SR1867
AR Stargardt Disease (IIA)
Female
Female
SR1867
AR Stargardt Disease (IIA)
Female
Female
Highlighted Images
| Age at visit: 14 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 14 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Val256Val GTG>GTT | Leu2027Phe CTC>TTC | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Leu2027Phe CTC>TTC
Inheritance:
AR