This 45 year old man first noticed some blurry vision in his left eye 3 years ago. He and a brother, sister, father and paternal uncle who are affected with muscular dystrophy.
Age at visit: 45 years |
Age at visit: 47 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AD Retinitis Pigmentosa | RHO | Asp190Asn GAC>AAC | AD |