Case
SR425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
History
This 21 year old man first had difficulty seeing the blackboard in kindergarten and could not be corrected better than 20/70 at that time.
Pedigree
| Age at visit: 21 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Phe128 del2gtcTT | XL |