NEUROOPHTHALMOLOGICAL FINDINGS IN NEUROFIBROMATOSIS - CLINICAL AND NEURORADIOLOGICAL STUDY OF 125 PATIENTS

As a part of a continued clinical and genetic study of neurofibromatos is (NF) in Northern Finland (population about 650,000), a neuroophthal mological examination was performed on 106 out of 125 patients with a definite diagnosis (according to the NIH criteria) of NF I (116), NF 2 (4), and NF 5 (5) Thirteen additional patients had an ophthalmologica l examination. On examination with a slit lamp, Lisch nodules were fou nd in 59 (96.7%) of the 61 adults and in 32 (71.1%) of the 45 children with NF I, in one (20%) of the five patients with NF 5, and in none o f the four patients with NF 2. Computed tomography (CT) and/or magneti c resonance imaging (MRT) were performed on 102 patients. CT was norma l in 41 out of 97 cases. All 27 MRI scans showed some abnormalities. G lioma of the optic nerve and/or chiasm were diagnosed or suspected in 23 of the 96 cases with NF I (24%) and caused reduced visual acuity an d 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 p rogression. Epiretinal membrane was found in two and presenile catarac t in one of the four patients with NF 2, and three had neuro-ophthalmo logical findings caused by bilateral acoustic neurinomas or their oper ations.