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. The choroid did not only have hypopigmentation zones, but also large areas of hyper- and depigmentation. Such choroidal changes in Waardenburg patients has not been described in literature before. The diagnosis was confirmed by OCT of the anterior and posterior segments, angio-OCT, fluorescein angiography, indocyanine green angiography, fundus autofluorescence, and electrophysiological studies. The main ophthalmologic diagnostic criterion of Waardenburg syndrome in the present case, beside iris heterochromia, was the detection of iris thickness changes in hyper- and hypopigmentation areas with completely preserved structural and functional properties of the retina and choroid.