This 12 year old boy has had some reduction in visual acuity and photophobia for the past two years.
Age at visit: 12 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AR Stargardt Disease | ABCA4 | Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA | Trp821Arg TGG>AGG | AR |