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Article

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

Clinical genetics - 1 Mar 2018

Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva J-P, Sahel J-A, Audo I, Zeitz C

Abstract excerpt

Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a...

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Source

Identifiers

PMID: 29120066
DOI: 10.1111/cge.13171

Genes

REEP6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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