SR369
AR Stargardt Disease (IIA)
Male
Male
SR369
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 15 years
Fundus Photography - Right - 20/32
Exemplar
Fundus Photography - Left - 20/32
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Arg1098Cys CGC>TGC | Thr1112Asn ACC>AAC | AR |
Disease:
Gene:
Allele 1:
Arg1098Cys CGC>TGC
Allele 2:
Thr1112Asn ACC>AAC
Inheritance:
AR