Article
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
JAMA ophthalmology - 1 Dec 2022
Smirnov Vasily M, Robert Matthieu P, Condroyer Christel, Navarro Julien, Antonio Aline, Rozet Jean-Michel, Sahel José-Alain, Perrault Isabelle, Audo Isabelle, Zeitz Christina
Abstract excerpt
Importance: Congenital stationary night blindness (CSNB) is an inherited stationary retinal disorder that is clinically and genetically heterogeneous. To date, the genetic association between some cases with CSNB and an unusual complex clinical picture is unclear. Objective: To describe an unreported CSNB phenotype and the associated gene defect in 3 patients from 2 unrelated families. Design, Setting, and...
Topics
- Humans
- Night Blindness
- Retrospective Studies
- Mutation
- Eye Diseases, Hereditary
- Genetic Diseases, X-Linked
- Myopia
- Electroretinography
- Pedigree
- Transcription Factors
- Homeodomain Proteins