Case
SR238
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Hidden
SR238
Student Mode
Pattern Dystrophy (IIC)
Male
Male
History
This 60 year old man complains of "broken lines" and distortion in his right eye. His grandmother was blind from "Retinitis Pigmentosa".
Pedigree
| Age at visit: 63 years |
| Age at visit: 65 years |
| Age at visit: 68 years |
| Age at visit: 71 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pattern Dystrophy | PRPH2 | Arg46Stop CGA>TGA | AD |