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Article

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Scientific reports - 22 Sept 2017

Stanton Chloe M, Borooah Shyamanga, Drake Camilla, Marsh Joseph A, Campbell Susan, Lennon Alan, Soares Dinesh C, Vallabh Neeru A, Sahni Jayashree, Cideciyan Artur V, Dhillon Baljean, Vitart Veronique, Jacobson Samuel G, Wright Alan F, Hayward Caroline

Abstract excerpt

Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by extensive sub-retinal pigment epithelium (RPE) deposits, RPE atrophy, choroidal neovascularisation and photoreceptor cell death associated with severe visual loss. L-ORD shows striking phenotypic similarities to age-related macular degeneration (AMD), a common and genetically complex disorder, which can lead...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28939808
DOI: 10.1038/s41598-017-11898-3
PMCID: PMC5610255

Genes

RPE

Provenance

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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