SR1514

AR Stargardt Disease (IIA)

Female

Female

SR1514

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 29 years
OD OS

Pedigree

Age at visit: 29 years
Age at visit: 32 years
Age at visit: 47 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Arg1108His CGC>CAC Pro1380Leu CCG>CTG AR
Gene:
Allele 1:
Arg1108His CGC>CAC
Allele 2:
Pro1380Leu CCG>CTG
Inheritance:
AR
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