SR1804
AR Stargardt Disease (IIA)
Female
Female
SR1804
AR Stargardt Disease (IIA)
Female
Female
History
This 15 year old female began having difficulty following the flight of a tennis ball last year.
Pedigree
| Age at visit: 14 years |
| Age at visit: 15 years |
| Age at visit: 16 years |
| Age at visit: 17 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly863Ala (G)GA>(G)CA | Arg2077Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
Gly863Ala (G)GA>(G)CA
Allele 2:
Arg2077Trp CGG>TGG
Inheritance:
AR