A Case of Kabuki Syndrome with Ocular Manifestation.

Lim, Hun Sub; Ahn, Jae Hong; Rho, Seung Soo; Lew, Ho Min; Chang, Yoon Hee

doi:2007.48.12.1728

J Korean Ophthalmol Soc > Volume 48(12); 2007 > Article

Case Report

Journal of the Korean Ophthalmological Society 2007;48(12):1728-1730.
DOI: https://doi.org/10.3341/jkos.2007.48.12.1728 Published online December 31, 2007.

A Case of Kabuki Syndrome with Ocular Manifestation.

Hun Sub Lim, Jae Hong Ahn, Seung Soo Rho, Ho Min Lew, Yoon Hee Chang

Department of Ophthalmology, Ajou University School of Medicine, Suwon, Korea. yhchang@ajou.ac.kr

안과적 이상을 동반한 가부키 증후군 1예

임헌섭,안재홍,노승수,유호민,장윤희

Department of Ophthalmology, Ajou University School of Medicine, Suwon, Korea

Correspondence: Yoon Hee Chang, M.D.

Abstract

PURPOSE
Kabuki syndrome is a rare syndrome of multiple congenital anomalies and mental retardation, which is characterized by a peculiar face resembles Kabuki actor, postnatal growth retardation, and skeletal abnormalities. The ocular feature such as strabismus, amblyopia, ptosis, blue sclera and long palpebral fissure with eversion of the lateral portion of lower eyelid can be seen in this syndrome. We experienced a Kabuki syndrome patient with ocular feature. CASE SUMMARY: A 6 years old girl visited ophthalmology department for frequent blinking, abnormal movement of eyelid. She showed growth retardation, high palate arch, bifid uvula and low hairline. Best corrected visual acuity was 0.5 in the right eye and 0.4 in the left eye. She also presented with mixed astigmatism (right: +sph 1.00;-cyl 3.00 Ax 180, left: +sph 1.00;-cyl 3.50 Ax 180). In addition, Marcus-Gunn jaw winking in her left eye and a long palpebral fissure were noted. She had intermittent exotropia and a tilted optic disc in the left eye.

Key Words: Kabuki syndrome;Ocular manifestations