• rettaopathy. A. Multiple peripapillary cotton-wool tp<>tl centered around the optic
disc in a patl.ent with maaaive chest trauma. B. Multiple cotton-wool spots, hemorrhage, and macular infarction
in a man with Still'• diaeue.
Traumati.c Macular Hole 3 29
• The presence of a posterior vitreous

TRAUMATIC detachment is unlikely.
MACULAR HOLE
T his entity describes a full-thickness mac-
ular hole occurring after blunt ocular
trauma. • Solar retinopathy
• Nontraumatic m.acular hole
EPIDEMIOLOGY • Pseudohole secondary to epiretinal
AND ETIOLOGY membrane
• Persons of any age may be affected. DIAGNOSTIC EVALUATION

• The foveal defect develops as a result of
vitreous traction or contusion necrosis of the • Careful contact lens biomicroscopy is
retina and may be a direct consequence of indicated.
globe deformation. • Fluorescein angiography may reveal a
hyperfluorescent spot at the fovea correspond-
ing to a retinal pigment epithelial defect.
HISTORY
• Optical coherence tomography will reveal
• There is a history of recent blunt trauma or full-thickness neurosensory retinal loss in the
whiplash injury. fovea.

MANAGEMENT
• A full-thickness macular hole with
irregular border is seen on clinical examina- • The visual prognosis is variable.
tion. Macular pigmentary changes are often • Spontaneous closure oftraumatic macular
observed (Fig. 8-9), as well as a positive holes in young patients has been reported in
Watzke- Allen sign. the literature but is rare.
• Other associated signs may include sub- • A recent series suggests that the macu-
macular hemorrhage, choroidal rupture, lar hole surgery may be beneficial, with a
commotio retinae, or vitreous reported visual acuity of 20/SO or better in
hemorrhage. 64% of patients.
FIGUJlB 8-9. Traumatic macalar hole. A. Small, irregular full-thiclmesa macu1ar hole (inlet) and uaodated
mac:War retinal pigment epithelial dumping. B. Larger, irregular traumatic mac:War hole (inset) with marked
retinal pigment epithelial alteratlODI and a choroidal rupture (arrow) inferior to the optic diac.
Choriominitis Sdopetarta 3 31
path of the projectile. Often these areas are

CHORIORBTINITIS covered by hemorrhage.
SCLOPETARIA • Fibrous proliferation at the rupture sites
eventually ensues and becomes visible as any
horioretinitis sclopetaria is full-thickness
C disruption of the choroid and retina sec-
ondary to the concussive forces of a nonpen-
associated hemorrhage clears. Intraorbital for-
eign body is often present.
etrating high-velocity projectile.
EPIDEMIOLOGY
• A ruptured globe should be ruled out.
AND ETIOLOGY
• Choroidal ruptures may demonstrate a
• The injury is most common in young similar appearance as sclopetaria, but they are
males. usually located in the posterior pole.
• Traveling at high speeds, the projectile cre-
ates shock. waves that can rupture choroid and DIAGNOSTIC EVALUATION
retina but leave sclera intact. 'The defects are
subsequently replaced by fibrous tissue. • CT imaging is important to evaluate the
integrity of the glob~ detect any associated
orbital or central nervous system injuries, and
HISTORY
identify any orbital foreign bodies.
• Patients have a history ofa high-velocity
projectile, such as a BB pellet, to the orbit. PROGNOSIS AND
MANAGEMENT
CLINICAL SIGNS
• Visual prognosis is dependent on the
• The visual acuity is variable. Acutely, there location ofsclopetaria. Lesions involving the
may be preretinal, intraretinal, or subretinal macular region have poorer visual acuity.
hemorrhage as well as vitreous hemorrhage • Initial management is nonsurgical.
(Fig. 8-lOA). Subsequently, lesions have a The subsequent cicatricial process often
·claw-like• branching pattern (Fig. 8-lOB). fuses tissues, maldng retinal detachments
Bare sclera may be visible through the full- unlikely. Surgery is indicated in the subse-
thiclcness defects of the choroid and overly- quent development of retinal detachment
ing retina. Sclopetaria is usually located in or for the removal of nonclearing vitreous
the peripheral fundus, corresponding to the hemorrhage.
PIGUllB 8-10. ChodoretinitU edopetarla. A. Retinal whitening and preretinal hemorrhage in the posterior
pole of a patient IUltaining an orbital foreign body injury. B. Claw-like chorioretinal •earring after a high-velocity
bullet puaed through the orbit adjacent tu the eye.
Intraocular Foreign Body 333
tend to produce mild inflammation. Glass,

INTRAOCULAR carbon, porcelain, silver, and platinum are
FOREIGN BODY inert.
ntraocular foreign body (IOPB) refers to

I the presence of a foreign body in the eye
from a penetrating injury.
• Endophthalm.itis and uveitis may mimic

the findings ofIOFB.
EPIDEMIOLOGY
AND ETIOLOGY
• Young males are most commonly affected.
• Orbital CT is the imaging modality of
• The foreign body may serve as a nidus choice in detecting nonorganic IOFBs. Small
for endophthalmitis or severe inflammatory organic foreign bodies such as wood or veg-
reaction. etable matter may escape detection.
• An IOFB may also cause delayed effects • B-scan ultrasonography may detect
secondary to proliferative vitreoretinopathy IOFBs, retinal tears, or retinal detachments
or toxicity. when the posterior pole cannot be visualized
(Fig. 8-llB).
HISTORY • Serial electroretinograms should be con-
sidered for retained metallic foreign bodies to
• Most often there is a history of penetrating evaluate for toxic metallosis.
ocular injury.
• A foreign body sensation associated with
hammering, grinding, or other mechanism
PROGNOSIS AND
ofinjury may also be elicited. Injury in a MANAGEMENT
rural setting increases the risk ofsecondary
endophthalmitis. • Prognosis is largely dependent on the
location and nature of the IOFB. Repair
of the ruptured globe should be the first
CLINICAL SIGNS
priority. Prompt removal of the IOFB via
pars plana vitrectomy before 24 hours has
• VISUal acuity is variable. An obvious or
been found to decrease the incidence of
subtle point of entry of the IOFB may be seen
endophthalmitis.
(Fig. 8-llA). Other signs associated with
IOFBs include sectorial microcystic corneal • Considerations in the management of
edema, irregular pupil, transillumination iris IOFBs include the following:
defect, low intraocular pressure, intra.ocular Always consider an IOFB masquerade
inflammation, or vitreous hemorrhages. Later syndrome in the setting ofunilateral unex-
findings include endophthalmitis, hetero- plained uveitis.
chromia, cataract, or corneal deposits. A CT scan with 1-mm sections through
• Substances such as vegetable, iron, copper, the globe and orbit is the best single imag-
and steel may lead to intense inflammation ing scan. MRI may be superior for imaging
or infection. Nickel, aluminum, and mercury wood and organic material.
Copper, iron, and steel produce the • Prompt surgical removal is recommended
most intense intraocular inflammatory for vegetable, copper, iron, steel, or inert sub-
response. stances with toxic chemical coatings. Surgical
Surgical removal of intraocular for- extraction of certain metallic IOFBs may be
eign bodies is considered emergent and facilitated by a magnet.
should be performed as soon as possible. • Systemic and intravitreal antibiotics
Endophthalmitis associated with IOFBs is should be administered when there is a high
estimated up to 20%. index of suspicion for endophthalmitis.
Intraocular Foreign Body 33 S
FIGUllB 8-11. Jntraocalar foreign boclJ:. A. Metallic: foreign body in the retinal periphery. B. B-ac:an
ultruonography demomtrating acoustic shadowing (arrow) behind the intraocular foreign body.
Cardiac evaluation is important in

DISLOCATED LBNS evaluation for aortic aneurysm or
insufficiency.
his term describes the total displacement
T ofthe native lens into the anterior cham-
ber or the vitreous cavity as a result of lens
Weill- Marcbesani syndrome: Affected
individuals have short stature, seizures,
zonular disruption. microspherophaltia, brachydactyly, and
may have decreased hearing.
Homocystinuria: Patients may have
EPIDEMIOLOGY marfanoid features, thrombosis (especially
with general anesthesia), and below-
• 'Ihe condition is most common in young average IQ
males in the setting oftrauma. Individuals
• Other: Syphilis, sulfite o:x:idase defi-
with a familial or metabolic predisposition
ciency, high myopia, Ehlers-Danlos
to zonular weakness are also prone to lens
syndrome, and aniridia are other possible
dislocation.
etiologies oflens dislocation.
HISTORY
• 'There is usually a history ofblunt ocular
trauma. Often, the patient notes a dramatic • B-scan ultrasonography is used in
decrease in visual acuity because oflens the setting ofvitreous hemorrhage to
malposition. evaluate for lens position and retinal
detachment.
CLINICAL SIGNS • Medical consultation is appropriate
ifMarfan's syndrome, homocystinuria,
• There is decreased vision, and the natural syphilis, or another predisposing condition is
lens is seen in the anterior chamber or posterior suspected
pole (Fig. 8-12). Other signs associated with
lens dislocation may include iridodonesis, irreg-
ular anterior chamber depth, eyelid ecchymosis,
PROGNOSIS AND
vitreous hemorrhage, or orbital fractures. MANAGEMENT
• 'Ihe patient may have a physical habitus
• Conservative management such as
compatible with predisposing conditions
observation and contact lens wear may be
such as Marfan's syndrome or Weill-
considered. Management of dislocation of
Marchesani syndrome, among others.
the natural lens into the anterior chamber
causing glaucoma may include a trial of
DIFFERENTIAL DIAGNOSIS pupillary dilation and supine positioning
in an attempt to dislocate the lens into the
• Conditions other than severe blunt trauma vitreous cavity.
that predispose patients to lens dislocation • A lens that cannot be repositioned into
include: the vitreous cavity or that has a disrupted
• Marfan's syndrome: Patients are lens capsule may require vitrectomy and
often tall and may have arachnodactyly. lensectomy.
Dislocated Lens 337
PIGURB 1-12. Dlllocat.cl len.1. Intact natiw lens in the vitreous owr a glauc:omatoUI optic dilc. ( Courtfff of
the Willa.Bye Hospital collection, Philadelphia, PenmyMmia.)
Canthar.mthin toxicity: Patients may

volunteer a history ofusing oral tanning
agents. 1he total cumulative dosage usually
alc re~opa~ describes the presence
T of an mtraretinal, yellow, refractile sub-
stance in patients who abuse intravenous
exceeds 19 g.
• Tamoxifen (Nolvadex) use: Often there
drugs, especially those using products made is a history ofbreast cancer and use ofthe
from crushed tablets or powder. antiestrogen agent for a cumulative dosage
ofat least 7.7 g.
EPIDEMIOLOGY • Retinal emboli associated with carotid
AND ETIOLOGY obstructive disease or cardiac valve
disease. Carotid ultrasonography or
• The condition can occur in persons ofany cardiac echography may reveal the embolic
age. source.
• The talc component ofthe injected medi- • Intraretinal crystals

cation migrates through microvascular venu- Talc particles (intravenous drug abuse)
lar to arteriolar shunts in the lungs and into Cholesterol (Hollenhorst plaque) or
the retinal arterioles. other emboli
Canthuanthin ingestion (oral tanning
HISTORY agent)
• Patients have a history ofchronic intra- • Tamoxifen

venous drug abuse. A history ofintrave- Methoxyflurane anesthesia
nous injection ofaushed methylphenidate Cystinosis
(Ritalin) tablets may be elicited. Parafoveal telangectasia (Singemwis
dots)
CLINICAL SIGNS
Intraretinal lipid (hard exudates)
• Irregular refractile elements are seen • Subretinal crystals (often associated with
through.out the retina (intravascular space), RPE alterations)
especially within the macula (Fig. 8-13). Calcified drusen
• Other intraocular signs that may be seen Bietti's corneal and macular crystalline
include neovascularization ofthe retinal dystrophy
periphery (or optic nerve), macular pucker or
fibrosis, or vitreous hemorrhage.
• Inspection ofthe skin may reveal evidence
ofintravenous drug abuse.
• Fluorescein angiography may reveal areas
ofnonperfusion in the retinal periphery.
• Optical coherence tomography
• The differential diagnosis for talc retinopa- may reveal hyperrefiective bodies cor-
thy includes other causes of crystalline reti- responding to inner retinal crystalline
nopatby such as: deposits.
Talc Retinopathy 3 3 9
PROGNOSIS AND • Decreased visual acuity may also occur

MANAGEMENT secondary to macular fibrosis associated
with intravenous methylphenidate abuse.
• The visual prognosis is variable. In the set- Peripheral laser treatment can cause regres-
ting of chronic intravenous drug abuse, visual sion of retinal neovascularization.
acuity may be decreased as a result of macular
retinal capillary nonperfusion or vitreous
hemorrhage.
PIGUllB 8·13. 'Dile retinopatlly. A. Color fundus photograph demonstrating yellow refractile partides within
the retina. B. Red~free fundm photograph bigbUghting intraretinal macular refractile depotib.
Chloroquine or Hydraiychloroquine Retinopathy 3 41
may display systemic .findings ofrheumatoid

CHLOROQUINE OR arthritis or lupus erythematosus.
HYDROXYCHLOROQ.UINE
RETINOPATHY DIFFERENTIAL DIAGNOSIS
T his entity describes degeneration of the

RPB and neurosensory retinal dam-
age resulting from chronic daily ingestion of
• Cone dystrophy
• Chloroquine or h.ydroxychloroquine toxicity
chloroquine (Aralen) or hydroxychloroquine • Benign concentric annular dystrophy
(Plaquenil). • Spielmeyer-Vogt- Batten disease
• Stargardt's maculopathy
EPIDEMIOLOGY • Age-related macular degeneration
• Fenestrated sheen macular dystrophy
• 'Ihe condition occurs in individuals receiv-
ing chloroquine for antimalarial treatment
and in patients with rheumatoid arthritis or
lupus erythematosus who take hydroxychlo-
• Amsler grid evaluation may allow the
roquine. lfydroxychloroquine is less likely
patient to detect early scotoma formation.
than chloroquine to cause retinopathy..
• Humphrey visual field testing using red
light may be the most sensitive means of
HISTORY detecting a paracentral scotoma.
• '!here is a history of daily dosages exceed- • Color vision testing may reveal
ing 250 mg of chloroquine or 4-00 mg of dyschromatopsia.
hydroxychloroquine. • Fluorescein angiography will show retinal
pigment epithelial window defects in macular
CLINICAL SIGNS region.
• Blectroretinography and electrooculogra-
• Visual acuity is variable. phy may be abnormal late .findings.
• An abnormal foveal reflex and subtle • Optical coherence tomography may reveal
parafoveal retinal pigment epithelial stippling thinning ofmacular and parafoveal retina
precedes the development ofa ring ofretinal with loss ofganglion cell layer.
pigment epithelial atrophy surrounding the
foveal region, known as the classic •bull's-eye• PROGNOSIS AND
maculopathy (Pig. 8-14). Retinal pigment MANAGEMENT
epithelial disturbance underneath the fovea is
associated with decreased visual acuity. • Prompt discontinuation ofmedication on
• A paracentral scotoma is the earliest sign detection oftoxicity usually prevents further
ofchloroquine or hydroxychloroquine toxic- damage to the RPE and retina.
ity and may precede the development offun- • Patients with mild retinal pigment epithelial
dus findings. changes may revert to normal and retain good
• Other signs of chloroquine or hydroxy- visual acuity. In advanced cases, however, the
chloroquine retinopathy include retinal vessel condition may worsen despite cessation ofthe
attenuation and corneal verticillata. Patients medication, and visual loss may ensue.
FIGUJlB 8-14. Cbloroqaine ntinopadry. A. Subtle parafoveal retinal pigment epithelial alterations (arrow)
in a patient with a history of long-term cliloroquine use. B. Bull's-eye ma.c:ulopatby (inlet) associated with
chloroquine retlnopathy. (A, Courtesy of Dr. Alexander J. Brucker; B, courtesy of the WW. .B~ Hospital
collection, Philadelphia, Pennsylvania.)
Thioridazine Retinopatby 343
• Nummular retinal pigment epithelial

