SR234

AR Stargardt Disease (IIA)

Female

Female

SR234

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 51 years
OD OS

Pedigree

Age at visit: 51 years

Diagnosis & molecular findings

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