Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

BMC Ophthalmology

Case Report

Ming-Hui Sun¹  Chi-Chun Lai¹  Yi-Hsing Chen¹  Wei-Chi Wu¹  Shao-Hsuan Hsia² 

[1] Department of Ophthalmology, Chang Gung Memorial Hospital, No. 5, Fu-Hsing Street, 333, Kweishan, Taoyuan, Taiwan;College of Medicine, Chang Gung University, Taoyuan, Taiwan;Department of Ophthalmology, Chang Gung Memorial Hospital, No. 5, Fu-Hsing Street, 333, Kweishan, Taoyuan, Taiwan;Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan;

关键词: Kabuki syndrome;    Colobomatous microphthalmia;    Optic disc dysplasia;    MLL2 gene mutation;   

DOI  :  10.1186/1471-2415-14-143

 received in 2013-05-20, accepted in 2014-11-18,  发布年份 2014

来源: Springer

【 摘 要 】

BackgroundKabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions.Case presentationA 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation.ConclusionThe presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.

【 授权许可】

Unknown   
© Chen et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.