Residual visual responses in patients with retinitis pigmentosa revealed by functional magnetic resonance imaging

Purpose: We evaluated the potential of magnetic resonance imaging in identifying signs of cortical visual processing with greater sensitivity than standard ophthalmological measures in patients with retinitis pigmentosa (RP) at advanced stages. Methods: Eight patients affected with RP with only bare light perception and weak or absent visual evoked potential (VEP) or electroretinogram (ERG) responses to flashes of light were tested. Visual impairment was evaluated by means of psychophysical testing, where patients were asked to discriminate the drifting direction of a contrast modulated grating. Patients underwent magnetic resonance imaging scanning, and the behavioral performance was correlated with both blood oxygenation level-dependent (BOLD) signal elicited by flashes of lights and cortical thickness measured in primary visual area. Results: Contrast sensitivity to drifting gratings of very low spatial and temporal frequency was greatly impaired, yet measurable in all patients. Weak luminance flashes elicited significant BOLD responses in the striate and extrastriate cortex, despite that the stimuli were not perceived during scanning. Importantly, patients with less severe impairment of contrast sensitivity showed stronger V1 BOLD responses. Striate cortical thickness did not correlate with visual sensitivity. Conclusions: BOLD responses provide a sensitive and reliable index of visual sparing more than VEPs or ERGs, which are often absent in RP patients. The minimal residual vision can be assessed by optimal visual stimulation in two alternative forced choice discrimination tasks and by BOLD responses. Imaging techniques provide useful information to monitor progressive vision loss. Translational Relevance: Functional magnetic resonance imaging might be a practical tool for assessing visual sparing, as it is more feasible and sensitive than psychophysical or ophthalmological testing.