Waardenburg's Syndrome With Fundus and Other Anomalies

Arch Ophthalmol. 1966;76(6):797-810. doi:10.1001/archopht.1966.03850010799005.
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Waardenburg's syndrome is a rare disease of autosomal dominant inheritance. It is characterized by lateral displacement of the inner canthi and the inferior lacrimal puncta, prominence of the root of the nose and of the medial portions of the brows, congenital deafness, white forelock, and heterochromia iridum (one blue eye and one brown eye).

It has not been emphasized previously that the characteristic variations in iris pigmentation are paralleled by the patterns of pigmentation of the fundus. Study of 14 new cases of Waardenburg's syndrome in patients of different racial origin reveals that the hypochromic iris (usually light blue) is characteristically associated with a homolateral blond or albinoid fundus. When the iris hypochromia happens to be bilateral, fundus hypochromia is characteristically also bilateral. The hyperchromic iris (usually shades of brown) is characteristically associated with a homolateral brunet fundus. Unilateral iris bicolor (patches of brown and light blue) is sometimes associated


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