A Case of Kabuki Syndrome with Ocular Manifestation.
10.3341/jkos.2007.48.12.1728
- Author:
Hun Sub LIM
1
;
Jae Hong AHN
;
Seung Soo RHO
;
Ho Min LEW
;
Yoon Hee CHANG
Author Information
1. Department of Ophthalmology, Ajou University School of Medicine, Suwon, Korea. yhchang@ajou.ac.kr
- Publication Type:Case Report
- Keywords:
Kabuki syndrome;
Ocular manifestations
- MeSH:
Amblyopia;
Astigmatism;
Blinking;
Child;
Dyskinesias;
Exotropia;
Eyelids;
Female;
Humans;
Intellectual Disability;
Jaw;
Ophthalmology;
Palate;
Sclera;
Strabismus;
Uvula;
Visual Acuity
- From:Journal of the Korean Ophthalmological Society
2007;48(12):1728-1730
- CountryRepublic of Korea
- Language:Korean
-
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.
