Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

Purpose: GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild retinitis pigmentosa.

Design: Retrospective case series.