This 57-year-old man had normal vision until his teens when he experienced a sudden loss of vision in the left eye which lasted for 3 or 4 months and then improved.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Best Disease | BEST1 | Tyr227Cys TAC>TGC | AD |