July 1978

Heterogeneity in Waardenburg's SyndromeReport of a Family With Ocular Albinism

Author Affiliations

From the Department of Ophthalmology, Kaiser-Permanente Medical Center, Sacramento, Calif, and the Department of Ophthalmology, University of California, School of Medicine, Davis.

Arch Ophthalmol. 1978;96(7):1193-1198. doi:10.1001/archopht.1978.03910060027006

• A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity.

This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides. Observations on this family support prior suggestions of heterogeneity in WS.