This 17 year old female first experienced poor night vision when she was five years old. Her parents report that she would feel along walls when the light became dim.
Age at visit: 21 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AD Retinitis Pigmentosa | PRPF31 | IVS10+1 G>A | AD |