156-Article Text-557-2-10-20200909
156-Article Text-557-2-10-20200909
156-Article Text-557-2-10-20200909
RNI:MPENG/2017/74152
The authors report here a rare case of blepharophimosis syndrome which was associated with
esotropia and nystagmus. Blepharophimosis syndrome is a clinical entity characterized by
blepharophimosis, ptosis, epicanthus inversus, and telecanthus. In our case, it was also associated
with horizontal nystagmus and esotropia. Our patient also had a bilateral mature cataract. It can
either be type 1 or type 2 depending on the associated systemic manifestations. The present study
describes a case of BPES type 2 with associated nystagmus and esotropia with a bilateral mature
cataract.
Hardik Kalaria, MBBS, 3rd Year Resident, Department Kalaria H, Sabnis M, Kulkarni V, Devkar P. A rare
of Ophthalmology, Dr. D. Y. Patil Medical College case report of Blepharophimosis syndrome
Hospital and Research Institute, Kolhapur, associated with esotropia and nystagmus. Trop J
https://opthalmology.medresearch.in/index.php/jooo
/article/view/156
© 2020 by Hardik Kalaria, Milind Sabnis, Vedesh Kulkarni, Parag Devkar and Published by Siddharth Health Research and Social
Welfare Society. This is an Open Access article licensed under a Creative Commons Attribution 4.0 International License
https://creativecommons.org/licenses/by/4.0/ unported [CC BY 4.0].
Some progress has now been made to understand From the lower lid that was inserted in the upper lid
the molecular genetics associated with this medially suggestive of epicanthus inversus [Figure
syndrome [5]. It is predominantly divided into two 3]. The patient also had increased distance between
types: BPES type 1 and BPES type 2; type 1 refers the medial canthi of around 35 mm which is
to the classical syndrome complex associated along suggestive of telecanthus [Figure 4]. The patient
with premature ovarian failure, whereas type 2 presented with horizontal nystagmus. The patient
refers to the syndrome complex exclusively limited also had esotropia of 45° in the left eye. The patient
to the ocular manifestations. Various ocular had severe bilateral ptosis with a flat nasal bridge
manifestations may include lacrimal duct anomalies, and there was overaction of the frontalis muscle
strabismus, amblyopia, and refractive errors. Other [Figure 5]. The length of the vertical palpebral
extraocular manifestations may include broad nasal fissures is around 3 mm and that of horizontal
bridge, low set ears, and short philtrum [6]. palpebral fissures was 21mm which is suggestive of
Diagnosis of BPES is made on clinical presentation, blepharophimosis [Figures 6 and 7]. There was an
however various genetic aberrations of the gene increase in the size of eyelashes (trichomegaly).
FOXL2 have been also implicated. There was deficient action of the LPS and absent
upper eyelid crease. The corneal examination
Genetics: Blepharophimosis, ptosis, epicanthus
revealed bilateral opacities in lower 1/3rd of the
inversus syndrome is an autosomal dominant
cornea suggestive of healed exposure keratitis.
disorder; the causative gene of which is FOXL2,
Conjunctival examination in both eyes was normal.
which is localized to the 3q23 chromosome. The
Bilateral lenticular examination showed opacities of
genetic aberrations associated are mainly
pearly white color indicating bilateral mature
translocations or interstitial deletions of the 3q23
cataract.
chromosome. The development of the ovary and the
eyelid is affected by the FOXL2 gene [7].n The BCVA of the patient was the perception of light
and projection of rays in all four quadrants. Lacrimal
Case Report sac syringing shows patency of both the
nasolacrimal duct. The fundus examination shows
The present study hereby reports a 65-year-old hazy media due to cataracts. B-scan of both eyes
male who reported to the outpatient department of shows no abnormalities in the posterior segment.
DY Patil hospital Kolhapur with complaints of
decreased vision for the last 6 months. The patient
gave no history of systemic disease, ocular trauma,
or ocular surgeries in the past and allergy to any
medications. The patient had drooping of eyelids
since birth and there was a family history of similar
eyelid complaints in his father, sister, brother,
brother’s daughter, and son (Figure 1).
Pedigree chart
Blepharophimosis was first described by Von Mustarde’s rectangular flap operation is also
Ammon in 1841 and Vignes first described BEPS in considered to give better results than the V-Y
1889 after which it has been repeatedly described in procedure as described by Verwey [18,19]. In this
literature throughout the globe [8]. Treatment of procedure, paramarginal incisions are made first
after which the lids are stretched. This prevents any
damage to the canaliculi and also prevents the
development of postoperative ectropion. The medial
15. Sebastiá R, Herzog Neto G, Fallico E, Lessa S, 18. Aleksandra I, Andrzej Z, Edward L, Bogusław A,
Solari HP, Ventura MP. A one-stage correction of Tomasz Z. Evaluation of the Surgical Treatment
the blepharophimosis syndrome using a for Congenital Blepharoptosis Using Mustarde’s
standard combination of surgical techniques. Modified Method. Pol Przegl Chir.
Aesthetic Plast Surg. 2011;35(5)820-827. 2016;88(3)155-159.
doi: 10.1007/s00266-011-9702-3 [Crossref] [Crossref]