Case
SR677
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR677
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
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.
Pedigree
Jewish ethnicity
| 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 | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | MAK | Lys429 insAlu_353bp | Lys429 insAlu_353bp | AR |
Disease:
Gene:
Allele 1:
Lys429 insAlu_353bp
Allele 2:
Lys429 insAlu_353bp
Inheritance:
AR