Korean J Ophthalmol > Volume 18(2); 2004 > Article
Korean Journal of Ophthalmology 2004;18(2):185-189.
DOI: https://doi.org/10.3341/kjo.2004.18.2.185    Published online December 30, 2004.
Three Cases of Waardenburg Syndrome Type 2 in a Korean Family.
Joong Hyuk Choi, Sung Kyun Moon, Ki Hwang Lee, Ho Min Lew, Yoon Hee Chang
1Department of Ophthalmology, Ajou University, School of Medicine, Suwon, Korea.
2Department of Otolaryngology, Ajou University, School of Medicine, Suwon, Korea.
Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.
Key Words: auditory-pigment syndrome;dystopia canthorum;iris heterochromia;MITF;PAX3;Waardenburg syndrome

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