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Article

Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.

Acta ophthalmologica - 1 Aug 2026

Spanic Filip, Michiels Christelle, Navarro Julien, Antonio Aline, Condroyer Christel, Andrieu Camille, Gipsy Billy, Berthémy-Pellet Sylvie, Gallice Mathilde, Audo Isabelle, Zeitz Christina

Abstract excerpt

PURPOSE: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia. Most cases are caused by variants in NYX, TRPM1, GRM6, GPR179 or LRIT3. This study aimed to identify the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

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Share to Myopia, Degenerative

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Source

Open in PubMed Open full text

Identifiers

PMID: 41729106
DOI: 10.1111/aos.70094
PMCID: PMC13353614

Genes

NYX
GPR179
GRM6
TRPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.PMID 41729106Read ↗

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