Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

doi:10.1016/j.ajhg.2020.04.018

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Article

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

American journal of human genetics - 4 Jun 2020

Mechaussier Sabrina, Almoallem Basamat, Zeitz Christina, Van Schil Kristof, Jeddawi Laila, Van Dorpe Jo, Dueñas Rey Alfredo, Condroyer Christel, Pelle Olivier, Polak Michel, Boddaert Nathalie, Bahi-Buisson Nadia, Cavallin Mara, Bacquet Jean-Louis, Mouallem-Bézière Alexandra, Zambrowski Olivia, Sahel José Alain, Audo Isabelle, Kaplan Josseline, Rozet Jean-Michel, De Baere Elfride, Perrault Isabelle

Abstract excerpt

Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD,...

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Identifiers

PMID: 32470375
DOI: 10.1016/j.ajhg.2020.04.018
PMCID: PMC7273530

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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