title: A case of Kniest dysplasia with retinal detachment and the mutation analysis.
abstract: OBJECTIVE
  To report a case of Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation.
  
  
  METHODS
  Interventional case report.
  
  
  METHODS
  DNA was isolated from peripheral lymphocytes, and mutational analysis was carried out using polymerase chain reaction and direct sequencing.
  
  
  RESULTS
  A 14-year-old Japanese boy was diagnosed with Kniest dysplasia, and ophthalmic examination revealed a retinal detachment in the right eye. He was successfully treated by vitrectomy and silicon oil injection, and his visual acuity improved from 0.01 to 0.22. DNA analysis of COL2A1 revealed a single base-pair substitution at position +5 of intron 20.
  
  
  CONCLUSIONS
  Vitrectomy and silicon oil injection were effective in reattaching the retinal detachment in a Kniest dysplasia patient. The genetic alteration found in this patient suggested that this prevented the normal splicing of COL2A1, resulting in an abnormal type II collagen product.
authors.affiliation: Department of Ophthalmology, Juntendo University, School of Medicine, Tokyo, Japan. yokoyama@med.juntendo.ac.jp
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yokoyama
authors.forename: Satoru
authors.initials: S
authors.lastname: Nakatani
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
mesh_terms: D000293:Adolescent; D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012163:Retinal Detachment / Q000235:genetics* / Q000601:surgery; D012827:Silicone Oils / Q000627:therapeutic use; D014792:Visual Acuity; D014821:Vitrectomy
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D012827:Silicone Oils