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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...

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Identifiers

PMID: 36264558
DOI: 10.1001/jamaophthalmol.2022.4146
PMCID: PMC9585472

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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