PURPOSE: To report the ophthalmic manifestations of neurofibromatosis in Korea. METHODS: Ophthalmologic examinations were performed from November 2001 to January 2008 for 153 consecutive patients who were diagnosed with neurofibromatosis according to the diagnostic criteria for neurofibromatosis. A retrospective analysis was performed according to the medical records of these 153 patients. RESULTS: Seventy seven out of the 153 patients were men, 76 were women and the mean age was 20.44 +/- 14.34 years old. One hundred twelve were neurofibromatosis type 1 and six were neurofibromatosis type 2. Remained thirty five were segmental neurofibromatosis type 1. Ophthalmic manifestations of the neurofibromatosis type 1 were Lisch nodule (52.68%), high myopia (14.29%), plexiform neurofibroma in the orbit (4.46%), cafe au lait spots (4.46%) and optic glioma (3.58%). In the neurofibromatosis type 2, epiretinal membrane (33.33%) showed highest incidence and posterior subcapsular opacity (16.67%), Lisch nodule (16.67%), optic disc edema (16.67%), and optic nerve glioma (16.67%) were also noted. Lisch nodule (25.71%) was the most common ophthalmic finding in segmental neurofibromatosis type 1. CONCLUSIONS: Lisch nodule, which was the most common manifestation of the neurofibromatosis type 1, was less manifested in our cases compared to the previous reports of western countries. In the neurofibromatosis type 2, epiretinal membrane and posterior subcapsular cataract showed higher incidence than those of other types of neurofibromatosis.
Cafe-au-Lait Spots ; Cataract ; Edema ; Epiretinal Membrane ; Female ; Humans ; Incidence ; Korea ; Male ; Medical Records ; Myopia ; Neurofibroma, Plexiform ; Neurofibromatoses ; Neurofibromatosis 1 ; Neurofibromatosis 2 ; Optic Nerve Glioma ; Orbit ; Retrospective Studies