Case
SR318
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR318
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Highlighted Images
| Age at visit: 37 years | OD | OS |
|---|---|
History
This 37 year old woman first noticed poor vision in dim light when she was 12 years old. She remembers running into a fence when playing flashlight tag at night. In her early 20's her central vision also began to fail.
Pedigree
| Age at visit: 37 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 39 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 41 years |
| Age at visit: 42 years |
| Age at visit: 45 years |
| Age at visit: 49 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | CERKL | Arg283Stop CGA>TGA | Arg461Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg283Stop CGA>TGA
Allele 2:
Arg461Stop CGA>TGA
Inheritance:
AR