This 41 year old man was struck in the eye with a BB at age 12 and has had poor acuity in that eye since. At age 38 he noticed decreased acuity in his good eye while playing golf. His father died at age 62 from cancer and had some vision problem that caused him to watch TV eccentrically. He sees normally in dim light but has been very light sensitive for years. His father's father was also visually impaired by age 40.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Cone and Cone Rod Dystrophy | CRX | Cys202 del1tG | AD |