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 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.

• Authors: Sarah P Meredith, Allan J Richards, Philip Bearcroft, Arabella V Pouson, Martin P Snead
• Journal: The British journal of ophthalmology (Br J Ophthalmol) Vol. 91 Issue 9 Pg. 1148-51 (Sep 2007) ISSN: 0007-1161 [Print] England
• PMID: 17347327 (Publication Type: Journal Article)

Chemical References

• COL2A1 protein, human
• Collagen Type II

Topics

• Adult
• Cataract (genetics)
• Child
• Child, Preschool
• Collagen Type II (genetics)
• Eye Diseases, Hereditary (genetics)
• Female
• Humans
• Infant
• Male
• Mutation
• Myopia (genetics)
• Osteochondrodysplasias (genetics)
• Retinal Diseases (genetics)
• Retrospective Studies
• Vitreous Body (abnormalities)