Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D

Maria L. Stunkel, Scott E. Brodie, Artur V. Cideciyan, Wanda L. Pfeifer, Elizabeth L. Kennedy, Edwin M. Stone, Samuel G. Jacobson, Arlene V. Drack

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.

American Journal of Opthalmology
Publication Date: 
Jun 1 2018
Pubmed ID: