Case
SR1119
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR1119
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Highlighted Images
| Age at visit: 11 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 11 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 12 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 13 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Thr801 del2acAG | XL |