THIORIDAZINB loss may be seen in intermediate stages
RBTINOPATHY (Fig. 8-lS).
• Late features ofthioridazine toxicity
hioridazine retinopathy describes visual
T disturbance and pigmentary retinopathy
that results from chronic high-dose thiorida-
include optic atrophy, retinal vessel attenu-
ation, diffuse RPE, and choriocapillaris
atrophy.
zine use. Daily doses are more predictive of
retinal toxicity than the total cumulative dose.
EPIDEMIOLOGY • Gyrate atrophy, retinitis pigmentosa,
AND ETIOLOGY cancer-associated retinopathy, choroideremia,
syphilis, viral chorioretinitis, and trauma may
• Individuals with psychiatric disorders demonstrate findings similar to thioridazine
requiring thioridazine. toxicity.
• 1he exact mechanism ofretinal dam.age
is unclear although the medication is felt to DIAGNOSTIC EVALUATION
accumulate in retinal pigment epithelial cells.
• Humphrey visual field testing may reveal
HISTORY paracentral scotomas or constriction.
• Fluorescein angiography may reveal a
• 1he use ofthioridazine (Mellaril) in excess spectrum ofretinal pigment epithelial win-
of 800 mg per day has been associated with dow defects and disruption ofthe choriocap-
retinopathy. illaris. 1he electroretinogram may be normal
in early stages, but demonstrate attenuation in
CLINICAL SIGNS later stages.
• Acute toxicity is manifested by the sud- PROGNOSIS AND

den onset ofvisual disturbance, nyctalopia, MANAGEMENT
or dyschromatopsia (red or brown coloration
ofvision). Retinal pigment epithelial changes • Cessation ofthe drug early in the course
can progress despite drug cessation. ofthe toxicity may lead to reversal ofvisual
• Early changes include granular retinal disturbance. However, prolonged use ofthe
pigment epithelial stippling posterior to the medication may lead to progressive visual loss
equator. despite drug cessation.
FIGUJlB 8-15. '.lblodclulne retinopat:Jrr. A. Wldnpread retinal pigment epithelial and choriocapillaril
atrophy. B. Less wide1pread retinal pigment epithelial and choriocapillaris atrophy may be mistaken for
geographic atrophy due to age-related macular degeneration. Visual acuity ii 20/200.
(continued)
'Ihiorldazine Retinopathy- 3 4 S
PIGURB 1-15. (Continued) 'lbioridazine ntinopathy. C. Fluoracein angiog:ram lhowing retinal pigment
epithelial atrophy as well aa nummular areas ofchoroidal 'VUcular 10111 ( am>WS).
CHAPTER
9
Peripheral Retinal Disease
Jatms F. Vander •
RETINAL BREA.IC OR TBAR • Many breaks are asymptomatic.

• Ifassociated with retinal detachment
etinal break or tear describes a full- (RD), then progressive visual field loss occurs.
thickness defect in the retina, generallyin
the retinal periphery, although the break. may
occur anywhere. Breaks occurring as the result IMPORTANT
ofvitreous traction are known as retinal tears. CLINICAL SIGNS
EPIDEMIOLOGY • Types ofretinal breaks

AND ETIOLOGY Horseshoe (flap) tears: 'Ihe horseshoe
is open anteriorly. Vitreoretinal traction
• Retinal breaks are common. They are often persists (Fig. 9-2).
more frequent in myopia, pseudophakia, and Operculated tears: A fragment ofretina
after trauma. is tom completely free ofthe retina and
• Many cases are bilateral and multiple. floats above it 'The vitreous traction is
relieved (Fig. 9-3).
• Retinal tears are caused byvitreous trac-
tion, most commonly found with degenerative Atrophic retinal break: Usually round,
vitreous liquefaction and posterior vitreous often small, holes; not associated with trac-
detachment (Fig. 9-1). Other retinal breaks tion (Fig. 9-4).
(see later discussion) result from developmen- Retinal dialysis: Disinserti.on ofthe retina
tal or degenerative abnormalities or trauma. from the pars plana at the ora serrata; most
often inferotemporal; superonasal is virtually
HISTORY pathognomonic for trauma {Fig. 9-5).
Giant tear: A tear greater than 90
• Retinal tears are often associated with degrees, spontaneous or posttraumatic
floaters and flashing lights (photopsia). (Fig.9-6).
346
Retinal Break or Tear 34 7
Stretch/necrotic tears: Traumatic tears • Contact lens examination of the periphery

of variable size, often irregular in orienta- may help confirm the presence and nature of
tion with jagged edges; hemorrhage or the break.
other signs of trauma (Fig. 9-7).
PROGNOSIS AND
ASSOCIATED MANAGEMENT
CLINICAL SIGNS
• The risk of developing RD (and, there-
• Look for predisposing conditions (see ear- fore, indication for prophylactic treatment)
lier discussion) depends on the type of break present.
Symptomatic tears with persistent traction
• Pigment cells in the vitreous ("tobacco
(horseshoe tears, giant tears) have a high
dust")
risk of subsequent RD and are treated when
• 7096 with hemorrhagic posterior vitreous recognized. Asymptomatic flap tears have
detachment (PVD) a lower risk but are often prophylactically
• Vitreous hemorrhage [tears are found in treated. Symptomatic operculated tears also
70% of patients with hemorrhagic prolifera- have a much lower risk of subsequent RD.
tive vitreoretinopathy (PVR) J • Treatment is more controversial. Dialysis
• Subretinal fluid accumulating around the tear and other posttraumatic tears are generally
• Pigment around the base of the retinal treated when recognized. Treatment for
break (indicates chronicity) atrophic breaks, asymptomatic operculated
tears, and breaks with pigment around them
almost never require prophylactic treatment.
DIFFERENTIAL DIAGNOSIS Exceptions might include patients with a
history of RD of the fellow eye, anticipated
• Vitreoretinal tuft cataract surgery, or a strong family history of
• Meridional fold or complex retinal tears or RD.
• Outer wall hole in retinoschisis • Treatment options include cryotherapy
• Cobblestone degeneration or laserphotocoagulation (Figs. 9-8-9-10).
Development of the indirect ophthalmo-
• Lattice degeneration
scopic laser delivery system has facilitated the
use oflaser treatment and reduced the need
DIAGNOSTIC EVALUATION for cryotherapy, which generally produces
more pain during treatment. Patients with
• Indirect ophthalmoscopy with scleral cloudy media or significant subretinal fluid
depression is critical. may be better treated with cryotherapy.
348 9 PERIPHERAL RETINAL DISEASE
FIGURB ,..1. Posteriorvitnou detachment (PVD). A. Annulus of condensed vitreous (Weiss ring) (arrow)
fioat:iDg in front of the optic: disc: after PVD. B. Photograph focused on Weiss ring.
RetinalBreakorTear 349
FIG'UBB 9-2. Ranuhoe retinal tar. A. Hmseshoe tear with a few fleck& ofhemorthage and a am.all amount of
aubretinal iuid aurrounding it. B. Large honeshoe tear with a bridging retinal vessel.
(continued)
FIGURB 9-2. (Continued) Hoaethoe ntinal tear. C. Horseah.oe tear with auodated retinal hemorrhages
(arrow). Vitreous elevates the flap tear.
FIGURB 9-3. Opercalated retinal tear.

Retinal Break or Tear 3 51
FIGUllB 9-4. Peripheral. CJSlOid depneration. Peripheral cystoid degeneration with aasodated atrophic
retinal holes.
PIGURB 9-S. R.etim1 dlalpla. Wide-angle view of i.nferotemporal dialym with uaoci.ated retinal detachment.
PIGURB 9-6. Giant ntinal tear. Rolled edge ofa giant retinal tear.
FIGUllB 9-7. Poattraumatic retinal teu. A. Stretch tear after blunt t:rawn.a (arrow• to retinal detachment).
(continued)
Retinal Break or Tear 3 5 3
PIGUR.B 9-7. (Continued) Pcmtraumatk: retb:W tear. B. Two stretch tears after blunt trauma. C. 'Thlumatic
macu1ar hole.
FIG'CllB 9-8. RdlDa1 tear, pretreatment uul po.u:reatmebt. A. Small horseshoe tear (arrow). B. Immediately
after luer photoc:oagulation.
Retinal Break or Tear 3 5 S
PIGUR.B 9-9. ll.etUW tear, pretreat:me.at and podreatmmt. A. Horseshoe teQ? with briclgj.ng vesael.
B. Immediately after laser photoc:oagulation.
PIGUllB 9-10. Retinal tear, po•ttnatment. A. Horseshoe retinal tear immediately after luer photo-
c:oagulation. B. Several weeks after laser photocoagulation for retinal tear in another patient. Luer m.arb have
become pigmented.
RhegmatogenoUB RetinalDetachment 3 S 7
• Identifying the retinal break (often small

RHBGMATOGENO US and difficult to find) is the key. Pseudophakic
RETINAL DETACHMENT RDs are often caused by small, pinpoint reti-
nal holes at the vitreous base and may be dif-
hegmatogenous RD is a separation of ficult to detect.
the retina from the underlying retinal
pigment epithelium (RPE) by fluid that gains
access to the subretinal space via one or more
ASSOCIATED
full-thickness retinal breaks. CLINICAL SIGNS
• Pigment: Granules in the vitreous are

EPIDEMIOLOGY almost always seen. Hyperpigmentation or
AND ETIOLOGY loss ofpigment at the RPE is common, espe-
cially in chronic RD. Linear pigment ("demar-
• Epidemiology is the same as that for reti- cation line") suggests chronicity and may be
nal breaks since, by definition, a retinal break multiple (Fig. 9-12).
is present and the cause of the RD. • Hypotony: Relative to the fellow eye. 'Ihis
• Retinal breaks develop into rbegmatog- is not invariably present. In chronic rheg-
enous RD by a combination ofvitreoretinal matogenous RD, pressure may be normal or
traction and fluid currents that cause vitreous even high.
fluid to move through the retinal break(s) • Other features ofchronic RD: Retinal
and overcome the normal attractive forces neovascularization, cataract, anterior uveitis,
between the photoreceptors and the RPE. rubeosis iridis, and retinal cysts (Fig. 9-13).
HISTORY DIFFERENTIAL DIAGNOSIS
• There is a progressive loss ofthe visual • Retinoschisis

field (often described as a curtain or shadow • Exudative RD
blocking the vision), frequently accompanied
• Tractional RD
or preceded by floaters and :flashing lights.
• Choroidal detachment
• Patients with peripheral RDs may be asymp-
tomatic or simply have flashes and floaters.
IMPORTANT
• Indirect ophthalmoscopy with scleral
CLINICAL SIGNS depression is the key. Contact lens examina-
tion may help find small peripheral retinal
• In addition to identifying the retinal breaks.
break(s), the retina is seen to be elevated by
• Slit-lamp examination ofthe anterior vitre-
subretinal fluid (Fig. 9·11). 1he retina loses
ous confirms vitreous pigment.
its transparency to a variable degree, often
becoming translucent with a corrugated • B-scan ultrasonography confirms retinal
appearance. There is undulation with eye elevation in cases with media opacities.
movement. Chronic rhegmatogenous RD • Examine the fellow eye to look for
may appear transparent and not undulate. retinoschisis.
3S8 9 PERIPHERAL RETINAL DISEASE
PROGNOSIS phakic RDs with a single, superior retinal

break without vitreous hemorrhage, exten-
• Chronic, asymptomatic RD may remain sive lattice degeneration, or early PVR do
stationary and not require treatment. best. This relatively noninvasive, low-cost,
• Spontaneous regression of RD can occur quick-recovery office procedure is gaining in
but is rare (Fig. 9-14). acceptance.
• Most RDs and virtually all symptomatic • Temporary balloon: This treatment con-
detachments will progress, causing severe sists of an external device applied via small
permanent visual loss if untreated. Visual conjunctiva! incisions. The balloon temporar-
potential is directly related to the presence ily indents the sclera to allow cryotherapy or a
and duration of macular involvement laser-induced chorioretinal adhesion to form.
(Fig. 9-lS). This treatment option is especially useful for
inferior RD when pneumatic retinopexy is
• RDs not involving the macula often
not an option; however, it is not a widely used
recover vision fully.
technique.
• "Macula-off" RDs usually lead to per-
• Scleral buckle: This widely applied tech-
manent reduction of central vision even
nique consists of indentation of the sclera
when repaired properly. Recovery often
using a flexible silicone sponge or strip that is
takes months, and the degree of recovery
permanently sutured on or within the sclera
diminishes with longer periods of macular
to relieve vitreoretinal traction on the retinal
detachment.
break(s). Cryotherapy is generally used to
create permanent adhesion although postop-
Management erative laser therapy can be applied. Drainage
• Laser photocoagulation: Used alone it has of subretinal fluid or injection of intravitreal
a limited role in management of RD. Usually gas, or both, are also sometimes performed to
it cannot seal a retinal break closed in the assist in reattachment. Success rates of over
presence of subretinal fluid. Laser treatment 95% have been reported for repair of primary
may be used to create a barrier ("wall off the RD. Side effects and complications of the
detachment") to prevent progression of the scleral buckle include:
detachment. It is especially useful in chronic Pain
inferior RD or in cases where systemic illness
Infection
prevents more definitive repair.
Hemorrhage (especially with drainage
• Cryotherapy (see preceding discussion of
of subretinalfluid; Fig. 9-16)
Laser Photocoagulation): Occasionally RDs
Retinal incarceration at drainage site
with very shallow fluid around the retinal
break can be cured by treating the break with (Fig. 9-17)
cryotherapy alone. Induced myopia
• Pneumatic retinopexy: An intravitreal gas Diplopia
bubble is used to tamponade the retinal break Extrusion or intrusion (Fig. 9-18)
closed temporarily. The subretinal fluid will
Anterior segment ischemia
resolve and either laser photocoagulation or
cryotherapy is used to permanently close the Ptosis
retinal break(s). The success rate is high and • Vitrectomy: This technique is increas-
varies with patient selection. Patients with ingly used in managing primary RD with or
Rhegmatogenous Retinal Debchment 3 59
without a scleral buckle. It allows for direct Elevated intraocular pressure

