SR385
AR Stargardt Disease (IIA)
Female
Female
SR385
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 60 years
Fundus Photography - Right - 3/160
Exemplar
Fundus Photography - Left - 5/350
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Ala1038Val GCC>GTC / Leu541Pro CTA>CCA | Ser1689Pro TCC>CCC | AR |
Disease:
Gene:
Allele 1:
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA
Allele 2:
Ser1689Pro TCC>CCC
Inheritance:
AR