Case
SR784
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR784
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 58 year old woman had some fundus abnormalities noticed incidentally in her mid-fifties.
Pedigree
| Age at visit: 58 years |
| Age at visit: 62 years |
| Age at visit: 68 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Val256Val GTG>GTT | Val643Gly GTG>GGG | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Val643Gly GTG>GGG
Inheritance:
AR