This 19 year old myopic man first noticed reduced night vision and some constriction of his visual field at age 7 years. At that time, his best corrected visual acuity was completely normal.
Refraction OD: | -5.75 +3.50 x 96 |
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Refraction OS: | -5.00 +3.75 x 85 |
The clinical features supporting the diagnosis of X-linked retinitis pigmentosa in this patient include: night blindness and constricted visual fields as his earliest symptoms; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; onset before age 20; and, a similarly affected maternal grandfather.
Age at visit: 19 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
XL Retinitis Pigmentosa | RPGR | Gly52Arg G(GA)>A(GA) | XL |