SR2171
AR Stargardt Disease (IIA)
Female
Female
SR2171
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 51 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly435Val GGG>GTG | Gly1961Glu GGA>GAA | AR |
Disease:
Gene:
Allele 1:
Gly435Val GGG>GTG
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR