title: Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome).
abstract: OBJECTIVE
  To report a case of Kabuki make-up syndrome (KMS) or Niikawa-Kuroki syndrome with Coats-type retinal telangiectasia, which has not been previously reported.
  
  
  METHODS
  Observational case report.
  
  
  CONCLUSIONS
  There have been only two reports of retinal pigmentation abnormalities and a single case of bilateral macular deposits in KMS, but this is the first report of a Coats type retinal telangiectasia. This case highlights the importance of thorough posterior segment examination in cases of KMS.
authors.affiliation: Specialist Registrar, Oxford Eye Hospital, Woodstock Road, Oxford, OX2 6HE, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Anandan
authors.forename: Neroli J
authors.initials: NJ
authors.lastname: Porter
authors.forename: Andrea H
authors.initials: AH
authors.lastname: Nemeth
authors.forename: Edward
authors.initials: E
authors.lastname: Blair
authors.forename: Susan M
authors.initials: SM
authors.lastname: Downes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D017075:Laser Coagulation; D008297:Male; D012164:Retinal Diseases / Q000235:genetics* / Q000601:surgery; D012171:Retinal Vessels / Q000473:pathology* / Q000601:surgery; D013577:Syndrome; D013684:Telangiectasis / Q000235:genetics* / Q000601:surgery; D014430:Twins, Monozygotic / Q000235:genetics