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Br J Ophthalmol. 2007 Sep;91(9):1148-51. Epub 2007 Mar 8.

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

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1
Vitreoretinal Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Abstract

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 characterised type II collagenopathy chondrodysplasia who had been examined in the ophthalmology clinic was conducted.

RESULTS:

13 of 14 patients had a highly abnormal vitreous appearance. One patient aged 11 presented with a total retinal detachment. Two other children aged 2 and 4 had bilateral flat multiple retinal tears on presentation. 10 of 12 patients refracted were myopic. Two patients had asymptomatic lens opacities: one associated with bilateral inferiorly subluxed lenses and the other with a zonule and lens coloboma.

CONCLUSION:

Heritable skeletal disorders resulting from a mutation in the gene coding for type II collagen are associated with abnormal vitreous, myopia and peripheral cataract with lens subluxation. In bone dysplasias resulting from a defect of type II collagen there is likely to be a high risk of retinal detachment with a propensity to retinal tears at a young age.

PMID:
17347327
PMCID:
PMC1954906
DOI:
10.1136/bjo.2006.112482
[Indexed for MEDLINE]
Free PMC Article
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