EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.

ABSTRACT:

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 underlying gene defect in patients with cCSNB from 2 unrelated families.

Design, setting and participants

This retrospective case series was conducted from January 2023 to July 2025. Data for 3 patients from cohorts of genetically unsolved IRD cases in France (n = 140 for CSNB) and the Netherlands (n = 2730 for IRD) were analyzed clinically and genetically.

Exposures

SUBMITTER: Boranijasevic S 

PROVIDER: S-EPMC12679428 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature