Abstract
PURPOSE: People with albinism (PwA) are known to have visual impairments; however, little is known about whether these functions are disrupted across earlier and later stages of the visual pathway. We investigated distinct perceptual functions and fixation stability within each observer and compared the data with age- (±5 years) and sex-matched controls. METHODS: Twenty-one self-reported PwA and twenty-one controls were recruited. Angular-indication measurement (AIM) and foraging-interactive-D-prime (FInD) psychophysical methods were deployed to measure OS, OD, and OU near visual acuity, spatial contrast sensitivity function (CSF), temporal contrast sensitivity (tCS; 0.5 c/°; horizontal grating: 0, 1, 2, 4, and 8 Hz), OU glare acuity, threshold-versus-contrast (2c/° vertical grating), long, medium, and short wavelength cone-isolated color detection, color discrimination, stereoacuity across spatial frequencies (1c/°, 2c/°, 4c/°, 8c/°), horizontal, circular, radial pattern and motion coherence, and equivalent-noise motion detection. Thresholds were determined by AIM and FInD and compared using N-ANOVAs, t-tests, planned multi-comparisons, correlations, and unsupervised, agglomerative hierarchical cluster analysis for each group. RESULTS: We found significant differences between groups for most visual functions except for simple and complex form-coherence (two way-ANOVAs, P > 0.05) and complex motion coherence. Correlations between outcomes revealed more significant correlations for PwA and differences in the specific correlates between groups. Unsupervised hierarchical clustering revealed different functional clusters between groups. CONCLUSIONS: AIM and FInD successfully interrogated visual deficits in PwA. Overall, PwA showed impaired performance in achromatic, chromatic, temporal, and binocular functions, and had higher intrinsic noise levels. Midlevel vision was comparable between groups. Unsupervised cluster analysis and correlation between outcomes revealed a difference in functional outcome clusters between groups. The results may help to increase the efficiency of screening and identify target deficits for rehabilitation.