Literature DB >> 16352479

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

M Anandan1, Neroli J Porter, Andrea H Nemeth, Edward Blair, Susan M Downes.   

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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Mesh:

Year:  2005        PMID: 16352479     DOI: 10.1080/13816810500374433

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  3 in total

1.  Salzmann nodular degeneration features in a case of Kabuki make-up syndrome.

Authors:  Amélia Martins; Mariana Almeida Oliveira; Andreia Rosa; Joaquim Murta
Journal:  BMJ Case Rep       Date:  2019-05-30

Review 2.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542

3.  Carotid artery occlusion in Kabuki syndrome: Case report and literature review.

Authors:  Luana A M Gatto; Luis Henrique A Sousa; Gelson Luis Koppe; Zeferino Demartini
Journal:  Surg Neurol Int       Date:  2017-05-26
  3 in total

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