Loading...

SR254

AR Stargardt Disease (IIA)

Female

Female

SR254

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 41 years

Fundus Photography - Right - Count Fingers 3' sc

Exemplar

Fundus Photography - Left - 20/200 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 IVS36+1137 G>A IVS38-10T>C AR
Gene:
Allele 1:
IVS36+1137 G>A
Allele 2:
IVS38-10T>C
Inheritance:
AR
Cite this case