Case
SR2762
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR2762
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Highlighted Images
| Age at visit: 49 years | |
| OD | OS |
|---|---|
History
This 49 year old man first noticed night blindness at age 6. He was able to read large print through his late teens. He has never driven a car.
Pedigree
| Age at visit: 48 years |
| Age at visit: 49 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Trp186Stop TGG>TGA | XL |