title: Ocular fundus in neurofibromatosis type 2.
abstract: Several ocular findings have been associated with neurofibromatosis type 2 (NF 2) since the identification of this disease as a distinct clinical entity. Juvenile cataracts were reported first, followed by combined pigment epithelial and retinal hamartomas. In a recent report, epiretinal membranes were described in seven of nine patients. Moreover, an association between NF 2 and optic disc gliomas has been suggested based on earlier published reports. Six patients with a confirmed diagnosis of NF 2 were examined. Four patients (six of 12 eyes) had epiretinal membranes and one had an optic disc glioma. In addition, one case of an optic disc glioma in a patient with NF 2 was tracked. It is concluded that epiretinal membranes are frequent in NF 2, and that optic disc glioma is a rare but specific sign of NF 2. Patients at risk for development of this disease should undergo careful examination of the ocular fundus.
authors.affiliation: Department of Ophthalmology, University Hospital of Zurich, Switzerland.
authors.forename: K
authors.initials: K
authors.lastname: Landau
authors.forename: G M
authors.initials: GM
authors.lastname: Yaşargil
mesh_terms: D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D009898:Optic Disk / Q000473:pathology / Q000503:physiopathology; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000209:etiology* / Q000473:pathology; D014792:Visual Acuity