Case
SR481
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR481
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Highlighted Images
| Age at visit: 72 years | |
| OD | OS |
|---|---|
Pedigree
| Age at visit: 72 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Ala1038Val GCC>GTC / Leu541Pro CTA>CCA | Ala1038Val GCC>GTC / Leu541Pro CTA>CCA | AR |
Disease:
Gene:
Allele 1:
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA
Allele 2:
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA
Inheritance:
AR