SR2552
XL Retinitis Pigmentosa (IA1ai)
Male
Male
SR2552
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Visit at age: 29 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Tyr1085 del1taC | XL |