SR382
AR Stargardt Disease (IIA)
Female
Female
SR382
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 15 years
Fundus Photography - Right - 10/100 sc
Exemplar
Fundus Photography - Left - 10/100 -1 sc
Exemplar
Case Level Images
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 |
Disease:
Gene:
Allele 1:
Phe608Ile TTT>ATT
Allele 2:
IVS40+5 G>A
Inheritance:
AR