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 |