[Ophthalmologic manifestations of Waardenburg syndrome].

The Waardenburg syndrome is a group of rare genetic diseases, which clinical manifestations include neurosensory hearing loss, diminished pigmentation of forelock in the frontal region, iris heterochromia, medial canthus dystopia, and the presence of such changes in first-line relatives. The article presents a clinical case of type I Waardenburg syndrome, which developed de novo in a family. This case is unique in its combination of complete bilateral iris heterochromia and impaired choroidal pigmentation.