release ofvitreoretinal traction. Intravitreal Cataract
gas or silicone oil is used to tamponade the
Dislocation of intraocular lens
retina while retinopexy with laser or cryo-
therapy takes effect. Vitrectomy is especially Infection
useful for RDs with posterior breaks, PVR, Hemorrhage
vitreous hemorrhage, or a tight orbit prevent- Postoperative positioning (e.g.,
ing scleral buckle. Side effects and complica- face-down) may be needed
tions ofvitrectomy include:
PIGUR.B 9-11. Rhegmatogaou retinal detadament (RD). A. Rhegmatogenow RD with a small horseshoe
tear (arrow).
(conmaued)
FIGVllB 9-11. ( Continaud) llhegmatopnom retinal clmcltment (B.D). B. RD with bullom elevation and
corrugated appearance of the det.a.ched retina. C. RD with a small honeshoe tear (11rrow).
FIG'UJlB 9-12. Rhegmat.ogeaou JU>, dlronlc. A. ChroDk RD (right ofarrows) with pigmented deman:ation
line (arrows). B. Chronic RD (blad: arrow) with multiple demarcation lines and tome 1ubretin.al fibrous band1
(white arrows).
PIGUll.B 9-13. Rhepaatogeaou JU>, dironk. A. Retinal cysts associated with chronic RD. B. B-scan
ultruound of retinal cyst (&hart arrow) and c:hronic RD (long arrow).
FIGURP. 9-14. IUMgmatopnou RD, regntNd. Pigmentation from spontaneously regressed RD.
FIGURB 9-15. Rhep.atopnoua JU>, pigmentary climlrbllD.ca. Subretinal dispersion of pigment after repair
of "macula-off" RD.
FIGVllB 9-16. RhegmatogettDU.1 JU>, -bretlnal hemorrhage. A. Subretinal hemorrhage beneath the attached
retina associated with drainage of subretinal fiuid during scleral buc:kling surgery. B. Mac:ular extenaion of
subret:inal blood complicating drainage ofaubret:inal fluid.
Rhegmatogenous Retinal Debchment 36 S
PIGURB 9- 17. Rhegmatogenou RD, ntlm1 l.n.cuc:cratton. Incarceration of the retina into the drainage lite
during scleral buckle.
FIGUllB 9-18. Sdenl backle. Bztruding scleral buckle.

• PVR may be primary or develop

PROLIFERATIVE after attempted repair ofRD. It tends to
VITREORBTINOPATHY occur 3 weeks to 3 months after initial
repair.
• PVR refers to the development ofprereti-
nal, subretinal, and even intraretinal fibrous
proliferation that induces traction and dis- HISTORY
tortion ofthe retina in the presence of RD
(Table9-l). • The same as for RD.
EPIDEMIOLOGY IMPORTANT
AND ETIOLOGY CLINICAL SIGNS
• In the presence ofRD, activation of • 'Ihe retina is relatively immobile with fixed
vitreous glial cells and metaplasia ofretinal folds.
pigment epithelial cells produces fibrous • Rolled edges ofthe retinal break(s) and
tissue that proliferates on and under the extensive pigment in vitreous, on and under
retina. retina are noted (Fig. 9-19).
• Although the mechanism is not totally • Vitreous bands are prominent.
understood, risk factors include RDs with
multiple retinal breaks, large retinal breaks,
chronici~ vitreous hemorrhage, and ASSOCIATED
trauma. CLINICAL SIGNS
TABLE 9-1. Classification of Proliferative • Hypotony

Vitreoretinopathy • Anterior flare or uveitis
Grade A Vitreous haze, vitreous pigment clwnps, • Rubeosis iridis
and pigment clusters inferior to retina
Grade B hmer retinal wrinkling, retinal stiffuess, DIFFERENTIAL DIAGNOSIS
vessel tortuosity, rolled edge ofbreak,
and decreased vitreous mobility
• Purely tractional RD (e.g., diabetic reti-
Grade C P (posterior)- expressed in the nopathy; Fig. 9-20)
number ofclock hours involved ( 1-12)
• Exudative RD
Focal, diffuse, or circumferential full-
thickness folds, subretinal rnands
A (anterlor)- apressed in the number DIAGNOSTIC EVALUATION
of clockhours involved ( 1-12)
Focal, diffuse, or circumfurential full- • Diagnosis is based on indirect
thickness folds; subretinal strands; ophthalmoscopy.
condensed vitreous; and anterior • Ultrasound may show the rigid nature
displacement ofvitreous base with ofRD if detachment cannot be directly
anterior trough.
visualized.
Proliferative Vitreoretinopathy 36 7
PROGNOSIS AND • Repair almost always includes vitrectomy,

MANAGEMENT often with a high encircling scleral buckle as
well as a long-lasting vitreous gas or silicone
• PVR almost always progresses, causing oil tamponade.
severe visual loss. Repair is difficult, • Recurrence rate is high, and recovery of
especially for more advanced degrees of excellent visual acuity is uncommon in severe
PVR (see Table 9-1). cases (Figs. 9-21and9-22).
PIG'UllE 9-19. Pl'ollfentive 'Vltreoret.inopeth (PVR.). A. High magnification view of PVR with radiating
retinal folds. B. Wide field view showing retinal folds radiating from optic dhc.
Prolikrative Vitreoretinopathy 3 6 9
PIGUllE 9-20. Tnctional JU> aNodate4 with proliferative diabetic.: ntlnopdhy. Wide-field view of traction
retinal detachment with regreued neovaaculamatlon producing a ring offibrotic traction.
FIGUJlB 9-21. PVll, rec:ureat RD. Recurrent RD with severe PVR.. Note 1evere 6.brom proliferation on the
retinal smface and auociated retinal breaks.
Prolikrative Vitreoretinopathy 3 71
PIGUllB ~22. PVll, bed ntlnal fo!U. A. PVR with macular pucker (long arrow) after vitrectomy and sc:leral
buckle for RD. Note the edge of the slowly clearingvitreow gu bubble (short llTTOW) wed during the initial
repair. B. Inferior proliferation causing tractional elevation of the retina (mTOW).
inheritance, consists ofvitreoretinopathy with

LATTICE DEGENERATION arthropathy and other systemic features.
attice degeneration is a peripheral fundus • Retinal breaks: Atrophic round holes
are often present within the lattice
abnormality consisting ofretinal thinning
with loss of inner retinal tissue and unusually degeneration, sometimes with associated
strong vitreoretinal adhesion at the edges of subretinal fluid. Tractional flap tears may
the retinal excavation. occur, usually at the edges ofthe lattice
(Fig.9-U).
EPIDEMIOLOGY
AND ETIOLOGY DIFFERENTIAL DIAGNOSIS
• Tue condition is common, occurring in • Cobblestone degeneration

about 896 ofthe population. It is more common • Cystoid degeneration
and more extensive in patients with myopia.
• Retinoschisis
• Vitreoretinal tuft
HISTORY
• Pigmented or atrophic chorioretinal
scars
• Patients are asymptomatic except when
the condition is associated with retinal tear • Grouped pigmentation
and detachment formation.
IMPORTANT
CLINICAL SIGNS • Indirect ophthalmoscopy is performed
with scleral depression.
• Lattice degeneration can be variable in • Peripheral contact lens examination may
pigmentation, circumferential extent, and help con.firm the presence of associated
orientation (usually concentric with ora tears.
serrata but may be radial or perivascular)
(Pig. 9-23).
PROGNOSIS AND
• Cross-hatched white lines, which give the
MANAGEMENT
appearance of a lattice, are often not present.
Indirect ophthalmoscopy is usually necessary
• Usually this condition is ofno clinical
to see lattice degeneration.
signifi.cance.
• Dynamic scleral depression is the key to
• The risk of RD increases with the extent
appreciating the inner retinal excavation.
oflattice degeneration. Prophylactic treat-
ment {laser or cryotherapy) generally is not
ASSOCIATED indicated except ifthe fellow eye had lattice-
CLINICAL SIGNS related RD.
• A strong family history of retinal tear
• Myopia or RD or anticipated intraocular surgery
• Stickler's syndrome: 1his syndrome, are other possible considerations for
which bas an autosomal-dom.in.ant treatment.
Lattice Degeneration 37 3
FIGURB 9-23. Pipuuatecl lattice clepneration. Note the lattice-lib network within the a1ft of increased
pigmentation.
FIGURB 9-24. Lattlce degeneration with ulOdated h01'1•ho• tar ancl RD (orrow). A horseshoe tear at the
edge oflattice red.ec:ta :firm vitreo.retinal adhesion at the edge of the lattice degeneration.
discrete retinal elevation (Fig. 9-25). 'Ihere

VITREORETINAL TUFT may be pigment around the tuft. 'They often
AND MERIDIONAL FOLD are mistaken for small flap tears, but no full-
thickness break is present.
' 71treoretinal tuft and meridional fold are
• Meridional folds are folds of redundant
Ycommon structural abnormalities of
retina (Fig. 9-26). Most often superonasal,
the extreme retinal periphery with unusually
they may straddle and are perpendicular
strong vitreoretinal adhesion. They are infre-
to the ora serrata. Small retinal breaks may
quently the cause ofrhegmatogenous RD.
develop at their posterior end.
EPIDEMIOLOGY
AND ETIOLOGY
• Retinal tear
• Vitreoretinal tufts are very common in the
• •snowball" or other inflammatory
general population and are the source ofRD
precipitate
in less than 196 of all affected patients.
• Meridional folds are very common in the
general population and are the source of RD PROGNOSIS AND
in less than 196 of all affected patients. MANAGEMENT
• 1hey are a developmental abnormality.
• Both abnormalities are almost
always incidental findings of no clinical
HISTORY importance.
• Rarely, they may be the only abnormal
• 1he abnormalities are asymptomatic
finding in cases ofRD and are presumed to
except when they precipitate RD.
be the cause ofthe detachment.
• 1hey are generally treated with cryother-
IMPORTANT apy or laser photocoagulation at the time of
CLINICAL SIGNS RD repair, but prophylactic treatment is not
warranted.
• Vitreoretinal tufts are small areas of sub-
stantial focal vitreous traction producing a
Vrt:reoretinal Tuft and Meridional Fold 37 S
FIGURB 9-25. Vltreontinal taft. Focal opadfi.cation and elevation of the retina occ:urs at two gray-white
vitreoretinal tufts.
PIGUim 9-26. Schematic of merlc11onal fold. 'Ihe fold represenb a pleat of retina between the ora bays.
• Often a pigmented halo is noted.

COBBLESTONE
• The degeneration is most common inferi-
DEGENERATION orly and is usually bilateral.
obblestone degeneration, also called pav~
C ing stone degeneration, describes dis-
crete circular areas ofperipheral atrophy ofthe
retina, RPE, and choriocapillaris. • Retinal breaks

EPIDEMIOLOGY • Congenital hypertrophy ofRPE

AND ETIOLOGY
• 1his is a degenerative process of unknown
etiology. • Diagnosis is based on indirect
• The condition is more common in the ophthalmoscopy.
elderly.
PROGNOSIS AND
HISTORY MANAGEMENT
• Patients are usually asymptomatic. • Cobblestone degeneration is ofno clinical

importance. It is not a predisposing condition
for RD and, in fact, may be protective against
IMPORTANT
a progressive RD.
CLINICAL SIGNS
• Circular areas of thinning of the retina

with depigmentation are seen (Fig. 9·27).
Cobblestone Degeneration 37 7
PIGURB 9-27. Cobblatoae (paw.g atone) degeD.eration. Areu of pigmentation are observed within the
diac:rete areas of deptgmentation.
378 9 PERlPHERAL RETINAL DISEASE
PERIPHERAL GROUPED
• Chorioretinal scar
PIGMENTATION
• Important: Peripheral grouped
eripheral grouped pigmentation describes pigmentation must be distinguished from
P a cluster of flat, discrete pigmented spots
deep to retina.
the pigmented spots in the fundus that
are seen in familial polyposis (Gardner's
syndrome). This autosomal-dominant
condition, which is usually asymptomatic,
EPIDEMIOLOGY often includes .flat, variably pigmented
AND ETIOLOGY spots in the fundus. Lesions of Gardner's
syndrome tend to be more oval, with
• It may occur at any age, in both genders. an irregularly pigmented "'comet's tail"
• This is a congenital abnormality. (Fig. 9-29). Affected patients have a very
high risk of colonic carcinoma. Fundus
lesions in Gardner's syndrome are usually
HISTORY
seen as early as infancy. For patients with a
positive family history, the presence offundus
• Patients are usually asymptomatic.
lesions is virtually diagnostic ofthe systemic
syndrome.
IMPORTANT
CLINICAL SIGNS DIAGNOSTIC EVALUATION
• A cluster offlat, uniformly pigmented spots • Diagnosis is based on indirect
ofvariable size are often noted (Fig. 9-28). ophthalmoscopy.
These are also known as "bear tracks" because
• For suspicious lesions (see preced-
oftheir paw-print appearance. Rarely, the pig-
ing discussion), obtain a family history of
mentation is bilateral
gastrointestinal malignancy and consider
colonoscopy.
ASSOCIATED
• There are no signs ofinflammation, fluid,
MANAGEMENT
or elevation.
• Peripheral grouped pigmentation is ofno
clinical importance with no potential for RD
DIFFERENTIAL DIAGNOSIS or malignant transformation.
• Cobblestone degeneration
• Choroidal nevus or melanoma
Periphenl Grouped Pigmentation 37 9
PIGURB 9-21. Groaped pigmentation. Small clump of grouped pigmentation ("bear tracb"; imet) have
little rlsk of malignant transformation.
FIGURE 9-29. Pigmented fun.du lesion.a uaoc:iated with Gardner'a ayndro.me. Note the depigmented halo
(arrowhead) and oblong shape of the lesion.
• Detection of an intact, overlying, inner

DEGENERATIVE layer is facilitated by noting retinal vessels
RBTINOSCHISIS coursing over the hole.
• An absolute visual field defect corresponds
• Degenerative retinoschisis is a splitting of
to the area of retinoschisis.
the retina that produces elevation ofthe inner
retina, mimicking a detachment.
EPIDEMIOLOGY
AND ETIOLOGY • Rhegmatogenous RD: 'Ihe presence ofa ret-
inal break, corrugations, undulations, pigment
• 'Ihe condition is a degenerative process in vitreous or demarcation lines, symptoms,
that begins with peripheral cystoid degenera- hypotony; and a fellow eye that is normal help
tion. Further splitting in the outer plexiform distinguish this condition from retinoschisis.
layer leads to the elevation noted clinically. • Exudative RD: Associated tumor or
• Degenerative retinoschisis affects both inflammatory signs, shifting fluid, and symp-
genders and all races. toms suggest this etiology.
• Juvenile retinoschisis (X-linked): This
heritable condition produces a stellate foveal
HISTORY
appearance with splitting neurosensory retina
within the nerve fiber layer. It may present as
• Patients are asymptomatic except in rare
vitreous hemorrhage.
cases ofprogressive RD.

