Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in<i>PROM1</i>

Abstract

A remarkable clinical finding in the affected family is early macular atrophy with concentric spared areas. The authors propose that the hallmark of PROM1 truncating mutations is early and severe progressive degeneration of both rods and cones and highlight this gene as a candidate of choice to prioritize in the molecular genetic study of patients with noncanonical clinical peripheral and macular affectation.