Case
SR136
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR136
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Highlighted Images
| Age at visit: 56 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 56 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | SNRNP200 | Pro1045Thr CCT>ACT | Pro1045Thr CCT>ACT | AR |
Disease:
Gene:
Allele 1:
Pro1045Thr CCT>ACT
Allele 2:
Pro1045Thr CCT>ACT
Inheritance:
AR