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SR333

AR Stargardt Disease (IIA)

Female

Female

SR333

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 39 years

Fundus Photography - Right - 20/50 -1 sc

Exemplar

Fundus Photography - Left - 20/40 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Gly65Glu GGA>GAA Ala1038Val GCC>GTC AR
Gene:
Allele 1:
Gly65Glu GGA>GAA
Allele 2:
Ala1038Val GCC>GTC
Inheritance:
AR
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