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Article

Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.

Human molecular genetics - 15 May 2006

Shu Xinhua, Tulloch Brian, Lennon Alan, Vlachantoni Dafni, Zhou Xinzhi, Hayward Caroline, Wright Alan F

Abstract excerpt

Late-onset retinal macular degeneration (L-ORMD) is an autosomal dominant condition resembling age-related macular degeneration (AMD) in which a key pathological feature is a thick extracellular sub-retinal pigment epithelial (RPE) deposit. L-ORMD is caused by mutation in the C1QTNF5 (CTRP5) shor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16600989
DOI: 10.1093/hmg/ddl091

Genes

RPE
MFRP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16600989-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.PMID 16600989Read ↗

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.Semantic proximity Read ↗

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

A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.Semantic proximity Read ↗

CTRP5 Is a Membrane-Associated and Secretory Protein in the RPE and Ciliary Body and the S163R Mutation of CTRP5 Impairs Its SecretionSemantic proximity Read ↗

Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.Semantic proximity Read ↗

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.Semantic proximity Read ↗

The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.Semantic proximity Read ↗

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.Semantic proximity Read ↗

Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.Semantic proximity Read ↗

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Spatial and Temporal Expression of MFRP and Its Interaction with CTRP5Semantic proximity Read ↗

Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.Semantic proximity Read ↗

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