A Case of Kabuki Syndrome with Ocular Manifestation

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.