Neurofibromatosis may present itself to the ophthalmologist as the cause of unilateral congenital glaucoma. It must thus be considered along with the other phakomatoses in the differential diagnosis.
Neurofibromatosis of the eyelid and the orbit is a well-recognized, but rare, manifestation of von Recklinghausen's disease. The signs and symptoms usually appear in early childhood. There are frequently other peripheral changes, such as café au lait spots, and multiple tumors of the peripheral nerves. The disease may be recognized by the presence of a thickened, pendulous upper lid, which may be accompanied by tumor-like masses in the temple, orbit, or side of the face. Proptosis may be present.1
A feature of neurofibromatosis which has received little attention in the ophthalmic literature is the osseous manifestation. In a series of 127 cases of neurofibromatosis Holt and Wright2 found that 37 patients (or over 29%) showed some form of skeletal defect
FRIEDMAN MW, RITCHEY CL. Unilateral Congenital Glaucoma, Neurofibromatosis, and Pseudarthrosis. Arch Ophthalmol. 1963;70(3):294–301. doi:10.1001/archopht.1963.00960050296003
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