Korean J Ophthalmol.  2004 Dec;18(2):185-189. 10.3341/kjo.2004.18.2.185.

Three Cases of Waardenburg Syndrome Type 2 in a Korean Family

• Choi JH
• Moon SK
• Lee KH
• Lew HM
• Chang YH

• KMID: 754386
• DOI: http://doi.org/10.3341/kjo.2004.18.2.185

Abstract

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.

Keyword

auditory-pigment syndrome; dystopia canthorum; iris heterochromia; MITF; PAX3; Waardenburg syndrome

MeSH Terms

Child
DNA Mutational Analysis
DNA-Binding Proteins/genetics
Female
Humans
Korea
Male
Middle Aged
Mutation
Pedigree
Transcription Factors/genetics
Waardenburg's Syndrome/*genetics

Figure

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  Fig. 1 (Top) External photograph of a 10-year-old boy (proband) with bilateral blue iris. There was no evidence of dystopia canthorum. (Center) His right eye showed complete iris hypopigmentation (pale blue eye), and his left eye showed iris hypopigmentation with segmental normal colored iris. (Bottom) Fundus examination demonstrated generalized decrease in retinal pigment with a focal hypopigmented lesion in both eyes.

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  Fig. 2 Pure tone audiogram. Conventional audiological examinations showed profound bilateral sensorineural hearing loss.

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  Fig. 3 (Top) External photograph of a 48-year-old mother of the proband with bilateral blue iris. There was no evidence of dystopia canthorum. (Center) Both her eyes showed bilateral iris isohypochromia (pale blue eyes). (Bottom) Fundus examination demonstrated generalized decrease in retinal pigment with an area of hypopigmentation on the posterior pole in both eyes.

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  Fig. 4 (Top) External photograph of a 9-year-old brother of the proband with iris heterochromia. There was no evidence of dystopia canthorum. (Center) He had a blue-colored iris in his right eye and a dark brown-colored iris in his left eye. (Bottom) Fundus examination demonstrated generalized decrease in retinal pigment with a focal hypopigmented lesion in his right eye and no pigmentary disturbances in his left eye.

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  Fig. 5 (Top) External photograph of an 8-year-old sister of the proband. She had no clinical features of the syndrome. (Bottom) There were no pigmentary disturbances in the fundi.

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  Fig. 6 Pedigree of the family. The arrow indicates the proband. Squares = males; circles = females; solid symbols = persons with the syndrome; open symbols = persons without the syndrome; diagonal marks = deceased.

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