This 21 year old man first had difficulty seeing the blackboard in kindergarten and could not be corrected better than 20/70 at that time.
Age at visit: 21 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
XL Retinitis Pigmentosa | RP2 | Phe128 del2gtcTT | XL |