Editor,—Waardenburg syndrome (WS) is a typical auditory pigmentary syndrome with affected individuals showing varying combinations of sensorineural hearing loss, patchy abnormal pigmentation of the eyes, hair and skin, and various defects of neural crest derived tissues.1-3

This syndrome is both clinically and genetically heterogeneous and is clinically classified into four types.3 Mutations of thePAX3 gene have been identified in WS type 1 and 3, while those of either the endothelin B receptor gene, the endothelin-3 gene or the soxio gene have been identified in WS type 4.4-6 WS type 2 is a heterogeneous group, with about 10% of cases caused by mutations in MITF. But MITF mutations are obviously not the major cause of WS type 2 and for most cases the genetic basis is as yet unknown.

The diagnostic criteria for WS type 2 proposed by Liuet al 1 include, in addition to congenital sensorineural hearing loss and pigmentary disturbances of the hair, pigmentary disturbances of the iris but not of the fundus.

In the two affected boys of the Turkish family presented here, the pattern of fundus pigmentation was one of the most striking clinical features, with dense hyperpigmented areas next to hypopigmented areas. We want to emphasise the importance of a thorough observation of the clinical phenotype and especially of the pattern of fundus pigmentation in WS type 2.