Ocular Manifestations in Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 is a genetically determined multisystemic disease that affects up to 1:2500--3500 people throughout the world. Several organs and systems can be affected by the disorder, including the eye and orbit. Some ocular manifestations, such as Lisch nodules in the iris, choroidal nodules, or retinal vascular abnormalities are completely innocuous and require no treatment. Other manifestations such as optic nerve gliomas and plexiform neurofibromas can carry significant morbidity, including vision loss and facial disfigurement. Therefore, the role of the ophthalmologist in managing patients with ophthalmic manifestations of NF1 is significant and varied.