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

摘要

Background/aimsThe 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.