SR341
AR Stargardt Disease (IIA)
Female
Female
SR341
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 8 years
Fundus Photography - Right - 20/100 -1
Exemplar
Fundus Photography - Left - 20/80
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Pro1380Leu CCG>CTG | Met1984Arg ATG>AGG | AR |
Disease:
Gene:
Allele 1:
Pro1380Leu CCG>CTG
Allele 2:
Met1984Arg ATG>AGG
Inheritance:
AR