SR2157

AR Stargardt Disease (IIA)

Female

Female

SR2157

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 56 years
OD OS

History

This 56 year old woman had normal vision until her mid 30s when she noticed some metamorphopsia in both eyes. She also feels that her color vision is not normal.

Pedigree

Age at visit: 56 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Leu2027Phe CTC>TTC IVS40+5 G>A AR
Gene:
Allele 1:
Leu2027Phe CTC>TTC
Allele 2:
IVS40+5 G>A
Inheritance:
AR
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