Case
SR2167
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2167
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 70 year old woman failed a school vision screening test at age 12.
Pedigree
| Age at visit: 70 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Cys54Tyr (T)GC>(T)AC | IVS40+5 G>A | AR |
Disease:
Gene:
Allele 1:
Cys54Tyr (T)GC>(T)AC
Allele 2:
IVS40+5 G>A
Inheritance:
AR