AOR
Archives of Ophthalmological Research

The Archives of Ophthalmological Research aims to publish issues related to publish articles of the highest scientific and clinical value at an international level, and accepts articles on these topics. The target audience of the journal included specialists and physicians working in ophthalmology, and other health professionals interested in these fields.

eISSN: 3023-6479
Creative Commons CC BY-NC-ND 4.0 International License.
EndNote Style

Online Manuscript System

Index
Case Report
A Kabuki syndrome presenting with strabismus: case report
Abstract
Kabuki syndrome affects many systems and is characterized by a typical facial appearance and is a genetically inherited disease. Ophthalmological involvement is quite common and can be diagnostic. In this article, we aimed to present the ophthalmological findings of our patient with Kabuki syndrome, who was diagnosed and treated based on ophthalmological findings.

Keywords : Kabuki syndrome, strabismus, KMT2D gene defect

Download Article


1. Boniel S, Szymanska K, Smigiel R, Szczaluba K. Kabuki syndrome-clinical review with molecular aspects.Genes.2021;12(4):468.
2. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencingidentifies MLL2 mutations as a cause of Kabuki syndrome.NatGenet.2011;42(9):790-793.
3. Bögershausen N, Wollnik B. Unmasking Kabuki syndrome.ClinGenet.2013;83(3):201-211.
4. Ünalp A, Giray Ö. Kabuki-make up sendromu: olgu sunumu. J DokuzEylül Univ Med Fac. 2008;22(1):23-26.
5. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabukimake-up syndrome: a syndrome of mental retardation, unusual facies,large and protruding ears, and postnatal growth deficiency. J Pediatr,1981:99(4):565-569.
6. Schrander-Stumpel CTR, Spruyt L, Curfs LM, Defloor T, Schrander JJ.Kabuki syndrome: clinical data in 20 patients, literature review, andfurther guidelines for preventive management.Am J Med Genet PartA.2005;132(3):234-243.
7. Şenel A, Artunay Ö, Yüzbaşıoğlu E, Rasier R, Şengül A, BahçecioğluH. Göz bulgularıyla tanıya gidilen bir Kabuki sendromuolgusu.Turkiye Klin J Ophthalmol.2012;21(2):117-119.
8. Usluer E, Sayın GY, Güneş N, Kasap B, Tüysüz B. Investigationof genetic and phenotypic heterogeneity in 37 Turkish patientswith Kabuki and Kabuki-like phenotype.Am J Med Genet Part A.2022;188(10):2976-2987.
9. Ming JE, Russell KL, Bason L, McDonald-McGinn DM, ZackaiEH. Coloboma and other ophthalmologic anomalies in Kabukisyndrome: distinction from charge association. Am J Med Genet PartA.2003;123(3):249-252.
Article available in :
Volume 1, Issue 2, 2024
Page : 29-30
https://doi.org/10.51271/AOR-0009
Article Information
Received : 14 Apr 2024
Accepted : 23 Apr 2024
Published : 30 Apr 2024
Corresponding Author :

Sabiha Güngör Kobat: Department of Ophthalmology, Faculty of Medicine, Fırat University, Elazığ, Turkiye

[email protected]
Citation : Seziş SC, Baş MF, Güngör Kobat S. A Kabuki syndrome presenting with strabismus: case report. Arch Ophthalmol Res. 2024;1(2):29-30.

Read: 532
Download : 1070
Cited: 0
_Footer