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History
This 17 year old female first noted problems with her visual acuity around age 13 when she had trouble seeing the projector from the back of the classroom.
Pedigree
| Age at visit: 16 years |
| Age at visit: 17 years |
| Age at visit: 18 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Val256Val GTG>GTT | Gly1961Glu GGA>GAA | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR