A Case of Waardenburg Syndrome Type 4.
10.3341/jkos.2013.54.1.176
- Author:
Hyun Chan SHIM
1
;
Jeong Kyu KIM
;
Dae Jin PARK
Author Information
1. Daegu Fatima Hospital, Daegu, Korea. djoph2540@yahoo.co.kr
- Publication Type:Case Report
- Keywords:
Hirschsprung's disease;
Hypochromic heterochromic iridum;
Waardenburg syndrome
- MeSH:
Albinism;
Child, Preschool;
Hearing Tests;
Hirschsprung Disease;
Humans;
Iris;
Korea;
Male;
Physical Examination;
Siblings;
Waardenburg Syndrome*
- From:Journal of the Korean Ophthalmological Society
2013;54(1):176-179
- CountryRepublic of Korea
- Language:Korean
-
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.