CLINICAL SIGNS
• Evaluation consists ofindirect ophthal-
moscopy with scleral depression and contact
• A transparent dome-shaped elevation of
lens examination.
peripheral retina may he easily overlooked
(Fig. 9-30). • 'Ihe fellow eye should also be examined.
• A thin, <:y5tiC appearance is noted.
PROGNOSIS AND
• The inferotemporal fundus is most often
affected. In the majority of cases the condi-
MANAGEMENT
tion is bilateral.
• Degenerative retinoschisis rarely produces
• 'Ihe retina is immobile, and there is no asso- vision loss. Progression to posterior retina or
ciated pigmentation ofthe RPB or vitreous. development oftrue rhegmatogenous detach-
ment is uncommon.
ASSOCIATED • Outer wall defects usually are easily
CLINICAL SIGNS detected, but inner wall breaks are difficult to
identify. In cases ofvery posterior retinoschi-
• White "snowflakes· on the underside sis with progression, outer wall breaks may
ofthe inner retinal layer or a pockmarked be surrounded with laser treatment
appearance may be noted. (Fig. 9-32).
• Outer wall holes are circular, and there are • H the outer layer is detached as well, then
sometimes multiple defects (Fig. 9-31). surgery; usually vit:rect:omy, is needed.
Degenerative Retinoschisis 3 81
/
/
PIGUllB 9-30. Peripheral ntlnolCbida. A. Note the smooth, dome-shaped elevation In the inferotemporal
quadrant (m711w1). Degen.eratin retino•c:ldm B. Wide-angle photograph ofinferotemporal retinosc;:hisis
(lower left). 'Ihe external transillumination is noted (directly left).
FIGURE 9-31. Depnerathe ntlnOKhishl, oater wall breab. Outer wall bola aa1odated with retin01chisi•
(inset) are required to came a retinoschi1i1-as:soc:iated retinal detadmient. Not2 that the inner-layer retinal
ve11eh c:oune over the outer-layer retinal hole1.
FIGUllB 9-32. Degenerative ntln0Klml1, oater wall breab. Luer treatment (arrows) surrounding outer
wall holes ( uteri1b) in .ret:inoschim.
Emdative Retinal Detachment 3 8 3
..,. Choroidal metastasis

EXUDATIVE RETINAL
..,. Retinoblastoma
DETACHMENT
• Miscellaneous
xudative RD describes elevation of the ... Bullous central serous choroidopathy
E retina by fluid that leaks from with.in or
under the retina.
..,. Uveal effusion syndrome
..,. NanophthaJmos
"' Coloboma
EPIDEMIOLOGY
AND ETIOLOGY HISTORY
• By definition, the retinal elevation is not • Patients experience a progressive, often
due to a retinal break. ftuctuating loss of peripheral vision, that is
• Breakdown ofthe normal inner (retinal similar to rhegmatogenous RD, but often
vascular endothelial cells} or outer blood- more variable in course.
retinal barrier (RPE) produces exudation of • Visual changes may be positional, caused
fluid, elevating the retina. by shifting subretinal fluid with changes in
• Cases can be divided into one offour cat- head position.
egories, as follows: • Ifinflammatory in nature, the condition may
• Inflammatory cause pain; however, it is often asymptomatic.
... Scleritis
... Harada's disease IMPORTANT
Ill> Sympathetic ophthalmia CLINICAL SIGNS
... Orbital pseudotumor and other
• There is a dome-shaped elevation of
orbital inflammation
the retina, which retains its transparency
"' Infectious retinochoroiditis (e.g., (Fig. 9-35).
toxoplasmosis, syphilis, Lyme disease,
• The subretinal fluid generally shifts to
bartonellosis)
the most gravity-dependent position with
"' Vasculitis or autoimmune (e.g., changes in the patient's bead position.
lupus, polyarteritis nodosa)
va.cular ASSOCIATED
... Coats' disease (Fig. 9-33) CLINICAL SIGNS
"' Retinal capillary hemangioma
Ill> Acute systemic hypertension • Observe for features ofthe underlying
cause, such as infiammation, vascular changes,
111> Eclampsia
or solid tumor (see Fig. 9~34).
... Disseminated intravascular coagula-
tion (DIC)
"' Renal failure
Neoplastic • Rhegmatogenous RD (especially chronic
Ill> Choroidal melanoma (Fig. 9-34) with small retinal break) differential diagnosis
3 84 9 PERIPHERAL RETINAL DISEASE
• Retinoschisis Calcification suggests retinoblastoma.

• Choroidal detachment Identify features of choroidal tumor or
thickening.
• A-scan ultrasound: Short axial length is
typical of nanophthalmos.
• Fluorescein angiography: Often
shows source(s) of subretinal fluid and the PROGNOSIS AND
nature of the defect causing it (see discus- MANAGEMENT
sion under "Epidemiology and Etiology,"
earlier). • The prognosis varies markedly, depend-
• B-scan ultrasound: Thickening of sclera ing on the underlying etiology. Treatment
is seen in scleritis or orbital inflammation. depends on the underlying cause.
Emdmve Retinal Detachment 3 8 S
FIGURB 9-33. &:a.dattn RD ulOCiatecl with Coat:s1 dlMaH (GITOW). Note the Nbretinal lipid predpitatea
where the emdative RD is shallower.
FIGURB 9-34. Jmulatt- RD cnulJing choroldal melanoma with retinal henaorrhaga. 'Ibis smooth, dome·
thaped elevation utends beyond the c:horoidal melanoma.
nerve and macula. H elevations are very large,

CHOROIDAL they may contact each other in vitreous cavity
DETACHMENT ("'kissing choroidals•).
C horoidal detachment refers to elevation

of the retina and choroid by either accu-
mulation ofserous fluid or blood in the supra-
ASSOCIATED
CLINICAL SIGNS
choroidal space.
• Hypotony
EPIDEMIOLOGY • Marked elevation ofintraocular pressure
(hemorrhagic choroidals)
AND ETIOLOGY
• Vitreous hemorrhage
• Serous choroidal detachment is gener- • Retinal folds or detachment
ally a secondary effect of another underlying • Shallow anterior chamber
problem.
• Causes include:
Hypo tony
Wound leak • Choroidal melanoma
Postglaucoma swgery • Choroidal metastasis
Cyclodialysis cleft • RD
Inflammation • Retinoschisis
High scleral buckle • Scleral buckle
• Hemorrhagic choroidal detachment may
occur spontaneously, intraoperatively after DIAGNOSTIC EVALUATION
trauma, or as the result ofvascular abnormali-
ties such as choroidal neovascularization. • H choroidal detachment is associated with
hypotony, look for the cause (e.g., gonioscopy
HISTORY for cyclodialysis cleft).
• B-scan ultrasonography confirms
• Occurrence of a visual field defect or
the diagnosis and helps distinguish
shadow may be gradual or sudden in onset.
between serous and hemorrhagic detach-
• There may be associated severe pain, if ment. It also will show evidence of
hemorrhagic. inflammation of the sclera or orbit, and
can help distinguish detachment from
IMPORTANT neoplasm.
CLINICAL SIGNS
• A dome-shaped elevation ofthe retina and PROGNOSIS AND

choroid is noted. The retina and choroid may MANAGEMENT
appear normal in every way except for their
relative position within the eye. • The prognosis for patients with serous
• Hlarge enough, the detachment may choroidal detachment is generally favorable
obstruct the examiner's view ofthe optic if the underlying etiology can be reversed.
Choroidal Detachment 387
Restoration of normal intraocular pressure • Ifthe vitreous or retina is adherent to

