SR589
AR Stargardt Disease (IIA)
Male
Male
SR589
AR Stargardt Disease (IIA)
Male
Male
History
This 66 year old man has noticed a ring of blurriness around his central vision for the last 4 to 5 years. 66 2001
Pedigree
| Age at visit: 74 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 75 years |
| OD | OS | ||
|---|---|---|---|
| OD | |||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 77 years |
| Age at visit: 79 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly607Arg GGG>AGG | IVS30+1321 A>G | AR |
Disease:
Gene:
Allele 1:
Gly607Arg GGG>AGG
Allele 2:
IVS30+1321 A>G
Inheritance:
AR