Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

doi:10.1038/eye.2011.201

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Article

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Eye (London, England) - 1 Nov 2011

Snead M P, McNinch A M, Poulson A V, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards A J

Abstract excerpt

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...

Topics

Arthritis
Collagen Type II
Collagen Type XI
Connective Tissue Diseases
Diagnosis, Differential
Hearing Disorders
Hearing Loss, Sensorineural
Humans
Jaw Abnormalities
Phenotype
Retinal Detachment
Vitreous Body

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Identifiers

PMID: 21921955
DOI: 10.1038/eye.2011.201
PMCID: PMC3213659

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