A Case of Waardenburg Syndrome Type 2 With Anisocoria

Seung Chan Lee

doi:10.3341/jkos.2010.51.10.1423

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Lee: A Case of Waardenburg Syndrome Type 2 With Anisocoria

Original Article

J Korean Ophthalmol Soc 2010;51(10):1423-1426.

Published online: 7 September 2010

DOI: https://doi.org/10.3341/jkos.2010.51.10.1423

A Case of Waardenburg Syndrome Type 2 With Anisocoria

Seung Chan Lee, MD

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

Address reprint requests to Seung Chan Lee, MD Department of Ophthalmology, Kangwon National University Hospital #192-1 Hyoja-2dong, Chuncheon 200-722, Korea Tel: 82-33-258-2443, Fax: 82-33-258-2191, E-mail: uncontrolled@medimail.co.kr

Received 8 April 2010 Accepted 8 July 2010

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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. J Korean Ophthalmol Soc 2010;51(10):1423–1426

Keywords: Anisocoria, Heterochromic iris, Neural crest, Waardenburg syndrome

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Figure 1.

Right eye (A) showed segmental (11 o'clock) iris hypopigmentation and left eye (B) showed complete iris hypopigmentation with a dilated pupil.

Figure 2.

Fundus photographs show generalized decrease in retinal pigment with prominent choroidal vasculature (A) right eye, (B) left eye.

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