This 50 year old man had some abnormal pigmentation noticed incidentally during a routine examination 10 years earlier. He developed difficulty seeing at night 5 years later and noticed some narrowing of his visual field at age 50.
Age at visit: 50 years (Visit 2) |
Age at visit: 58 years |
Age at visit: 65 years |
Age at visit: 67 years |
Age at visit: 70 years |
Age at visit: 71 years (Visit 2) |
OD | OS | ||
---|---|---|---|
Age at visit: 71 years (Visit 3) |
OD | OS | ||
---|---|---|---|
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AR Retinitis Pigmentosa | MAK | Lys429 insAlu_353bp | Lys429 insAlu_353bp | AR |