SR2593
AR Stargardt Disease (IIA)
Female
Female
SR2593
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 9 years
Fundus Photography - Right - 20/160
Exemplar
Fundus Photography - Left - 20/125 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Pro1720 del2ccCA | Lys2056Stop AAG>TAG | AR |
Disease:
Gene:
Allele 1:
Pro1720 del2ccCA
Allele 2:
Lys2056Stop AAG>TAG
Inheritance:
AR