Case
SR583
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR583
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Pedigree
| Age at visit: 26 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 30 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 49 years |
| OD | |||
|---|---|---|---|
| Age at visit: 51 years |
| Age at visit: 52 years (Visit 2) |
| Age at visit: 53 years |
| Age at visit: 55 years |
| Age at visit: 57 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Ala1038Val GCC>GTC / Ala854Thr GCT>ACT | Arg1108Cys CGC>TGC | AR |
Disease:
Gene:
Allele 1:
Ala1038Val GCC>GTC / Ala854Thr GCT>ACT
Allele 2:
Arg1108Cys CGC>TGC
Inheritance:
AR