and eradication of inflammation are gener- anterior structures such as a cataract wound,
ally adequate to reverse this process. vitrectomy is indicated or else RD will occur
• Hemorrhagic detachment can produce as the choroidal detachment resolves.
severe pain or marked elevation of intraocular • Surgical drainage is usually recommended
pressure requiring prompt surgical drainage. for "kissing choroidals," although the neces-
Otherwise, the condition can generally be sity and optimal timing ofthis procedure are
observed and will slowly resolve. controversial.
FIGURE 9-35. :Bddatne RD. 'Ihil detachment e:r.:hibited shifting subret:inal fluid with change of poaition.
_____ Index
.__
Note: Page numbers followed byf and tindicate figures and tables, respectively.
prognosis for, 3-4 Antithrombin III deficiency, 134, 143,
A
ABCR. &e ATP-binding transport wet or emdative, 1, 17-43, 21f-24f, 145,150,167
protein 40f-43f Anti-VEGF injection therapy, 20,
AIDS. See Acquired immunodeficiency 40f-43f
Abetalipoproteinemia. See Bassen-
syndrome AREDS. See Age-related eye disease
Komzweig syndrome
Albinism, 223-227, 224f study
Acetazolamide, for retinitis
pigmentosa, 229 causes of, 223 Arteriolar attenuation, 230f-231f,
classification of, 223 233,312
Achromatopsia, 312
clinical signs of, 223 Astrocytic hamartoma, 240-242, 242f
Acquired immunodeficiency syndrome
diagnostic evaluation of, 224 causes of, 240
{AIDS), 134
and intraocular lymphoma, 269 epidemiology of, 223 clinital signs of, 240-241
female carrier, 226/ diagnostic evaluation of, 241
Acute ophthalmic artery obstruction,
foveal hypoplasia, 225f differential diagnosis of, 241
153-154, 155/
Hermansky-Pudlak syndrome, 227/ epidemiology of, 240
diagnostic evaluation of
histology of, 223-224 history of, 240
electroretinography, 154
management of, 224 prognosis for, 241
.fluorescein angiography, 153-154
ocular,223 management of, 241
differential diagnosis of, 153t
symptoms of, 153 oculocutaneous,223,227f ATP-binding transport prob:in
Acute pancreatitis, 134 prognosis for, 224 (ABCR),203
true,223 AtrophicAMD, l4f-15f
Adult foveomacular dystrophy, 3
Albinoidism, 223 Atrophic retinal break, 346, 35lf
Adult vitellifonn dystrophy, SO
Allelic inactivation, 243 AtrophyofRPE, 2, 218f
Aneurysms, 172, 295, 299
chroidal, 19 Alpert's syndrome, 294 Avulsed vitreous base, 318, 318/
AMD. See Age-related macular causes of, 318
intraretinal, 25 lf
degeneration clinical signs of, 318
macro, 172, 173
Amelanotic choroidal melanoma, 78, diagnostic evaluation of, 318
micro, 10lf-102f, 105, 108/-109/,
117.f.158, 16lf, 166, 172, 182,
264, 267, 269, 271 differential diagnosis of, 318
Amsler grids, 3, 16.£ 17 epidemiology of, 318
188,f, 194f, 294, 297/
ofmacular epiretinal membranes, 45 history of, 318
Age-relatm eye disease study {AREDS), 4
scotoma formation and, 341 nasal, 318f
Age-related macular degeneration
{AMD),68 Anemia,72,96,316,321 prognosis for, 318
severe, 134 management of, 318
atrophic, 14/-15/
• •
Angiographic CME, 60
basal laminar deposits, 2
basal linear deposits, 2 Angioid streaks, 72-77, 73f-77f, 316
with calcific drusen, 2 causes of, 72 Bardet-Biedl syndrome, 234
clinical signs of, 72 Basal laminar deposits, in dry age-
causes of, 2
clinical signs of, 3 diagnostic evaluation of, 72-73 related macular degeneration, 2
with CNY, 64, 65 differential diagnosis of, 72 Basal laminar drusen, 1, 6f
diagnosis of, 3 epidemiology of, 72 Basal linear deposits, in dry age-related
fluorescein angiography for, 72 macular degeneration, 2
differential diagnosis of, 3
history of, 72 Bassen-Komzweig syndrome, 233
disciform scar of, 271
idiopathic, 72 Batten disease. Set Neuronal ceroid
drusen, 2, Sf
laser photocoagulation for, 73 lipofuscinosis
dry/nonexudative,1-16
management of, 73 BB pellet, 331
epidemiology of, 1, 2
manifestations in, 73 Beaten bronze appearance, in Stargardt's
emdative, 17-43, 21/-24.f
ocular photodynamic therapy for, 73 disease, 203, 206f-207f
.fluorescein angiographic pattern, 2-3
prognosis for, 73 Best's disease, 3, 189-194
with focal hyperpigmentation, 4
safety glasses for, 73 causes of, 189
fundus biomicroscopy images, 2, 3
Angiomatosis retinae. See Retinal clinical signs of
history of, 2
capillary hemangioma end stage, 190
irregular granular appearance in, 2
management of, 3-4 Anterior ischemic optic neuropathy, previtelliform stage, 189
142-143, 144.f pseudohypopyon stage, 189-190
with multiple drusen, 2
Antiplatelet therapy, for ocular ischemic vitelliform stage, 189
OCTof,3
pathology of, 2 syndrome, 159 vitelliruptive stage, 190
389
390 INDEX
Best's disease (continued) differential diagnosis of, 203 prognosis for, 150
diagnostic evaluation of, 190 in Stargardt's disease, 203, 207/ pupillary changes in, 149
epidemi.ology of, 189 superficial retinal whitening in, 149
management of, 190 c visual acuity in, 149
prognosis for, 190 Calcified drusen, 1 Central retinal vein obstruction, 142,
pseudo, 194f Canthuanthin toxicity, 338 156, 158, 166-171
pseudohypopyon stage, 192f CAR. See Carcinoma-assodated causes of, 166
vitelliform stage, 189, 191f retinopathy syndrome clinical signs of, 166
vitelliruptive stage, 193f Cardnoma-associated retinopathy diagnostic evaluation of, 166-167
Bevacizumab, 20, 98, lllf, 131/, (CAR) syndrome, 236-239, differential diagnosis of, 166, 167t
137,276 238J239f epidemiology of, 166
Black sunburst lesion, in sickle cell causes of, 236 ischemic, 166-167, 169f-171f
retinopathy, 178, l 79f clinical signs of, 236 nonischemic, 166, l68f
Bloch-Sulzberger syndrome. See cone dysfunction, 236 pathophysiology of, 166
Incontinentia pigmenti fundus features, 236 management of, 167
Blot hemorrhages, in nonproliferative rod dysfunction, 236 prognosis for, 167
diabetic retinopathy, 95 diagnostic evaluation of, 236-237 Central serous choroidopathy, 64
Blurred vision, 259, 264 differential diagnosis of, 236 bullous, 383
Bourneville's disease. SeeAstrocytic epidemiology of, 236 Central serous retinopathy (CSR), 19,
hamartoma history of, 236 50, 78-88, 79/-88/, 267, 268/
Brachytherapy, and radiation management of, 237 anti-VEGF therapy, 79
retinopathy, 182, 186/ prognosis for, 23 7 causes of, 78
Branch retinal artery obstruction, Carotid arteriography, 159 clinical signs of, 78
146/-148/ Carotid artery stenosis, 159t diagnostic evaluation of, 78-79
causes of, 145 Carotid, blockage of, 158 differential diagnosis of, 78
cholesterol (Hollenhorst plaque) CAR syndrome. See Cardnoma- diffuse abnormality of retinal
in, 145 associated retinopathy pigment epithelium in, 78
clacific, 145 syndrome epidemiology of, 78
clinical signs of, 145 Cataract surgery fluorescein angiography for, 78-79
diagnostic evaluation of, 145 choroidal detachment after, 387 gutters ofretinal pigment epithelial
differential diagnosis of, 145 cystoid macular edema after, alterations, 78
epidemiology of, 145 60-61 history of, 78
fibrin-platelet in, 145 Cataracts, in nonproliferative diabetic laser photocoagulation for, 79
fundus changes in, 145 retinopathy, 96 management of, 79
management of, 146 Cellophane maculopathy. See Macular prognosis for, 79
pathophysiology of, 145 epiretinal membrane retinal pigment epithelium
prognosis for, 146 Central retinal artery obstruction, 134, detachment in, 78
pupillary changes in, 145 143, 145, 151/, 153-154, 156 smokestack appearance in, 79
visual acuity in, 145 acute, 150, 15lf type A personality and, 78
Branch retinal vein obstruction, calcific, 149 yellow spots, 78
163-165, 165/ causes of, 149 Chediak-Higashi syndrome, and
causes of, 163 cholesterol (Hollenhorst plaque) albinism, 223
clinical signs of, 163 in, 149 Cherry red spot
diagnostic evaluation of, 163 clinical signs of, 149 in acute ophthalmic artery
differential diagnosis of, 163 with cilioretinal arterial sparing, obstruction, 153
epidemiology of, 163 149, 15lf in central retinal artery obstruction,
management of, 163-164 diagnostic evaluation of, 149 149, 151f
laser photocoagulation, for differential diagnosis of, 149 in combined retinal artery and vein
macular edema, 163-164 digital massage of globe and anterior obstruction, 157/
ranibizumab therapy, for macular chamber for, 150 Chloroquine retinopathy, 341-342,
edema, 164 electroretinography for, 149 342f
sector laser PRP, 164 epidemiology of, 149 clinical signs of, 341
pathophysiology of, 163 fibrin-platelet in, 149 diagnostic evaluation of, 341
prognosis for, 163-164 fundus changes in, 149 differential diagnosis of, 341
Branch Vein Occlusion Study, 164 intravenous fluorescein angiography epidemiology of, 341
Bruch'smembrane,1,2,17,259,316 of, 149 history of, 341
Bull's-eye maculopathy, 195, laser panretinal photocoagulation management of, 341
196f-197f, 203, 234-235, (PRP) for, 150 prognosis for, 341
341,342f management of, 150 subtle parafoveal retinal pigment
in cone dystrophy, 195, 196/-197/ pathophysiology of, 149 epithelial alterations, 342
INDEX 391
Chorioretinal coloboma, 300-303, differential diagnosis of, 262 Choroidal osteoma, 271-272, 272/
301f,302f epidemiology of, 262 causes of, 271
causes of, 300 history of, 262 clinical signs of, 271
clinical signs of, 300 management of, 262 diagnostic evaluation of, 271
diagnostic evaluation of, 300 prognosis for, 262 differential diagnosis of, 271
differential diagnosis of, 300 Choroidal melanoma, 259-261, 261/ epidemiology of, 271
epidemiology of, 300 amelanoti.c, 78 history of, 271
history of, 300 branchytherapyfor, 182, 186f, 247, management of, 271
management of, 300 255 prognosis for, 271
prognosis for, 300 causes of, 259 Choroidal rupture, 316-317
and rhegmatogenous retinal clinical signs of, 259 causes of, 316
detachment, 303f diagnostic evaluation of, 260 clinical signs of, 316
Chorioretinal scarring, 89, 92, 332/ differential diagnosis of, 259 crescent-shaped lesion, 317f
Chorioretinitis sclopetaria, 331-332 epidemiology of, 259 diagnostic evaluation of, 316
causes of, 331 history of, 259 differential diagnosis of, 316
clinical signs of, 331 malignant, 252, 258f epidemiology of, 316
diagnostic evaluation of, 331 management of history of, 316
differential diagnosis of, 331 ocular,260 management of, 316
epidemiology of, 331 systemic, 260 prognosis for, 316
history of, 331 prognosis for, 260 traumatic, 72
management of, 331 Choroidal metastasis, 259, 264--266, Choroidal tumors, 20, 89, 92, 260, 265,
prognosis for, 331 266f, 269, 383, 386 271, 384
retinal whitening and preretinal causes of, 264 Choroideremia, 210-214
hemorrhage, 332f clinical signs of, 264 causes of, 210
Choroidal detachment, 384, diagnostic evaluation of, 265 clinical signs of, 210
386-388 differential diagnosis of, 264-265 diagnostic evaluation of, 210
causes of, 386 epidemiologyof, 264 differential diagnosis of, 210
clinical signs of, 386 history of, 264 early, 213f
diagnostic evaluation of, 386 management of, 265 epidemiology of, 210
differential diagnosis of, 386 prognosis for, 265 history of, 210
epidemiology of, 386 Choroidal neovascularization (CNV), late, 214:f
history of, 386 13f,45, 60, 69.f. 74f, 175-176, prognosis and management of, 211
management of, 386-387 190, 255, 259, 267, 271, 316, retinal pigment epithelial loss, 212/
prognosis for, 386-387 317f, 386 Choroiditis, multifocal, 269
Choroidalfolds, 45, 89-91, 90/-91/ and angioid streaks, 72, 74f-75f Choroidopathy, hypertensive, 136
causes of, 89 choroidal folds, 89 Chronic submacularfluid, 19, 21/
clinical signs of, 89 classic, 18, 21f CHRPE. See Congenital hypertrophy of
crests offolds, 89 CSRin, 78 the retinal pigment epithelium
diagnostic evaluation of, 89 in degenerative myopia, 67, Cicatricial retinopathy ofprematurity,
differential diagnosis of, 89 68/-71/ 275,281/
epidemiology of, 89 and dry age-related macular Cilioretinal artery obstruction,
B.uorescein angiography for, 89 degeneration,3,3t 142-144, 144/
history of, 89 and exudative age-related macular causes of, 142
Choroidal granuloma, 265 degeneration, 17 clinical signs of, 142
Choroidalhemangioma, 267-268 fibrovascular pigment epithelial diagnostic evaluation of, 143
circwruicribed type, 259, 264, 268f, detachment, 18 differential diagnosis of, 143
271f occult, 18, 25f-28f epidemiology of, 142
clinical signs of, 267 polypoidal, 64 management of, 143
diagnostic evaluation of, 267 recurrent, after laser therapy, 39f pathophysiology of, 142
differential diagnosis of, 267 in wet (exudative) AMD, 17-18 prognosis for, 143
diffuse type, 267 Choroidal neovascular membrane, Cilioretinal artery sparing, in central
epidemiology of, 267 50, 176 retinal artery obstruction,
history of, 267 Choroidal nevus, 257-258, 258f 149, 151/
management of, 268 clinical signs of, 257 Circumscribed choroidal hemangioma,
prognosis for, 268 diagnostic evaluation of, 257 78, 259, 264, 268f, 271
Choroidal mass, differential diagnosis differential diagnosis of, 257 Classic choroidal neovascularization,
of, 271 epidemiology of, 257 18, 21f-24f, 29f-30/
Choroidal melanocytoma, 262, 263/ history of, 257 Clinically significant macular edema
clinical signs of, 262 management of, 257-258 (CSME),96t
diagnostic evaluation of, 262 prognosis for, 257-258 Cluster of grapes appearance, 250, 25 lf
392 INDEX
CME. Su Cystoid macular edema diagnostic evaluation of, 273-274 Cryotherapy, 275, 347, 358
CNS lymphoma, 269 epidemiology of, 273 for retinal tears and breaks, 347
CNY. Su Choroidal neovasi::ularization history of, 273 for retinopathy of prematurity, 275,
Coats' disease, 96, 172, 229, 244, Congenital grouped pigmentation, 280f
294-299, 297f 252 for rhegmatogenous retinal
aneurysmal dilation and hemorrhage, Congenital hypertrophy ofthe retinal detachment, 358
298j,299f pigment epithelium (CHRPE), CSME. See Clinically significant
causes of, 294 252,253f macular edema
clinical signs of, 294 causes of, 252 CSNB. See Congenital stationary night
diagnostic evaluation of, 295 clinical signs of, 252 blindness
differential diagnosis of, 294-295 definition of, 252 CSR. See Central serous retinopathy
epidemiology of, 294 diagnostic evaluation of, 252 Cystoidmacularedema (CME), 19, 45,
and exudative retinal detachment, differential diagnosis of, 252 50,60-63,62f-63f
297f epidemiology of, 252 angiographic, 60
fluorescein angiogram of, 298f history of, 252 anti-VEGF therapy for, 61
history of, 294 multifocal, 252 causes of, 60
intraretinal hemorrhages, 296f management of, 252 clinical signs of, 60
pathophyiiiology of, 294 prognosis for, 252 diagnostic evaluation of, 60
management of, 295 solitary, 252 differential diagnosis of, 60
prognosis for, 295 Congenital oculodermal melanocytosis, epidemiology of, 60
Cobblestone degeneration, 376, 377f 259 fluorescein angiography for, 60
causes of, 376 Congenital stationary night blindness history of, 60
clinical signs of, 376 (CSNB), 219-222, 220f management of, 61
diagnostic evaluation of, 376 causes of, 219 Nd:YAG laser vitreolysis for, 61
differential diagnosis of, 376 classification of, 219 NSAIDs for, 61
epidemiology of, 376 clinical signs of, 219 prognosis for, 61
history of, 376 diagnostic evaluation of, 219 slit-lamp biomicroscopyfor, 60
management of, 376 differential diagnosis of, 219 surgery for, 61
prognosis for, 376 epidemiology of, 219 Cytomegalovirus retinitis (CMV),
Cockayne's syndrome, 233 fundus albipunctatus, 219 269
Color vision, 78-79, 190, 195, 198, 203, history of, 219 Cytologic findings, 264
236,341 management of, 219
Combined central retinal artery and vein prognosis for, 219 D
obstruction, 156-157, 157f Contact lens, 45, 95, 96, 329, 336, 347, DCCT. Su Diabetes Control and
Combined hamartoma ofretina and 357,372,380 Complications Trial (DCCT)
retinal pigment epithelium, 451 Cornea, in nonproliferative diabetic Degenerative myopia, 67-71, 68f-71f
252, 255-256, 256f, 259, 262 retinopathy, 96 anti-VEGF therapy for, 68
Commotio retinae, 314-315, 315f Cotton-wool spots, 133-135, 135f causes of, 67
clinical signs of, 314 causes of, 133 clinical signs of, 67
diagnostic evaluation of, 314 clinical signs of, 133 CNV lesions in, 68
differential diagnosis of, 314 in coagulopathies, 134 diagnostic evaluation of, 68
epidemiology of, 314 in diabetic retinopathy, 134 differential diagnosis of, 67-68
history of, 314 diagnostic evaluation of, 134 epidemiology of, 67
management of, 314 differential diagnosis of, 133 fluorescein angiography for, 68
prognosis for, 314 in embolic disorders, 134 history of, 67
Cone dysfunction, 236 epidemiology of, 133 laser photocoagulation for, 68
Cone dystrophy, 195-197, 196f-197f fundus changes, 133 management of, 68
causes of, 195 management of, 134 oi::ular photodynamic therapy
clinical signs of, 195 in nonproliferative diabetic for, 68
diagnostic evaluation of, 195 retinopathy, 95, 103f ophthalmoscopy for, 68
differential diagnosis of, 195 pathophysiology of, 133 prognosis for, 68
epidemiology of, 195 prognosis for, 134 scleral reinforcement and resection
history of, 195 pupillarychanges, 133 techniques, 68
management of, 195 in retinal win obstruction, 107,f, 134 Degenerative retinoschisis, 380-382
prognosis for, 195 in systemic arterial hypertension, causes of, 380
Confluent drusen, 6j, 1 lf-12f 134 clinical signs of, 380
Congenital and pediatric retinal visual acuity, 133 diagnostic evaluation of, 380
diseases Cranial nerve palsy, and differential diagnosis of, 380
causes of, 273 nonproliferative diabetic epidemiology of, 380
clinical signs of, 274 retinopathy, 96 history of, 380
INDEX 393
management of, 380 Drusen Extraretinal fibrovascular proliferation

