SR1867
AR Stargardt Disease (IIA)
Female
Female
SR1867
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 14 years
Fundus Photography - Right - 20/25 sc
Exemplar
Fundus Photography - Left - 20/30 -2 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Val256Val GTG>GTT | Leu2027Phe CTC>TTC | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Leu2027Phe CTC>TTC
Inheritance:
AR