| Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. | |
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MedLine Citation:
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PMID: 21921955 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvement--a particularly important group for the ophthalmologist to identify. |
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Authors:
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M P Snead; A M McNinch; A V Poulson; P Bearcroft; B Silverman; P Gomersall; V Parfect; A J Richards |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2011-09-16 |
Journal Detail:
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Title: Eye (London, England) Volume: 25 ISSN: 1476-5454 ISO Abbreviation: Eye (Lond) Publication Date: 2011 Nov |
Date Detail:
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Created Date: 2011-11-14 Completed Date: 2012-01-05 Revised Date: 2012-01-10 |
Medline Journal Info:
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Nlm Unique ID: 8703986 Medline TA: Eye (Lond) Country: England |
Other Details:
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Languages: eng Pagination: 1389-400 Citation Subset: IM |
Affiliation:
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Vitreoretinal Service, Molecular Genetics and Medical Genetics, Cambridge, UK. mps34@cam.ac.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Arthritis
/
complications,
diagnosis*,
genetics Collagen Type II / genetics Collagen Type XI / genetics Connective Tissue Diseases / complications, diagnosis*, genetics Diagnosis, Differential Hearing Disorders / etiology Hearing Loss, Sensorineural / complications, diagnosis*, genetics Humans Jaw Abnormalities / etiology Phenotype Retinal Detachment / complications, diagnosis, etiology*, genetics Vitreous Body / chemistry |
| Chemical | |
Reg. No./Substance:
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0/COL2A1 protein, human; 0/Collagen Type II; 0/Collagen Type XI |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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