SR1483
AR Stargardt Disease (IIA)
Male
Male
SR1483
AR Stargardt Disease (IIA)
Male
Male
Highlighted Images
| Age at visit: 44 years | OD | OS |
|---|---|
History
This 44 year old man first had difficulty seeing the black board at age 14.
Pedigree
| Age at visit: 44 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS40+5 G>A | Arg2077Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
IVS40+5 G>A
Allele 2:
Arg2077Trp CGG>TGG
Inheritance:
AR