Article
Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.
The British journal of ophthalmology - 1 Sept 2007
Meredith Sarah P, Richards Allan J, Bearcroft Philip, Pouson Arabella V, Snead Martin P
Abstract excerpt
BACKGROUND/AIMS: The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy. METHODS: A retrospective notes search of patients with a molecularly...
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