Case
SR739
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR739
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
This 29 year old man has been highly myopic (-12.00) since childhood. He recently failed the vision assessment for his drivers license (both acuity and visual field).
Pedigree
| Age at visit: 36 years |
| Age at visit: 41 years |
| Age at visit: 42 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 42 years (Visit 3) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 43 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 44 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 46 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | FAM161A | Arg437Stop AGA>TGA | Arg437Stop AGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg437Stop AGA>TGA
Allele 2:
Arg437Stop AGA>TGA
Inheritance:
AR