This 38 year old woman has a chief complaint of a sudden drop in visual acuity in the right eye two weeks earlier, which was accompanied by new metamorphopsia in that eye. Her visual acuity had been previously normal.
Refraction OD: | -3.50 +0.75 x 005 |
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Refraction OS: | -4.00 +1.00 x 165 |
The clinical features favoring the diagnosis of ABCA4-associated autosomal recessive Stargardt disease in this patient include pisciform flecks in the macula and normally sighted parents. The sudden change in vision in the right eye was caused by a choroidal neovascular membrane, which is an infrequent complication of ABCA4-associated Stargardt disease.
Age at visit: 38 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
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AR Stargardt Disease | ABCA4 | Gly863Ala (G)GA>(G)CA / Arg2030Stop CGA>TGA | Ala1038Val GCC>GTC | AR |