A Case of Waardenburg Syndrome Type 2 With Anisocoria.

Lee, Seung Chan

doi:2010.51.10.1423

J Korean Ophthalmol Soc > Volume 51(10); 2010 > Article

Case Report

Journal of the Korean Ophthalmological Society 2010;51(10):1423-1426.
DOI: https://doi.org/10.3341/jkos.2010.51.10.1423 Published online October 15, 2010.

A Case of Waardenburg Syndrome Type 2 With Anisocoria.

Seung Chan Lee

Department of Ophthalmology, Kangwon National University School of Medicine, Chuncheon, Korea. uncontrolled@medimail.co.kr

동공부등을 동반한 2형 와덴버그증후군 1예

이승찬

Department of Ophthalmology, Kangwon National University School of Medicine, Chuncheon, Korea

Abstract

PURPOSE
To report a case of Type 2 Waardenburg syndrome with anisocoria. CASE SUMMARY: A 53-year-old woman with congenital deafness visited the clinic complaining of photophobia and heterochromic iris in the left eye. Her best-corrected visual acuity was 1.0 in the right eye and 0.7 in the left eye. The patient's left eye showed complete iris hypopigmentation, and the right eye showed segmental iris hypopigmentation. Fundus examination demonstrated generalized decrease in retinal pigment with focal hypopigmented lesions in both eyes. The pupil sizes were 3 mm in the right eye and 5 mm in the left eye. A pure tone audiogram showed profound bilateral sensorineural hearing loss. CONCLUSIONS: In the present case, mydriasis was found to exist in a completely hypopigmented iris. Therefore, the neural crest from which the pupillary constrictor muscle originates may play a role in the pathogenesis of Waardenburg syndrome.

Key Words: Anisocoria;Heterochromic iris;Neural crest;Waardenburg syndrome