Bone dysplasias may be linked to abnormal ocular findings

Abnormal vitreous, myopia and peripheral cataract with lens subluxation may be associated with heritable skeletal disorders resulting from a mutation in the gene coding for type II collagen, according to a study by researchers in the United Kingdom. There may additionally be a high risk of retinal detachment with a propensity for retinal tears at younger ages because of the defect, the authors noted.

"Reports published before the causative mutations [in the gene coding for type II collagen] were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy," the authors said.

Sarah P. Meredith, MD, and colleagues reviewed 14 patients with a molecularly characterized type II collagenopathy chondrodysplasia. They found that 13 patients had a highly abnormal vitreous appearance. One 11-year-old patient also had a total retinal detachment, while two other children aged 2 years and 4 years had multiple bilateral flat retinal tears, according to the study.

In addition, 10 of 12 patients who had their refraction measured had myopia. Two patients had asymptomatic lens opacities: one associated with bilateral inferiorly subluxed lenses and the other with a zonule and lens coloboma, the authors reported.

The study is published in the September issue of British Journal of Ophthalmology.