SR382

AR Stargardt Disease (IIA)

Female

Female

SR382

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 15 years
OD OS

Pedigree

Age at visit: 15 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Phe608Ile TTT>ATT IVS40+5 G>A AR
Gene:
Allele 1:
Phe608Ile TTT>ATT
Allele 2:
IVS40+5 G>A
Inheritance:
AR
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