Branch retinal vein occlusion in a patient with Waardenburg syndrome.

A 43-year-old woman (case II-2) with dystopia canthorum, white forelock, blue iris in the left eye, hypopigmented fundi, and systemic hypertension complained of visible floaters in the left eye. Whitish branch retinal vein, preretinal hemorrhages and neovascularization were found in the left fundus. Her intraocular pressure in the left eye was sometimes elevated to 22 mm Hg. The patient's brother (case II-3) was reported to have blue irises in both eyes. We believe that these patients have Waardenburg syndrome, that branch retinal vein occlusion in case II-2 may be caused chiefly by systemic hypertension, and that elevated intraocular pressure associated with the blue iris may be partly involved in the pathogenesis of vein occlusion in the left eye.