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Article

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

JAMA ophthalmology - 1 Jan 2026

Boranijasevic Sanja, Smirnov Vasily, Navarro Julien, Tjon-Fo-Sang Martha, Condroyer Christel, Haer-Wigman Lonneke, Antonio Aline, Dhaenens Claire-Marie, Verhoeven Virginie J M, Sahel José-Alain, van den Born L Ingeborgh, Defoort Sabine, Audo Isabelle, Zeitz Christina

Abstract excerpt

Importance: Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous inherited retinal disorder (IRD), and in many complete CSNB (cCSNB) cases, the underlying genetic cause remains unknown. Uncovering the genetic defects of IRDs helps to refine diagnostic methods and supports the development of specific therapeutic approaches. Objective: To describe the phenotype and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41343198
DOI: 10.1001/jamaophthalmol.2025.4888
PMCID: PMC12679428

Genes

EGFLAM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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