Bilateral vasoproliferative retinal tumors in a patient with autosomal dominant aniridia.

Abstract

To document retinal vasoproliferative tumors in a patient with aniridia. A 32-year-old woman with known autosomal dominant aniridia and lifelong visual acuity of approximately 20/80 noted further visual acuity loss. Examination revealed horizontal nystagmus and visual acuity of 20/100 in both eyes. Both eyes displayed a narrow rim of rudimentary iris with visualization of the entire lens and zonule. The cornea was clear and minimal posterior subcapsular cataract was noted. Both eyes showed diffuse retinal pigment epithelial alterations. The fovea was flat and without depression on optical coherence tomography. Inferiorly in both eyes was exudative retinal detachment from ill-defined vascular retinal tumors of approximately 15 mm diameter and 3.5 mm thickness. Both eyes were treated with plaque radiotherapy. Although aniridia typically affects the anterior segment of the eye, vision-threatening retinal detachment from vasoproliferative tumor can occur.