outer wall breaks, 382f basal laminar, 6f (ERFP),274
peripheral retinoscltlsis, 38 lf choroidal neovascularization and, Exudative.A1\ilD, 1-4, 17-20, 21.£ 22.£
prognosis for, 380 3,3t 23f, 24f, 40f, 41f, 42f, 43f
Dental abnormalities, 284 confluent, 6f Exudative maculopathy, 19
Diabetes Control and Complications differential diagnosis of, 3, 198 Exudative retinal detachment, 383
Trial (DCCT), 97t in dry age-related macular categories, 383
Diabetic macular edema, 60 degeneration, 1-4, Sf-7f, causes of, 383
Diabetic papillopathy 10f-13f choroidal melanoma, 385f
causes of, 132 hard, 7f clinical signs of, 383
clinical signs of, 132 large,5f with Coats' disease, 385f
diagnostic evaluation of, 132 multiple large, 1 lf-13f diagnostic evaluation of, 384
differential diagnosis of, 132 Drusenoid pigment epithelial differential diagnosis of, 383-384
disc swelling, 132 detachments, 2, IOJ epidemiology of, 383
epidemi.ology of, 132 Dry(nonexudative).A1\ilD,1-16 history of, 383
fiuorescein angiography for, 132 central vision, 2 prognosis and management of, 384
history of, 132
management of, 132
papillary defect, 132
prognosis for, 132
visual loss, 132
geographic atrophy, 1
retinal pigment epithelial
abnormalities, 1
subretinal pigment epithelial
deposits, 1
F
• •
FA. See Fundus albipunctatus
Fabry's disease, 143, 145, 1SO, 154,
156
Diabetic retinopathy. See also therapies for, 4 Factor V Leiden mutation, 134
Proliferative diabetic Dystrophy(ies) Familial exudative vitreoretinopathy
retinopathy (PDR) adult foveomacular, 3 (FEVR),275,289-293,290/,
causes of, 94 cone,195-197,196j-197f 29lf
and cotton-wool spots, 95 pattern, 3, 198-202, 199f-201f causes of, 289
epidemi.ology of, 94 retinal, 189-239 clinical signs of, 289
history of, 95 diagnostic evaluation of, 289
hyperglycemia and, 94 E differential diagnosis of, 289
loss of pericytes in, 95 Early Treatment Diabetic Retinopathy epidemiology of, 289
mechanism ofdevelopment, Study (ETDRS) guidelines, history of, 289
94-95 97,97t management of, 289-290
nonproliferative, 95-98 Ecchymosis, 323, 336 prognosis for, 289-290
pathophysiology of, 94-95 Edema retinal dragging, 292f
thickening of retinal capillary macular rhegmatogenous retinal detachment,
basement membranes, 95 clinically significant, 96, 96t 293f
Diabetic Retinopathy Clinical Research cystoid, 19 Fascio-scaspulohumeral dystrophy,
(DRCR),97t in nonproliferative diabetic 294
Diabetic retinopathy study (DRS), retinopathy, 95, 97t; 103f Female carriers, 210, 211, 223, 226f,
112t; 114f retinal, in retinal artery 229f
DIC. Su Disseminated intravascular macroaneurysm, 172-173 FEVR. See Familial exudative
coagulation Ehlers-Danlos syndrome, and angioid vitreoretinopathy
Diffuse choroidal hemangioma, 267 streaks, 72, 336 Fibromuscular hyperplasia, 143, 145,
Disciform scar, with emdative age-related Electroretinography, 154, 159, 167, 150, 154, 156
maculardegeneration, 17, 19, 229,307 Fibrosis, 19
21.£271 Elsching spots. See Hypertensive Fibrotic submacular scarring, 19
Dislocated lens, 336-337, 337f choroidopathy Fibrovascular pigment epithelial
blunt ocular trauma, history of, Emboli detachment, 18
336 retinal, 338 Flame-shaped hemorrhages, in
clinical signs of, 336 retinal intra-arterial, 142, 145 nonproliferative diabetic
diagnostic evaluation of, 336 End-stage retinopathy, 95
differential diagnosis of, 336 ofBest's disease, 190 Fleck retina ofKandori, 219
epidemi.ology of, 336 geographic atrophy, 9f Fluorescein angiography, 18, 187, 190,
management of, 336 Endarterectomy, for ocular ischemic 195,241
prognosis for, 336 syndrome,159,159t age-related macular degeneration
Disseminated intravascular coagulation Enucleation, 244-245, 248, 260, (AMD),2-3
(DIC),383 262,295 angioid streaks, 72
DRCR. See Diabetic Retinopathy Epidermal nevus syndrome, 294 of carcinoma metastatic, 265
Clinical Research ETD RS. See Early Treatment Diabetic central serous retinopathy (CSR),
DRS. See Diabetic retinopathy study Retinopathy Study guidelines 78-79
394 INDEX
Fluorescein angiography (continued) Gyrate atrophy, 68, 210, 215-218, Homocysteinuria, and dislocated lens,
choroidal folds, 89 217f-218f 336
cystoid macular edema (CME), 60 causes of, 215 Horseshoe retinal tear, 346, 349.£ 350/
degenerative myopia, 68 clinical signs of, 215 Hunter's disease, 234
hypotony maculopathy, 92 diagnostic evaluation of, 215-216 Hurler's disease, 234
intravenous, 1n differential diagnosis of, 215 Hydroxychloroquine retinopathy,
macular epiretinal membrane, 45 epidemiology of, 215 341-342
nonproliferative diabetic retinopathy history of, 215 HYE. See Hard yellow emdates
(NPDR),96 management of, 216 Hyperopia, 89, 92
polypoidal choroidal vasculopathy prognosis for, 216 Hyperplasia, reactive, of retinal pigment
(PCV),64 epithelium, 255
vitreomacular traction syndrome H Hypertension, and cotton-wool spots,
(VMTS),58 Hagberg-Santavuori disease, 234 133
Focal hyperpigmentation, in dry age- Hamartoma Hypertensive choroidopathy, 136
related macular degeneration astrocytic, 240-242, 242f Hypertensive retinopathy, 96, 136-141,
(AI\ID), 1, 2, 7f of retina and retinal pigment 138/-141/
4-2-1Rule,96t epitheliwn, 58 clinical signs of, 136
Foveal aplasia/hypoplasia, 223 Harada's disease, 78, 383 diagnostic evaluation of, 137
Foveal hypoplasia, 223, 225f, 284 Hard drusen. See Small drusen differential diagnosis of, 136
Foveal schisis, and juvenile X-linked Hard yellow emdates (HYE), in epidemiology of, 136
retinoschisis, 307, 309.£ 311f nonproliferative diabetic grades of, 136
Frank geographic atrophy, 1, 2, 4 retinopathy, 100/-103/ intravitreal VEGF-A inhibitor
Friedreich's ataxia, 235 Helicobacter pylori infection, 78 therapy for, 137
Fuchs' spots, in degenerative myopia, Hemangioma Keith-Wagener-Barker classification
67 choroida), 267-268, 268/ of, 136
Fundus albipunctatus (FA), 219, 220/ circumscribed choroidal, 267, laser therapy for, 137
Fundus biomicroscopy, 2, 3, 17, 18, 268/ management of, 137
19, 187 optic disc, 248 pathophysiologyof, 136
Fundus flavimaculatus, 203 retinal capillary, 247-249, 249/ prognosis for, 137
Fundus pulverulentus, 198, 202/ retinal cavernous, 250-251, 251/ Hypertrophy, rongenita], of retinal
Hemoglobinopathies, 96 pigment epithelium, 252-254,
G Hemorrhage 253f-254f
Gardner's syndrome, 252, 254f, 378, blot, in nonproliferative diabetit Hyperviscosity syodrome, 167
379f retinopathy, 95 Hypomelanotit macules, 241
Gass classification ofidiopathic macular flame-shaped, in nonproliferative Hypoplasia, foveal, 225/
hole, 49, 49t diabetic retinopathy, 95 Hypotension, 134, 143, 145, 150
Genetic analysis, ofperipherin/RDS intraretinal, in nonproliferative Hypotony, 89, 92
gene, 198 diabetic retinopathy, 95 Hypotony maculopathy, 92, 93/
Genetic counseling, retinoblastoma premacular, 190, 194f causes of, 92
and,245 in retinal artery macroaneurysm, 172 thorioretinal folds in, 92
Genetic defects, retinal diseases salmon patch, in siclde cell clinical signs of, 92
associated with, 228 retinopathy, 178 diagnostic evaluation of, 92
Genetictesting,ofchildren,244 submacular, 19, 38f epidemiology of, 92
Geographic atrophy, in dry age-related subretinal, and angioid streaks, 72, fluorestein angiography for, 92
macular degeneration, 1, 2, 74f-76f history of, 92
14f-15f vitreous, in proliferative diabetic intraocular pressure in, 92
Germinal, children with, 241 retinopathy, 112, 121.f. 122/ macular leakage in, 92
Giant cell arteritis, 134, 142, 143, 145, Hemorrhagic choroidal detathment, macular retina in, 92
146,149,150,153,156,158 386 management of, 92
Giant retinal tear, 346, 352f Heredopathia atactica optic disc hyperfluorescence, 92
Glaucoma, and nonproliferative polyneuritiformis. See Refswn's peripapillary choroid in, 92
diabetic retinopathy, 96 disease prognosis for, 92
Goldmann perimetry, for retinitis Hennansky-Pudlak syndrome, 223, surgery for, 92
pigmentosa, 230 224,227f
Granularity ofthe RPE, 2 Hollenhorst plaque I
Granuloma, choroidal, 265, 269 in branch retinal artery obstruction, ICROP. See International Classification
Grid laser photocoagulation, for branch 145 ofROP
retinal vein obstruction, 164 in central retinal artery obstruttion, Idiopathic juxtafoveal telangiectasis, 96
Griinblad-Strandberg syndrome, and 149, 152f Idiopathic macular hole, 49-50, 5 lf-57/
angioid streaks, n in cilioretinal artery obstruttion, 142 Amsler grid testing of, 49
INDEX 395
causes of, 49 lntraretinal microvascular abnormality Laser panretinal photocoagulation

clinical signs of, 49-50 (IRMA), in nonproliferative (PRP), 150
diagnostk evaluation of, SO diabetic retinopathy, 95, lOSJ Laser photocoagulation. See also
differential diagnosis of, SO Intraretinal pigment clumps, 2 Panretinal photocoagulation
epidemiology of, 49 Intravenous drug abuse (chronic), 134 for branch retinal vein obstruction,
Gass classification of stages, 49 Intravenous B.uorescein angiography, 163-164
history, 49 156, 159, 182 for central retinal artery obstruction,
management of, SO Intravitreal VEGF-A inhibitor therapy 150
negative prognostic indicators, 50 hypertensive retinopathy, 137 for central retinal vein obstruction,
OCT and, SO IOFB. Su Intraocular foreign body 167
prognosis for, SO Iridescent spot, in sitkle cell for central serous retinopathy, 79
stages of development, 49t retinopathy, 178 for combined retinal artery and vein
surgery for, SO Iris neovascularization, in proliferative obstruction, 157
tangential vitreoretinal traction diabetic retinopathy, 112, 120f for degenerative myopia, 68
and,49 IRMA. See lntraretinal microvascular for exudative age-related macular
vitrectomy for, SO abnormality degeneration,20,39f
Watzke-Allen sign in, 50 IRVAN. See Idiopathic retinal vasculitis, guidelinesforuse,97t
Idiopathic retinal vasculitis, aneurysms, aneurysms, and neuroretinitis for nonproliferative diabetic
and neuroretini.tis (IRVAN), Irvine-Gass syndrome, 60, 175 retinopathy, 97, 97t
in Ischemia, macular, in proliferative for proliferative diabetic retinopathy,
Incontinentia pigmenti, 284-288, 28Sf diabetic retinopathy, 113 112-113, 12Sf
causes of, 284 for retinal tears and breaks, 347,
clinical signs of, 284 354f-356f
dental findings, 288f
J • • for retinopathy of prematurity, 276
Jansky-Bielschowsky disease, 234
dermatologic findings, 286.£ 287f Juvenile retinoschisis, 380 for rhegmatogenous retinal
diagnostic evaluation of, 284 Juvenile X-link.ed retinoschisis, detachment, 358
differential diagnosis of, 284 307-308 Laser therapy, 175
epidemiology of, 284 causes of, 307 Lattice degeneration, 3n-373
B.uorescein angiogram of, 286f clinical signs of, 307 causes of, 372
history of, 284 diagnostic evaluation of, 307 clinical signs of, 372
management of, 285 differential diagnosis of, 307 diagnostic evaluation of, 372
prognosis for, 285 epidemiology of, 307 differential diagnosis of, 372
Indocyanine green angiography, 18, 19, foveal schisis, 309/ epidemiology of, 372
JS.£ 64, 265, 267 history, Jn
history, 307
Interferon therapy, 134 inferior retinoschisis, 31 lf horseshoe tear and RD, 373f
International Classification ofROP management of, 308 pigmented, 373f
(ICROP), 274t peripheral retinoschisis, 3 lOJ prognosis and management of,
Intraocular foreign body (IOFB), prognosis for, 308 372
333-335,335f rhegmatogenous retinal detachment, Laurence-Moon syndrome, 234
causes of, 333 Leber's congenital amaurosis, 312-313,
311f
clinical signs of, 333 Juxtafoveal lesions, 255 313/
diagnostic evaluation of, 333 causes of, 312
Juxtafoveal telangiectasis. See Parafoveal
differential diagnosis of, 333 telangiectasis clinical signs of, 312
epidemiology of, 333 Juxtapapillary capillary hemangioma, diagnostic evaluation of, 312
history of, 333 differential diagnosis of, 312
247
management of, 333-334 epidemiology of, 312
prognosis for, 333-334
lntraocular lymphoma, 269-270,
270f
causes of, 269
K
• • •
Kandori, fleck retina of, 219
Kearns-Sayre syndrome, 234
Kissing choroidals, 386, 387
history of, 312
management of, 312
prognosis for, 312
Lens
clinical signs of, 269 contact, 347, 357, 372
diagnostic evaluation of, 270 Klinefelter syndrome, 284 dislocated, 336-337, 337f
differential diagnosis of, 269 KUFS disease, 235 Leptospirosis, 134
epidemiology of, 269 Leukemia,96
history of, 269 L Leukokoria, 245f
management of, 270 Lacquer cracks, in degenerative differential diagnosis of, 244
prognosis for, 270 myopia,67 and retinoblastoma, 243-244, 245f
Intraretinal hemorrhages, in Large drusen, 1-3, Sf, 198 Llpemiaretinalis, 187-188, 188f
nonproliferative diabetic Largest basal tumor diameter (LTD), clinical signs of, 187
retinopathy, 95 260 diagnostic evaluation of, 187
396 INDEX
Lipemia retinalis (continued) Maculopathy Nolvadex. Su Tamoxifen

