Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)

Ophthalmic Genet. 2005 Dec;26(4):181-3. doi: 10.1080/13816810500374433.

Abstract

Purpose: 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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Diseases in Twins / genetics
  • Face / abnormalities*
  • Growth Disorders / genetics*
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Laser Coagulation
  • Male
  • Retinal Diseases / genetics*
  • Retinal Diseases / surgery
  • Retinal Vessels / pathology*
  • Retinal Vessels / surgery
  • Syndrome
  • Telangiectasis / genetics*
  • Telangiectasis / surgery
  • Twins, Monozygotic / genetics