This 7-year-old boy is having difficulty seeing the blackboard at school. He was first diagnosed with an eye disease at age 6 or 7, when he failed a school vision screening test. Since his late 20's he has experienced problems in low-light conditions. Although, men and women in his mother's family are affected, there is no male to male transmission and the males are more severely affected than the females.
Age at visit: 34 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
XL Retinitis Pigmentosa | RPGR | Gln710Stop CAG>TAG | XL |