Article
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
American journal of ophthalmology - 1 Jun 2018
Stunkel Maria L, Brodie Scott E, Cideciyan Artur V, Pfeifer Wanda L, Kennedy Elizabeth L, Stone Edwin M, Jacobson Samuel G, Drack Arlene V
Abstract excerpt
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. METHODS: Multicenter study of 5 patients (3 male, 2 female). RESULTS: All patients presented...
Topics
- Adolescent
- Child
- Cone-Rod Dystrophies
- Dark Adaptation
- Electroretinography
- Eye Diseases, Hereditary
- Female
- Genes, Recessive
- Genetic Diseases, X-Linked
- Guanylate Cyclase
- Humans
- Leber Congenital Amaurosis
- Male