Case
SR2695
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2695
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Highlighted Images
| Age at visit: 10 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 8 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 9 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 10 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 11 years |
| Age at visit: 13 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS21-2 A>G | Pro1380Leu CCG>CTG | AR |
Disease:
Gene:
Allele 1:
IVS21-2 A>G
Allele 2:
Pro1380Leu CCG>CTG
Inheritance:
AR