This 47 year old man was asymptomatic when he had "drusen" noticed on a routine exam at age 30. There is some history of adult onset macular disease in his father's family.
Age at visit: 47 years |
Age at visit: 48 years |
Age at visit: 49 years |
Age at visit: 50 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Pattern Dystrophy | PRPH2 | Cys213Tyr TGC>TAC | AD |