Background: Neurofibromatosis 2 (NF2) is a rare autosomal dominant disorder (prevalence 1:37.000) associated with changes in tumor suppressor genes. Intraocular manifestations have been reported as subcapsular cataract, retinal hamartomas, epiretinal membranes, keratopathy in facial palsy, and tumors of the nerves I-V are typical ocular manifestations of NF2.
Patients and materials: We prospectively examined 7 patients who met the diagnostic criteria of NF2 with regard to retinal changes using fluorescence angiography and red-free fundus photography.
Results: In four patients, we found window defects of the pigment epithelium in the macular or paramacular areas. In one patient we observed a combined pigment epithelial and astrocytic hamartoma. A choked papilla was found in two patients.
Conclusions: Presumably, retinal changes in NF2 occur more frequently than has been assumed previously. Our results confirm that in NF2 patients more attention should be paid to abnormalities of the optic disk, the retina and the choroid.