SR2574

AR Stargardt Disease (IIA)

Male

Male

SR2574

AR Stargardt Disease (IIA)

Male

Male

Highlighted Images

Age at visit: 53 years
OD OS

Pedigree

Age at visit: 53 years
Age at visit: 54 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 IVS40+5 G>A Gly1961Glu GGA>GAA AR
Gene:
Allele 1:
IVS40+5 G>A
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR
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