Case
SR45
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR45
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
History
This 8 year old myopic boy first had some abnormal pigmentation noticed in his retina at age 5. He denies nyctalopia and has no visual complaints.
Pedigree
| Age at visit: 8 years |
| Age at visit: 10 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Gly939 del1gaaG | XL |