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Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen
  1. Sarah P Meredith1,
  2. Allan J Richards2,
  3. Philip Bearcroft3,
  4. Arabella V Pouson1,
  5. Martin P Snead1
  1. 1
    Vitreoretinal Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  2. 2
    Department of Pathology, University of Cambridge, Cambridge, UK
  3. 3
    Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  1. Mr Martin P Snead, Vitreoretinal Service, BOX 41, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 2QQ, UK; mps34{at}cam.ac.uk

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.

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Footnotes

  • Competing interests: None.

  • Informed consent was obtained for publication of figure 1.

  • Abbreviations:
    SEDC

    spondyloepiphyseal dysplasia

    SEMD

    spondyloepimetaphyseal dysplasia Strudwick type

    SPD

    spondyloperipheral dysplasia

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