SR50

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR50

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Age at visit: 19 years
OD OS

History

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
Refraction OS:     -5.00 +3.75 x 85

Pedigree

Teaching Points

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
Age at visit: 20 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gly52Arg G(GA)>A(GA)   XL
Gene:
Allele 1:
Gly52Arg G(GA)>A(GA)
Allele 2:
 
Inheritance:
XL
Cite this case