J Korean Ophthalmol Soc > Volume 54(1); 2013 > Article
Journal of the Korean Ophthalmological Society 2013;54(1):176-179.
DOI: https://doi.org/10.3341/jkos.2013.54.1.176    Published online January 15, 2013.
A Case of Waardenburg Syndrome Type 4.
Hyun Chan Shim, Jeong Kyu Kim, Dae Jin Park
Daegu Fatima Hospital, Daegu, Korea. djoph2540@yahoo.co.kr
4형 와덴버그증후군
심현찬⋅김정규⋅박대진
Daegu Fatima Hospital, Daegu, Korea
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.
Key Words: Hirschsprung's disease;Hypochromic heterochromic iridum;Waardenburg syndrome


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