Pathogenic Variants and Congenital Stationary Night Blindness

What is the underlying gene defect in patients with genetically unsolved complete congenital stationary night blindness (cCSNB) representing a dysfunction of the ON-bipolar cell signaling in the retina?This case series reports on 3 patients of 2 unrelated families of Moroccan ancestry with cCSNB harboring 2 different pathogenic variants in . This gene codes for a protein localized in the outer plexiform layer, which is essential for ON-bipolar cell signaling in the retina, explaining the phenotype of these patients.This work led to the discovery of a gene defect implicated in cCSNB to be included in the genetic analysis of inherited retinal disease cases.

Corresponding Authors: Christina Zeitz, PhD, Department of Genetics, Institut de la Vision, Sorbonne Université, INSERM, CNRS, 17 Rue Moreau, 75012 Paris, France (christina.zeitz@inserm.fr); Vasily Smirnov, MD, PhD, Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France (vasily.smirnov@inserm.fr).

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