SR494

AR Stargardt Disease (IIA)

Female

Female

SR494

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 38 years
OD OS

History

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
Refraction OS:     -4.00 +1.00 x 165

Pedigree

Teaching Points

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
Age at visit: 38 years (Visit 2)
Age at visit: 38 years (Visit 3)
Age at visit: 38 years (Visit 4)
Age at visit: 38 years (Visit 5)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Gly863Ala (G)GA>(G)CA / Arg2030Stop CGA>TGA Ala1038Val GCC>GTC AR
Gene:
Allele 1:
Gly863Ala (G)GA>(G)CA / Arg2030Stop CGA>TGA
Allele 2:
Ala1038Val GCC>GTC
Inheritance:
AR
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