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

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 refract

SUBMITTER: Meredith SP 

PROVIDER: S-EPMC1954906 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature