This 65 year old man first experienced nyctalopia and constriction of his visual fields in his 40's. There is a family history of retinitis pigmentosa in his father and a niece.
Age at visit: 65 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AD Choroideremia | RPE65 | Asp477Gly GAT>GGT | AD |