Case
SR1213
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
Hidden
SR1213
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
History
This 27 year old woman first noticed difficulty in dim light when she began driving at age 16.
Pedigree
| Age at visit: 27 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Gly743 ins1ggA | XL |