Neuro-ophthalmological findings in neurofibromatosis: Clinical and neuroradiological study of 125 patients

摘要: As a part of continued clinical and genetic study neurofibromatosis (NF) in Northern Finland (population about 650,000), neuro-ophthalmological examination was performed on 106 out 125 patients with definite diagnosis (according to the NIH criteria) NF 1 (116), 2 (4), 5 (5). Thirteen additional had an ophthalmological examination. On slit lamp, Lisch nodules were found 59 (96.7%) 61 adults 32 (71.1%) 45 children 1, one (20%) five 5, none four 2. Computed tomography (CT) and/or magnetic resonance imaging (MRI) 102 patients. CT normal 41 97 cases. All 27 MRI scans showed some abnormalities. Glioma optic nerve chiasm diagnosed or suspected 23 96 cases (24%) caused reduced visual acuity field defects unilaterally three bilaterally eight. Operative radiation ther...