title: Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.affiliation: Vitreoretinal Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
authors.forename: Sarah P
authors.initials: SP
authors.lastname: Meredith
authors.forename: Allan J
authors.initials: AJ
authors.lastname: Richards
authors.forename: Philip
authors.initials: P
authors.lastname: Bearcroft
authors.forename: Arabella V
authors.initials: AV
authors.lastname: Pouson
authors.forename: Martin P
authors.initials: MP
authors.lastname: Snead
mesh_terms: D000328:Adult; D002386:Cataract / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009216:Myopia / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics; D012189:Retrospective Studies; D014822:Vitreous Body / Q000002:abnormalities
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II