Case
SR2116
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2116
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 63 year old woman was 20/20 until age 52 at which point she began developing a slight reduction in VA OU.
Pedigree
| Age at visit: 60 years |
| OD | |||
|---|---|---|---|
| Age at visit: 63 years |
| Age at visit: 85+ (Visit 1) |
| Age at visit: 85+ (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 85+ (Visit 3) |
| Age at visit: 85+ (Visit 4) |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Glu1122Lys GAG>AAG | Unknown | AR |
Disease:
Gene:
Allele 1:
Glu1122Lys GAG>AAG
Allele 2:
Unknown
Inheritance:
AR