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.
Age at visit: 8 years |
Age at visit: 10 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
XL Retinitis Pigmentosa | RPGR | Gly939 del1gaaG | XL |