This 39 year old man has no visual complaints but scattered white spots were recently seen in his retina on routine examination.
Age at visit: 39 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AR Stargardt Disease | ABCA4 | IVS30+1321 A>G | Gly1977Ser GGC>AGC | AR |