Case
SR2584
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2584
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Pedigree
| Age at visit: 10 years |
| Age at visit: 11 years |
| Age at visit: 12 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 13 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS40+5 G>A | Arg1860 del1cG | AR |
Disease:
Gene:
Allele 1:
IVS40+5 G>A
Allele 2:
Arg1860 del1cG
Inheritance:
AR