Case
SR1497
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1497
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 12 year old boy first had trouble reading when he was 9 years old.
Pedigree
| Age at visit: 12 years |
| Age at visit: 13 years |
| Age at visit: 15 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Leu541Pro CTA>CCA, Ala1038Val GCC>GTC | Gln1003Stop CAG>TAG | AR |
Disease:
Gene:
Allele 1:
Leu541Pro CTA>CCA, Ala1038Val GCC>GTC
Allele 2:
Gln1003Stop CAG>TAG
Inheritance:
AR