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Article

Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.

British journal of rheumatology - 1 Dec 1994

Rai A, Wordsworth P, Coppock J S, Zaphiropoulos G C, Struthers G R

Abstract excerpt

A number of factors contribute to the pathogenesis of osteoarthritis. Genetic factors are predominant in some cases, including the syndrome of hereditary arthro-ophthalmopathy. The clinical features of the syndrome and the concept of genetic mutations in matrix components are discussed.

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Identifiers

PMID: 8000751
DOI: 10.1093/rheumatology/33.12.1175

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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.

Related research

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Research trail→

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Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.PMID 8000751Read ↗

Genetic aspects of familial osteoarthritis.Semantic proximity Read ↗

Hereditary disorders mimicking and/or causing premature osteoarthritis.Semantic proximity Read ↗

The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).Semantic proximity Read ↗

Heritable diseases of cartilage caused by mutations in collagen genes.Semantic proximity Read ↗

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).Semantic proximity Read ↗

Hereditary hemochromatosis: a neglected diagnosis in orthopedics: a series of 7 patients with ankle arthritis, and a review of the literature.Semantic proximity Read ↗

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.Semantic proximity Read ↗

Current perspectives on the role of orbital fibroblasts in the pathogenesis of Graves' ophthalmopathySemantic proximity Read ↗

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