This 55 year old myopic man first noticed reduced night vsion and some constriction of his visual field at age 21. As a young child, his best corrected visual acuity was completely normal.

The clinical features supporting the diagnosis of MAK-associated autosomal recessive retinitis pigmentosa in this patient include: night blindness and constricted visual fields (with temporal predilection) as his earliest symptoms; bone-spicule-like pigmentation (with nasal predilection) and narrowed arterioles on fundus examination; loss of outer retinal structures on OCT; a similarly affected sibling; Jewish ethnicity; and, normally sighted parents.