This 17 year old male first noticed reduced night vision before age 5 years. At that time, his best corrected visual acuity was completely normal. More recently, he has noticed a progressive constriction of his peripheral vision.

The clinical features supporting the diagnosis of X-linked retinitis pigmentosa in this patient include: night blindness as his earliest symptom; bone-spicule-like pigmentation and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; onset before age 20; a history of progressive worsening of his visual fields; a similarly affected maternal grandfather and maternal uncle; and, a more mildly affected mother and great aunt.