Type 3 Waardenburg Syndrome.

Kee, Se Young; Lee, Young Chun; Lee, Se Youp

Case Report

Journal of the Korean Ophthalmological Society 2005;46(4):726-730.
Published online April 30, 2005.

Type 3 Waardenburg Syndrome.

Se Young Kee, Young Chun Lee, Se Youp Lee

¹Department of Ophthalmology, College of Medicine, Keimyung University, Daegu, Korea.
²Department of Ophthalmology, College of Medicine, The Catholic University of Korea, Uijongbu, Korea. lsy3379@dsmc.or.kr

3형 와덴버그증후군

기세영¹,이영춘²,이세엽¹

Department of Ophthalmology, College of Medicine, Keimyung University¹, Daegu, Korea Department of Ophthalmology, College of Medicine, The Catholic University of Korea², Uijongbu, Korea

Correspondence: Se-Young Kee, M.D.¹

Abstract

PURPOSE
We report a case of Type 3 Waardenburg syndrome accompanied by intermittent exotropia, which had not previously been encountered in Korea along with the literature study. METHODS: A 5-year-old boy visited as a result of hypochromic heterochromic iridum in the right eye. Suspecting Type 3 Waardenburg syndrome, plain radiography, a hearing test, an alternate prism cover test and fundus examinations were performed and the presence of lateral displacement of the lacrimal puntum was evaluated. RESULTS: The presence of hypochromic heterochromic iridum, dysplasia of the left thumb, sensorineural deafness, dystopia canthorum along with a lateral displacement of the lacrimal puntum, albinism of the posterior pole upon a fundus examination, and intermittent exotropia with a 20 prism diopters of deviation were found. CONCLUSIONS: This patient showed the 4 criteria for a diagnosis of Type 3 Waardenburg syndrome including hypochromic heterochromic iridum, dystopia canthorum along with lateral displacement of the lacrimal puntum, sensorineural deafness, and a muscular system abnormality, i.e., dysplasia of the left thumb. He also showed intermittent exotropia.

Key Words: Dystopia canthorum;Hypochromic heterochromic iridum;Waardenburg syndrome