differential diagnosis of, 187 bull's eye, 195, 196f-197f, 203, 207/, Nonarteritic ischemic optic neuropathy
management of, 187 341,342f (AION), 132
pathophysiology of, 187 hypotony; 92-93, 93f Nonexudative age-related macular
prognosis for, 187 solar, 319, 319f degenerati.on,1-16
Lipid exudation, 19 Magnetic resonance angiography Nongeographic atrophy; in dry age-
Lipoprotein exudation, in (MRA), 159 related macular degeneration,
nonproliferative diabetic Marfan's syndrome, 336 1,2,8f
retinopathy, 95 Melanocytoma, 255 Non-Hodgkin tumor, 269
Liver enzymes, measurement of, 260 choroidal, 262-263, 263f Nonproliferative diabetic retinopathy
LTD. See Largest basal tumor diameter Melanoma, choroidal, 259-261, 26lf (NPDR), 95-98, 99f-111f
Lupus anticoagulant syndrome, 134, and enidative retinal detachment, anti-VEGF therapy for, 98
143, 145, 150 385f blot hemorrhages in, 95
Lyme disease, 134, 143, 145, 150 Meridional fold, 374-375, 375f clinical signs of, 96
Lymphoma, intraocular, 269-270, 270f Metastasis, choroidal, 264-266, 266f cotton-wool spots, 95
Metastatic carcinoma, 134 diagnostic evaluation of, 96-97
M Methylphenidate, 338 differential diagnosis of, 96
Macroaneurysm, retinal artery, Microaneurysms, in nonproliferative ETDRS guidelines for, 97
172-174, 174f diabetic retinopathy; 95, lOlf flame-shaped hemorrhages in, 95
Macula-off'RDs, 358 Migraine, 134, 143, 145, 150 fluorescein angiography for, 96
Macular branch vein, 163 Mizuo-Nakamura phenomenon, 221, 4-2-1rule,96t
Macular degeneration, age-related. 222f intraretinal hemorrhage in, 95
See Age-related macular MRA. See Magnetic resonance intraretinal microvascular
degeneration angiography abnormality (IRMA), 95
Macular diseases, 44-93 Mucopolysaccharidoses, 234 lipoprotein exudation in, 95
Macular edema, 19, 183 Muscular dystrophy; 294 macular edema in, 95
clinically significant, 96, 96t Myopia, degenerative, 67-71, 68f-71f management of, 97-98
• •
cystoid, 60-63, 62f-63f microaneurysm in, 95
in nonproliferati.ve diabetic mild, 95, 99f-102f
retinopathy; 95, 96t, 97t Necrotic tears of retina, 347 moderate, 95, 103f-104f
Macular epiretinal membrane, 44-48, Neovascularizati.on elsewhere (NVE), OCTof,97
46f-48.£58 112 prognosis for, 97-98
Amsler grid testing of, 45 in proliferative diabetic retinopathy, role oflaser, 97
causes of, 44 112, 116f-119f severe, 95-96, 105f-106f
clinical signs of, 45 and vitreous hemorrhage, 112 vision loss in, 95
diagnosis of, 45 Neovascularization ofthe disc (NVD), NPDR. See Nonproliferative diabetic
differential diagnosis of, 45 112 retinopathy
epidemiology of, 44 and diabetic papillopathy; 132 NVD. See Neovascularization ofthe
in females, 44 in proliferative diabetic retinopathy, disc
fluorescein angiography for, 45 112, 114f-115f, 118f NVE. See Neovascularization
history of, 44 and vitreous hemorrhage, 112 elsewhere
idiopathic, 44 Neovascularization ofthe iris (NVI) NVI. See Neovascularization of the iris
inmales,44 in branch retinal vein obstruction, Nystagmus, 223, 235
management of, 45
OCTfor,45
posterior vitreous detachment
(PVD)in,44
prognosis for, 45
163
in central retinal artery obstruction,
150
in central retinal vein obstruction, 166
in combined retinal artery and vein
0
Occlusion • • •
acute ophthalmic artery obstruction,
153-155,1S3t,155f
retinal break formation and trauma obstruction, 157 branch artery; 284
in,44 in ocular ischemic syndrome, 158 branch retinal vein, 163-165, 165f
slit-lamp biomicroscopy of, 45 in proliferative diabetic retinopathy, central retinal artery, 149-152, 151f,
Macular hole, 45 112, 113t 153t
idiopathic, 49-57, 49t, 51f-57f Neuroimaging, 325 central retinal vein, 166-171, 167t,
traumatic,329-330,330f Neuronal ceroid lipofuscinosis, 168f-171f
Macular ischemia, in proliferative 234-235 cilioretinal artery; 142-144, 144f
diabetic retinopathy; 113 Nevus, choroidal, 257-258, 258f combined retinal artery and vein
Macular pucker. See Macular epiretinal Nifedipine, 137 obstruction, 156-157, 157f
membrane Night blindness Occult choroidal neovascularization,
Macular scarring, and angioid streaks, congenital stationary; 219-220, 220f 18,25f-30f
75f in retinitis pigmentosa, 228 Ocular albinism, 223
INDEX 397
Ocular ischemic syndrome, 96, 158-162, for central retinal vein obstrur;tion, clinical signs of, 304
160f-162.£ 167t 167 diagnostic evaluation of, 304
carotid artery stenosis treatment, for combined retinal artery and vein differential diagnosis of, 304
outcomes, 159t obstruction,157 epidemiology of, 304
causes of, 158 for or;ular ischemic syndrome, 159 history of, 304
clinical features of, 158 Papilledema, 132, 134 management of, 304
diagnostic evaluation of, 159 Parafoveal telangiectasis, 175-177 posterior form, 306f
differential diagnosis of, 158-159 causes of, 175 prognosis for, 304
epidemiology of, 158 clinical signs of, 175 PFY. Su Persistent fetal vasculature
management of, 159 diagnostic; evaluation of, 175-176 Photodynamic therapy
pathophysiology of, 158 differential diagnosis of, 175 for degenerative myopia, 68
prognosis for, 159 epidemiology of, 175 for emdative age-related macular
Ocular toxoplasmosis, 300 group 2, 176f-177f degeneration, 20
Ocular trauma, angioid streaks and, management of, 176 PHPY. Su Persistent hyperplastic
73, 76f pathophpiology of, 175 primary vitreous
Oculocutaneous albinism, 223, 227f prognosis for, 176 Pigment epithelial detachment
Oguchi's disease, 221-222 Pars planitis, 295 in dry age-related macular
causes of, 221 Pattern dystrophy, 3, 198-202, degeneration, 2, !Of
clinical signs of, 221 199f-202f and exudative age-related macular
diagnostic evaluation of, 221 causes of, 198 degeneration, 17
epidemiology of, 221 clinical signs of, 198 fibrovascular, 18
management of, 221 diagnostic; evaluation of, 198 serous, 18
Mizuo-Nakam.ura phenomenon of, differential diagnosis of, 198 Pigmented fundus lesion, 254f
221,222f epidemiology of, 198 Pisciform fiecks, in Stargardt's disease,
prognosis for, 221 fundus pulverulentus, 202f 203,205/
Operculated retinal tear, 346, 350f history of, 198 Plus disease, ofretinopathy of
Ophthalmia, sympathetir::, 383 prognosis for, 198 prematurity, 274, 280f
Ophthalmic artery obstrur;tion, acute, Paving stone degeneration, 376-377, Pneumatic retinopexy, for
153-155, 155f 377f rhegmatogenous retinal
causes of, 153 PCV. Su Polypoidal choroidal detachment, 358
clinical features of, 153 vasculopathy Polyarteritis nodosa, 149
diagnostic evaluation of, 153-154 PDR. See Proliferative diabetic; Polypoidal choroidal vasculopathy
differential diagnosis of, 153t retinopathy (PDR) (PCV), 19, 64-66, 65f-66f
epidemiology of, 153 Peaud'arange, 72, 75f-76f anti-VEGF therapy for, 65
management of, 154 Pediatric retinal diseases, 273 causes of, 64
pathophysiology of, 153 Pegaptanib, 20 clinical signs of, 64
prognosis for, 154 Peripheral cystoid degeneration, diagnostic evaluation of, 64
Optical coherence tomography (OCT), 351f differential diagnosis of, 64
97, 314, 323, 325 Peripheral grouped pigmentation, 378, epidemiology of, 64
Optic disr; hemangioma, 248 379f fluoresr;ein angiography of, 64
Optic dist/retina, neovascularization causes of, 378 history of, 64
of, 182 clinical signs of, 378 laser photocoagulation for, 65
Optic nerve pit with neurosensory diagnostic evaluation of, 378 management of, 64-65
macular retinal detachment, 78 differential diagnosis of, 378 or::ular photodynamic therapy for,
Optic neuropathy, 182 epidemiology of, 378 65
Orbital mur;ormycosis, 149 Gardner's syndrome, 379f prognosis for, 64--65
Orbital tumors, 89, 92 history of, 378 serosanguineous detachments in, 64
Osteitis deformans, and angioid management of, 378 slit-lamp biomicroscopy, 64
streaks, 72 prognosis for, 378 Popcorn lesions, ofretinopathy of
Osteoma, choroidal, 271-272, 272f Peripheral retinal disease, 346-388 prematurity, 275, 278f
• •
Peripheral retinoschisis, and juvenile Posterior scleritis, 78, 89, 92
X-linked retinoschisis, 307, Posterior vitreous detachment (PVD),
Paget's disease, and angioid streaks, 72 310f 346,348/
Panretinal photocoagulation (PRP), Peripheral vision problems, 228 and macular epiretinal membrane, 44
112, 113t, 125f-129.f. Su al.so Persistent fetal vasculature (PFV), 275, Postt raumatic retinal tear, 352f-353f
Laser photocoagulation 304-306, 305f Prednisolone ar;etate, 61
for branch retinal vein obstruction, Persistent hyperplastic primary vitreous Premacular hemorrhage, 190, 194f
164 (PHPV), 304-306 Presumed ocular histoplasmosis, 68
for central retinal artery obstruction, anteriorform,305f Previtelliform stage, of Best's disease,
150 causes of, 304 189
398 INDEX
Proliferative diabetic retinopathy brachytherapy for choroidal types of

(PDR), 112-113, 114/-131/ melanoma, 186/ atrophic retinal break, 346
chemical mediators, 112 causes of, 182 giant tear, 346
clinical signs of, 112 clinical signs of, 182 horseshoe (flap) tears, 346
macular ischemia, 113 diagnostic evaluation of, 182 operculated tears, 346
neovascularization elsewhere differential diagnosis of, 182 retinal dialysis, 346
(NVE), 112 epidemiology of, 182 stretch/necrotic tears, 347
neovascularization ofthe disc management of, 182-183 Retinal capillary hemangioma,
(NVD), 112 pathophysiology of, 182 247-249, 249f
panretinal photocoagulation (PRP) prognosis for, 182-183 causes of, 247
facts, 113t Radiation therapy, 268 clinical signs, 247
preretinal hemorrhage in, 112 Ranibizumab, 20, 98, 137, 164 diagnostic evaluation of, 248
retinal detachment, treatment for, RAPD. See Relative afferent papillary differential diagnosis of, 247-248
113 defect epidemiology of, 247
treatment for, 112-113 Rb. See Retinoblastoma history of, 247
vitrectomy in, indications for, 113 Rbgene,243 management of, 248
vitreous hemorrhage and, 112 RD. See Rhegmatogenous retinal prognosis for, 248
Proliferative vitreoretinopathy (PVR), detachment von Hippel-Lindau (VHL) disease,
347,366-367 Reactive hyperplasia, of retinal pigment 247
causes of, 366 epithelium, 255 Retinal capillary nonperfusion, 156,
classification of, 366t Reddish-brown papular rash, 241 163, 165,f, 170, 178, 284, 289,
clinical signs of, 366 Refsum's disease, 233 294, 295, 339
diagnostic evaluation of, 366 Relative afferent papillary defect Retinal cavernous hemangioma, 163,
epidemiology of, 366 (RAPD),262 250-251, 25lf
fixed retinal folds, 371/ Reticulum cell sarcoma. See lntraocular causes of, 250
history, 366 lymphoma central nervous system (CNS) and,
management of, 367 Retina, hamartoma of, combined with 250
prognosis for, 367 hamartoma of retinal pigment clinical signs of, 250
recurrent RD, 370f epithelium, 255-256, 256f diagnostic evaluation of, 250
retinal tear, 368f Retinal arterial macroaneurysm, differential diagnosis of, 250
tractional RD, 369/ 172-174,174f epidemiology of, 250
Protein C deficiency, 134, 143, 145, clinical signs of, 172 history of, 250
150 diagnostic evaluation of, 172 management of, 250
Protein S deficiency, 134, 143, 145, 150 differential diagnosis of, 172 prognosis for, 250
PRP. See Panretinal photocoagulation epidemiology of, 172 Retinal degenerations, 189-239
Pseudo-Best's disease, 194f management of, 172-173 Retinal detachment
Pseudohypopyon stage, of Best's pathophysiology of, 172 exudative, 383-385, 385f
disease, 189-190, 192/ prognosis for, 172-173 differential diagnosis of, 383-384
Pseudoxanthoma elasticum, and Retinal artery, central in proliferative diabetic retinopathy,
angioid streaks, 72 and vein obstruction, combination, 113
Purtscher's retinopathy, 134, 327-328, 156-157, 157f rhegmatogenous, 357-365,
328/ causes of, 156 359j-365f
causes of, 327 clinical signs of, 156 Retinal dialysis, 346, 35 lf
clinical signs of, 327 diagnostic evaluation of, 156 Retinal dragging, 289
diagnostic evaluation of, 327 differential diagnosis of, 156 Retinal dystrophies, 189-239
differential diagnosis of, 327 epidemiology of, 156 Retinal edema, in retinal artery
epidemiology of, 327 management of, 157 macro-aneurysm, 172
history of, 327 pathophysiology of, 156 Retinal emboli, 338
management of, 327 prognosis for, 157 Retinal folds, 89
prognosis for, 327 Retinal artery macroaneurysm, Retinal hemorrhage, 19, 169,f, l 70f
PVD. See Posterior vitreous detachment 172-174,174f Retinal intra-arterial emboli, 142
PVR. See Proliferative vitreoretinopathy Retinal break, 346-347, 357, 372 in central retinal artery obstruction,
Pyridoxine, for gyrate atrophy, 216 causes of, 346 149, 152/
clinical signs of, 346-347 Retinal ischemia, 154
R diagnostic evaluation of, 347 Retinal macroaneurysm, 321
Radiation optic neuropathy, after differential diagnosis of, 347 Retinal necrosis, acute, 269
teletherapy, 185/ epidemiology of, 346 Retinal neovascularization, 178
Radiation retinopathy, 96, 134, history of, 346 Retinal pigment epithelium (RPE), 45,
182-183 management of, 347, 354f, 355,f, 356/ 58,187,189,314,357
after teletherapy, 184f-185f prognosis for, 347 abnormalities, 1
INDEX 399
in Best's disease, 189 pericentric, 229 Retinoschisis, 267

