Article Text

other Versions

PDF
Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen
  1. Sarah P Meredith (spmeredith{at}doctors.org.uk),
  2. Allan J Richards (ar204{at}cam.ac.uk),
  3. Philip Bearcroft (philip.bearcroft{at}addenbrookes.nhs.uk),
  4. Arabella V Poulson (arabella.poulson{at}addenbrookes.nhs.uk),
  5. Martin P Snead (mps34{at}cam.ac.uk)
  1. Department of Pathology, University of Cambridge, United Kingdom
  2. Department of Pathology, University of Cambridge, United Kingdom
  3. Department of Radiology, Camrbidge University Hospitals NHS Trust, United Kingdom
  4. Vitreoretinal Service, Cambridge University Hospitals NHS Trust, United Kingdom
  5. Vitreoretinal Service, Cambridge University Hospitals NHS Trust, United Kingdom

    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 vitreoretinopathy1,2.

    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.

    • Kniest dysplasia
    • Spondyloepimetaphyseal dysplasia
    • Spondyloepiphyseal dysplasia
    • type II collagen
    • vitreous

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.