Case Reports
doi: 10.1080/13816810500374433.
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)
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- PMID: 16352479
- DOI: 10.1080/13816810500374433
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Case Reports
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)
Ophthalmic Genet.
2005 Dec.
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.
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