title: [Stickler syndrome with rhegmatogenous retinal detachment].
abstract: BACKGROUND
  Stickler syndrome is an autosomal dominant disease characterized by various disorders of the eyes and the connective tissues throughout the body. It can arise from a mutation in the collagen associated gene. We present a case of Stickler syndrome with rhegmatogenous retinal detachment.
  
  
  METHODS
  A 10-years-old boy was referred to us with rhegmatogenous retinal detachment of the right eye. His family history included eye disease and a cleft palate. He had high myopia, vitreous liquefaction and lattice degeneration in the both eye. He also had a cleft palate and a broad nasal bridge. His condition was diagnosed as Stickler syndrome. We performed vitrectomy, scleral buckling and encircling, and silicone oil injection in the right eye. We also did a reattachment of the retina in the right eye.
  
  
  CONCLUSIONS
  Pediatric retinal detachment may indicate the presence of Stickler syndrome and a complete examination of the eye as well as a full family history must be obtained in such cases.
authors.affiliation: Department of Ophthalmology, The Jikei University Hospital, Tokyo, Japan. h-iwata@jikei.ac.jp
authors.forename: Hiroka
authors.initials: H
authors.lastname: Watanabe
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kohzaki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kubo
authors.forename: Kiichiro
authors.initials: K
authors.lastname: Okano
authors.forename: Akira
authors.initials: A
authors.lastname: Watanabe
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuneoka
mesh_terms: D002648:Child; D002972:Cleft Palate; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D024022:Fibrillar Collagens / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D056965:Injections, Intraocular; D008297:Male; D009154:Mutation; D009216:Myopia; D009666:Nose / Q000002:abnormalities; D012163:Retinal Detachment / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D012591:Scleral Buckling; D012827:Silicone Oils / Q000008:administration & dosage; D013577:Syndrome; D014821:Vitrectomy; D014822:Vitreous Body
chemical_list: D024022:Fibrillar Collagens; D012827:Silicone Oils