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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.

Original publication

DOI

10.1080/13816810500374433

Type

Journal article

Journal

Ophthalmic Genet

Publication Date

12/2005

Volume

26

Pages

181 - 183

Keywords

Abnormalities, Multiple, Diseases in Twins, Face, Growth Disorders, Humans, Infant, Intellectual Disability, Laser Coagulation, Male, Retinal Diseases, Retinal Vessels, Syndrome, Telangiectasis, Twins, Monozygotic