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.
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