Ocular Manifestations of Congenital/Inherited Diseases

This 22-year-old woman has neurofibromatosis, type 2. Acuity, color plates, pupillary responses, slit-lamp examination, IOP, fields, and funduscopy are all normal. There is a 3 mm proptosis OS. The patient has recently undergone gamma knife for the acoustic tumor, and she has residual facial nerve palsy. General examination reveals hoarse voice, >10 subcutaneous neurofibromas, two cafe-au-lait spots, scoliosis, and many tiny red macules/papules of undetermined origin. The family history was negative. The MRI findings were bilateral acoustic neuromas; bilateral III and V neuromas; two lumbar parasagittal meningiomas; glioma from C3-C6; meningioma from T2-3; and multiple lumbar intradural neuromas. Anatomy: Optic nerve. Pathology: Neurofibromatosis, Type 2. Neurofibromatosis, Type2; Left optic nerve tumor