Case
SR450
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR450
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 54 year old woman first noticed reduced visual acuity in her mid 20's.
Pedigree
| Age at visit: 54 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly1961Glu GGA>GAA | Cys2150Tyr TGT>TAT | AR |
Disease:
Gene:
Allele 1:
Gly1961Glu GGA>GAA
Allele 2:
Cys2150Tyr TGT>TAT
Inheritance:
AR