Proliferative retinopathy as a complication of dyskeratosis congenita.

Abstract

To describe a patient with dyskeratosis congenita (DC) who developed retinal neovascularization (RNV) and discuss this novel association. A 10-year-old boy with DC was referred for evaluation of possible retinal vascular disease. He underwent ophthalmologic examination, as well as fluorescein angiography. Fluorescein angiography demonstrated proliferative retinopathy with capillary nonperfusion in the temporal retina of both eyes. The patient underwent further evaluation with an examination with anesthesia and indirect ophthalmoscopic laser photocoagulation to areas of capillary nonperfusion. Although various ocular complications of both acquired aplastic anemia and inherited aplastic anemia due to DC have been previously described, to the authors' knowledge, this is the first reported case of either disease to exhibit RNV consistent with proliferative retinopathy. Ophthalmologists need to be aware of this potential complication in DC that could threaten vision, to provide prompt laser photocoagulation therapy.