Between February 2014 and June 2015, we evaluated nine patients with NF2. Patients were clinically examined in a neurofibromatosis outpatient reference center of the Federal University of Minas Gerais, Belo Horizonte, Brazil. The NF2 diagnosis was confirmed by neuroimaging. None of the nine NF2 patients were parentally related. Nine age- and sex-matching controls with no history of neurologic or ophthalmologic disorders were included.
Eye examination was performed in 18 NF2 eyes, and it included measurement of the visual acuity and biomicroscopy before and after pupillary dilatation, with special attention to the presence of iris hamartomas and lens opacities, dilated fundus examination, color fundus photography, infrared photography, fundus autofluorescence, and SD-OCT. SD-OCT was accomplished in 17 NF2 eyes; in one eye, OCT scans were not performed, due to a dense subcapsular lens opacity. Optical coherence tomography examinations were performed by means of Spectralis HRA + OCT (Heidelberg Eye Explorer Version 1.9.10.0 – Acquisition Software Version: 6.0.11.0; Heidelberg Engineering, Heidelberg, Germany). Acquisition protocols included at least one cross-hair scan, a 20° × 15° 19 B-scans macular cube, a 20° × 15° 19 B-scans macular cube with enhanced-depth imaging (EDI) and mode with additional horizontal and vertical single lines or cube, to cover any lesion detected by clinical examination or fundus photography.
The study was approved by the ethics committee of the Clinical Hospital of the Federal University of Minas Gerais and followed the principles of the Declaration of Helsinki.