bull's-eye pattern of, 203 prognosis for, 229-230 degenerative, 380-382, 38lf-382f
causes of, 255 Refsum's disease, 233 jlIVenile X-linked, 307-311, 309f-311f
changes, 319 Sanfilippo's diseases, 234 peripheral, 307, 310j
clinical signs of, 255 sector, 229, 232f Rhegmatogenous retinal detachment,
congenital hypertrophy of, 252-254, systemic diseases associated with, 78, 357-359, 359t 360j
253f-254f 233-235 causes of, 357
cystoid macular edema, 230 Usher's syndrome, 233 chronic, 361/, 362f
detachment of, 17, 19, 3lf-33f Retinitis pigmentosa sine pigmento, clinical signs of, 357
diagnostic evaluation of, 255 229 diagnostic evaluation of, 357
differential diagnosis of, 255 Retinitis punctata albescens, 219, 229 differential diagnosis of, 357
epidemiology of, 255 Retinoblastoma (Rb), 241, 243-246, epidemiology of, 357
hamartoma of, combined with 245/, 246/, 384 history, 357
hamartoma of retina, 255-256, causes of, 243 pigmentary disturbances, 363f
256f children with germinal, 244 prognosis for, 358-359
history of, 255 clinical signs, 243-244 regressed, 363f
hyperplasia, 175 diagnostic evaluation of, 244 retinal incarceration, 365f
management of, 255 differential diagnosis of, 244 scleral buckle, 365f
prognosis for, 255 epidemiology of, 243 subretinal hemorrhage, 364f
reactive hyperplasia of, 255 history of, 243 Ritalin, 338
retina, hamartoma of, 255, 256f management of, 244--245 Rod dysfunction, 236
tears, 19, 36f-37f prognosis for, 244 ROP. See Retinopathy of prematurity
Retinal tear. See Retinal break Retinochoroidal anastomoses, 19 RP. See Retinitis pigmentosa
Retinal telangiectasis. See Coats' Retinopathy, 182 RPE. See Retinal pigment epithelium
disease central serous, 78-79, 79f-88f Rubeosis iridis, 166, 357, 366
Retinal tumors, 240-272 chloroquine, 341-342, 342f Rush disease, of retinopathy of
Retinal vascular disease, 133-188 diabetic, 94-98 prematurity, 274
Retinal vascular whitening, 187 and cotton-wool spots, 95
Retinal vasculature, ofinfants, 273 nonproliferative, 95-98, s
Retinal vasculitis, 270f 99j-103f Salmon patch hemorrhage, in sickle cell
Retinal vein obstruction, 158 hydro:r:ychloroquine,341-342 retinopathy, 178
branch, 163-165, 165f hypertensive,136-137,138f-14lf Sanfilippo's diseases, 234
central,156-157,157f proliferative diabetic, 112-113, Scarring
Retinal vein occlusion, 96 99j-111f discifonn, emdative age-related
Retinal whitening Purtscher's, 327-328, 328f macular degeneration and, 17,
in acute ophthalmic artery radiation, 182-183, 184f-186f 19,2lf
obstruction,153,155f sickle cell, 178-179, 179f-18lf macular, angioid streaks and, 72, 75f
in central retinal artery obstruction, talc,338-340,340! Scleral buckle, for rhegmatogenous
149 thioriduine, 343-345, 344f-345f retinal detachment, 358-359,
with traumatic injury, 314, 315f Valsalva,321-322,322f 365f
Retinitis pigmentosa (RP), 210, Retinopathy of prematurity (ROP), Scleral buckling surgery, 89, 92
228-232, 230/, 23lf 273,277f Scleritis, posterior, 78, 89, 92, 265
atypical, 229 antiangiogenic injection therapy, 276 Sea fans, in sickle cell retinopathy, 178,
Bardet-Biedl syndrome, 234 causes of, 273 l80f
Bassen-Kornzweig syndrome, clinical signs of, 274--275 Sector laser panretinal
233 complication of, 28lf photocoagulation, for branch
causes of, 288 diagnostic evaluation of, 273-274 retinal vein obstruction, 164
clinical signs of, 228-229 differential diagnosis of, 275 Senior-Loken syndrome, 294
Cockayne's syndrome, 233 epidemiology of, 273 Serous pigment epithelial detachment,
diagnostic evaluation of, 229 history, 273 18,34f-35f
epidemiology of, 228 laser photocoagulation for, 283f Shaken baby syndrome, 323-324
with emdative vasculopathy, 229 management of, 275-276 clinical signs of, 323
Friedreich's ataxia, 235 plus disease, 280f diagnostic evaluation of, 323
history of, 228 prognosis for, 275-276 differential diagnosis of, 323
Keams-Sayre syndrome, 234 retinal dragging, 28lf epidemiology of, 323
Laurence-Moon syndrome, 234 stages of severity, 277f-279f history of, 323
management of, 229-230 threshold disease, 274, 280f intraretinal and preretinal
mucopolysaccharidoses, 234 Retinopexy, pneumatic, for hemorrhages, 324f
neuronal ceroid lipofuscinosis, rhegmatogenous retinal management of, 323
234-235 detachment, 358 prognosis for, 323
400 INDEX
Sickle cell anemia, and angioid streaks, 72 idiopathic macular hole, 50 Thyroid carcinoma, 264
Siclde cell disease, 134, 143, 145, 150, scleral buckling, 89, 92 Tilted disc syndrome, 68
154 vitreomacular traction syndrome Total serosanguineous retinal
Siclde cell retinopathy, 178-179 (VMTS),58 detachment, 64
black sunburst lesion, 179/ wet {exudative) AMD, 20 Toxic retinopathies, 314-345
clinical signs of Sydenham's chorea, 143, 145, 150 Toxocariasis,ocular,275,295,304
nonproliferative manifestations, Sympathetic ophthalmia, 383 Toxoplasmosis, ocular, 300
178 Systemic lupus erythematosus, 149 Transpupillary thermotherapy (TIT),
proliferative changes, 178 260
diagnostic evaluation of, 178 T Trauma, angioid streaks and, 73, 76f-77f
differential diagnosis of, 178 Talc retinopathy, 338-339 Traumatic choroidal rupture, 72
epidemiology of, 178 causes of, 338 Traumatic macular hole, 329-330, 330f
management of, 178-179 clinical signs of, 338 causes of, 329
pathophyiiiology of, 178 diagnostic evaluation of, 338 clinical signs of, 329
peripheral retinal neovascularization, differential diagnosis of, 338 diagnostic evaluation of, 329
180/-181f epidemiology of, 338 differential diagnosis of, 329
prognosis for, 178-179 history of, 338 epidemiology of, 329
Siclded red blood cells, 178 management of, 339 history of, 329
Skin hypopigmentation, 223 prognosis for, 339 management of, 329
Small drusen, 1, 7f yellow refractile particles, 340f prognosis for, 329
Smokestack appearance, in central Tamoxifen (Nolvadex), and talc Traumatic retinopathies, 314-345
serous retinopathy, 79, 86f retinopathy, 338 True albinism, 223
Soft drusen. See Large drusen Telangiectasia TS. See Tuberous sclerosis
Solar maculopathy, 319-320 localized, 295 TIT. See Transpupillary thermotherapy
clinical signs of, 319 parafoveal, 175-177, 176f-177f Tuberous sclerosis (TS), and astrocytic
diagnostic evaluation of, 319 retinal. See Coats' disease hamartomas, 240-241
differential diagnosis of, 319 Telangiectatic retinal vascular changes, Tumors
epidemiology of, 319 177f choroidal, 240-272
management of, 319 Teletherapy, and radiation retinopathy, retinal, 240-272
prognosis for, 319 182, 184f-185f Tumor-suppressor gene, 241
sungazing and, 319 Temporary balloon, for Turner's syndrome, 294
yellow foveal lesion, 319f-320f rhegmatogenous retinal Type A personality and CSR, 78
Solar retinopathy, 50, 329 detachment, 358 Tyrosinase-negative albinos, 224
Spielmeyer-Vogt disease, 235 Terson's syndrome, 325-326, 326f
Stargardt's disease, 203-209, 208f, 209/ causes of, 325 u
with beaten bronze macula, 206/ clinical signs of, 325 IBtrasonography, 260
•bull's-eyen macula, 207f diagnostic evaluation of, 325 Usher's syndrome, 233
bull's-eye pattern, 204 differential diagnosis of, 325
causes of, 203 epidemiology of, 325 v:.K :.K :.K
clinical signs of, 203 history of, 325 Valsalva retinopathy, 321, 322/
diagnostic evaluation of, 203-204 management of, 325 clinical signs of, 321
differential diagnosis of, 203 prognosis for, 325 diagnostic evaluation of, 321
epidemiology of, 203 retinal and preretinal hemorrhages, differential diagnosis of, 321
history of, 203 326 epidemiology of, 321
management of, 204 Thermal laser photocoagulation, for history of, 321
pisciform flecks, 205f exudative age-related macular management of, 321
prognosis for, 204 degeneration, 20, 39/ prognosis for, 321
RPE, loss of, 208/ 'Ihioridazine retinopathy, 343 retinal hemorrhages, 322f
Sticlder's syndrome, 372 causes of, 343 Vascular endothelial growth factor
Strabismus, and retinoblastoma, 243, clinical signs of, 343 (VEGF),247
245f diagnostic evaluation of, 343 Vasculitis, retinal, 270f
Stretch tears of retina, 347, 352/ differential diagnosis of, 343 Vasculopathy, polypoidal choroidal,
Sturge-Weber syndrome, 267 epidemiology of, 343 64-66, 65f-66f
Submacular hemorrhage, and angioid history of, 343 Vasoproliferative retinal tumor, 248
streaks, 72, 72f, 76f management of, 343 VEGF. See Vascular endothelial growth
Surface wrinkling retinopathy. See nummular retinal pigment epithelial factor
Macular epiretinal membrane loss, 344f-345f VEGF injections, 20
Surgery prognosis for, 343 Vein obstruction, central
cystoidmacular edema (CME), 61 Threshold disease, of retinopathy of and retinal artery, combination,
hypotony maculopathy, 92 prematurity, 274, 280f 156-157, 157f
INDEX 401
Venous beading, in nonproliferative prognosis for, 58 inAfiicanAmericans, 19

diabetic retinopathy, 95-96, retinal striae in, 58 Amsler grid monitoring, 17
96t, 104f spectral-domain OCT, 58 anti-VEGF injection therapy, 20
Verteporfin photodynamic therapy vitrectomy for, 58 in Asian Americans, 19
(PDT) Vitreoretinal tufts, 374-375, 375f causes of, 17
for degenerative myopia, 68 causes of, 374 clinical signs of, 17-19
for exudative age-related macular clinical signs of, 374 CNV and, 17, 18
degeneration, 20, 40f-43f di1ferential diagnosis of, 374 comparative AMD treatment trial
VHL disease. See von Hippel-Llndau epidemiology of, 374 (CATT Study), 20
disease history of, 374 di1ferential diagnosis of, 19-20
Vitamin A management of, 374 disciform scarring, 17
for Bassen-Komzweig syndrome, meridional fold, 375f early changes, 17
233 prognosis for, 374 in elderly, 17
for retinitis pigmentosa, 230 Vitreoretinopathy epidemiology of, 17
Vitamin B151 for gyrate atrophy, 216 familial exudative, 289-293, evidence-based therapy, 20
Vitamin E, for Bassen-Kornzweig 290f-293f fluorescein angiographic
syndrome, 233 proliferative, 366-371, 366t, classification, 17
Vitelliform stage, of Best's disease, 189, 368f-371f fluorescein leakage, 18
19lf Vitreous base, avulsed, 318, 318f history of, 17
Vitelliruptive stage, ofBest's disease, Vitreous hemorrhage, in proliferative incidence of, 17
190, 193f diabeticretinopathy, 112, late, 17
Vitrectomy, 50 121f-122f loss ofvision in, 17
for proliferative diabetic retinopathy, chronic, 179 management of, 20
113, 128f-129f VMTS. See Vitreomacular traction OCT imaging, 17
for rhegmatogenous retinal syndrome PDTfor,20
detachment, 358-359 von Hippel-Lindau (VHL) disease, pigment epithelial detachment,
Vitreomacular traction syndrome 247,249f 17
(VMTS), 58-59, 59f prognosis for, 20
causes of, 58
clinical signs of, 58 ~---~--~---
Watzke-Allen sign, 50, 329
retinal pigment epithelial tears
in, 19
diagnostic evaluation of, 58 Waxy pallor, of optic disc, 228 submacular hemorrhage in, 19
di1ferential diagnosis of, 58 Wegener'sgranulomatosis, 134, 143, surgery for, 20
epidemiology of, 58 145, 149, 154, 156 in United States, 17
B.uorescein angiography of, 58 Weill-Marchesani syndrome, and in Western world, 17
history of, 58 dislocated lens, 336
macular distortion in, 58 Wet (exudative) AMD y
management of, 58 adjunctive treatment for, 20 Yellow intraretinal crystals, 175

Color Atlas and Synopsis of Clinical Ophthalmology - Retina 2012

Uploaded by

Copyright:

Available Formats

Color Atlas and Synopsis of Clinical Ophthalmology - Retina 2012

Uploaded by

Document Information

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Color Atlas and Synopsis of Clinical Ophthalmology - Retina 2012

Uploaded by

Copyright:

Available Formats

IDI......

ClJJ JJL;. __I D.P J-J-J }Jf 11110_1DG1

Library of Congress Cataloging-in-Publication Data

Richard S. Kaiser, MD Mitblesh C. Sharma, MD

Ms. Stefanie Carey, BS Ms. Lisa Lavetsky

CHAPTER 2 Macular Diseases 44

CHAPTER 3 Diabetic Retinopathy 94

CHAPTER 4 Retinal Vascular Disease 133

Parafoveal Telangiectasis 175

CHAPTER S Retinal Degenerations and Dystrophies 189

CHAPTER 6 Retinal and Choroidal Tumors 240

CHAPTER 7 Congenital and Pediatric

CHAPTER 8 Traumatic and Toxic Retinopathies 314

CHAPTER 9 Peripheral Retinal Disease 346

D rusen are the clinical hallmark of dry

hypofluorescence and late hyperfluorescence be evaluated with fluorescein angiography to

EXUDATIVE AGE-RELATED PATHOLOGY

Classic Choroidal Neovascularization late leakage of undetermined source, is char-

Retinal Pigment Epithelial Tears Occasionally, retinochoroidal anastomoses

MACULAR EPIRETINAL ofthe membrane. After PVD, a portion of

IMPORTANT DIAGNOSTIC EVALUATION

the second eye. Patients with a full-thickness

TABLB 2·1. Stages of Development of Idiopathic Macular Hole

VITRBOMACULA R DIFFERENTIAL DIAGNOSIS

persistent attachment to the macula and, occa-

• Fluorescein angiography may reveal retinal

• Patients who have VMTS experience • Occasionally patients may experience

PROGNOSIS AND frequencies of administration and combination

the retina and retinal pigment epithelium. The

The disc itselfmay be vertically elongated or

• Preswned ocular histoplasmosis degenerative effects upon the retina. Scleral

of vision loss due to rupture of the CNY, sub-

FIGUKB 2.o-18. Aftgioid .a.ab. A. Pigmented streaks with subretinal hemorrhage.

FIGVllB 2..-19. (Continued)

serous detachment (Fig. 2-20). Patients

EPIDEMIOLOGY • Often patients will have pigment epithelial

PIGUllB 2.--25. (Continued)

CHOROIDAL FOLDS IMPORTANT

F olding or wrinkling of the inner choroid,

segment signs consistent with surgery or

• Hypotony maculopathy is a condition DIFFERENTIAL DIAGNOSIS

patients show some retinopathy. Proliferative

Excessive glycosylation ofproteins Macular edema- the most comm.on

TABLE 3·1. 4-2-1 Rule Ocular ischemic syndrome

• Optical coherence tomography (OCT) TABLE 3-4. Early Treatment Diabetic

PIGURB 3-1. Minimal nonproliferative diabetic retinopathy (NPDR).

FIGUllE 3-3. Subtle HYB near fovea in NPDR.

PIGURB 3-6. Cotton-wool apota u well at hemorrhage and HYE.

FIGUllB 3-7. Venom beading (arrow) indicating more severe NPDR.

FIGURB 3-1. A. s~ NPDR.

FIGURE 3·9. Sau.saging of retinal venules (cm-ow) seen in severe NPDR.

FIGURE 3·10. Venous loop.

PIGURB 3-13. (Continued) C. Late leakage from the miaoaneurysmL

PIGURB 3-14. OCT 1how1 cystic edema in central mac:u1a.

(Fig. 3·22). Involvement ofthe anterior

PlGUU 3-18. Severe elevated NVD.

FIGURB 3-21. A. PDR with NVD and NVB (arrows).

FIGlJRE 3-23. Mild vitreous hemorrhage in PDR.

FIGUllB 3-25. Boat-shaped preretinal hemorrhage in PDR.

FIGUllE 3-26. More dense vitreowi hemorrhage.