SR1741

AR Stargardt Disease (IIA)

Female

Female

SR1741

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 14 years
OD OS

Pedigree

Age at visit: 14 years
Age at visit: 16 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Gly607Arg GGG>AGG Gly1961Glu GGA>GAA AR
Gene:
Allele 1:
Gly607Arg GGG>AGG
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR
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