Case
SR1060
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1060
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Highlighted Images
| Age at visit: 40 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 40 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 43 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 45 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