Case
SR1281
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR1281
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Pedigree
| Age at visit: 10 years |
| Age at visit: 12 years |
| Age at visit: 13 years |
| Age at visit: 14 years |
| Age at visit: 15 years |
| Age at visit: 18 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 19 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Thr801 del2acAG | XL |