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Shim, Kim, and Park: A Case of Waardenburg Syndrome Type 4
Original Article

J Korean Ophthalmol Soc 2013;54(1):176-179.

Published online: 25 September 2013

DOI: https://doi.org/10.3341/jkos.2013.54.1.176

A Case of Waardenburg Syndrome Type 4

Hyun Chan Shim, MD, Jeong Kyu Kim, MD, Dae Jin Park, MD

Daegu Fatima Hospital, Daegu, Korea

Address reprint requests to Dae Jin Park, MD Department of Ophthalmology, Daegu Fatima Hospital #99 Ayang-ro, Dong-gu, Daegu 701-724, Korea Tel: 82-53-940-7140, Fax: 82-53-954-7417, E-mail: djoph2540@yahoo.co.kr

Received 2 June 2012       Accepted 16 August 2012

Copyright © 2013 Korean Ophthalmological Society

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 the first case of Waardenburg syndrome type 4 in Korea.

Case summary

A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The patient had a previous operation Hirschsprung's disease. In addition, his older sister and aunt showed similar ocular findings. A general physical examination, hearing test, and fundus examination were performed. On examination, hypochromic heterochromic iridum, albinism of the posterior pole upon ipsilateral fundus, and dystopia canthorum were found. There was no abnormal finding in the hearing test.

Conclusions

The patient showed hypochromic heterochromic iridum, dystopia canthorum, and albinism of ipsilateral fundus. He also had a family history of Waardenburg syndrome and had surgery associated with congenital megacolon. The patient was diagnosed with Waardenburg syndrome type 4.

Keywords: Hirschsprung's disease, Hypochromic heterochromic iridum, Waardenburg syndrome

References

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Figure 1.
Unilateral hypochromic heterochromic iridum (OD) and dystopia canthorum.
jkos-54-176f1.tif
Figure 2.
Albinoid appearance in the fundus (OD).
jkos-54-176f2.tif
Figure 3.
Simple abdomen X-ray before Duhamel's operation (A) and after Duhamel's operation (B).
jkos-54-176f3.tif
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