Abstract
As a part of a continued clinical and genetic study of neurofibromatosis (NF) in Northern Finland (population about 650,000), a neuro-ophthalmological examination was performed on 106 out of 125 patients with a definite diagnosis (according to the NIH criteria) of NF 1 (116), NF 2 (4), and NF 5 (5). Thirteen additional patients had an ophthalmological examination. On examination with a slit lamp, Lisch nodules were found in 59 (96.7%) of the 61 adults and in 32 (71.1%) of the 45 children with NF 1, in one (20%) of the five patients with NF 5, and in none of the four patients with NF 2. Computed tomography (CT) and/or magnetic resonance imaging (MRI) were performed on 102 patients. CT was normal in 41 out of 97 cases. All 27 MRI scans showed some abnormalities. Glioma of the optic nerve and/or chiasm were diagnosed or suspected in 23 of the 96 cases with NF 1 (24%) and caused reduced visual acuity and visual field defects unilaterally in three cases and bilaterally in eight. Operative and/or radiation therapy was given to three children. Follow-up without therapy in the case of 17 patients did not reveal progression. Epiretinal membrane was found in two and presenile cataract in one of the four patients with NF 2, and three had neuro-ophthalmological findings caused by bilateral acoustic neurinomas or their operations.