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Purpose  To validate a vision-guided mobility assessment for individuals affected by  RPE65 -associated retinal dystrophy ( RPE65 -RD).    Methods  In this comparative cross-sectional study, 29 subjects, comprising 19 subjects with  RPE65 -RD and 10 normally-sighted subjects undertook three assessments of mobility: following a straight line, navigating a simple maze, and stepping over a sidewalk “kerb.” Performance was quantified as the time taken to complete each assessment, number of errors made, walking speed, and percent preferred walking speed, for each assessment. Subjects also undertook assessments of visual acuity, contrast sensitivity, full-field static perimetry, and age-appropriate quality of life questionnaires. To identify the most relevant metric to quantify vision-guided mobility, we investigated repeatability, as well as convergent, discriminant, and criterion validity. We also measured the effect of illumination on mobility.    Results  Walking speed through the maze assessment best discriminated between  RPE65 -RD and normally-sighted subjects, with both convergent and discriminant validity. Walking speed also approached statistical significance when assessed for criterion validity ( P  = 0.052). Subjects with  RPE65 -RD had quantifiably poorer mobility at lower illumination levels. A relatively small mean difference (−0.09 m/s) was identified in comparison to a relatively large repeatability coefficient (1.10 m/s).    Conclusions  We describe a novel, quantifiable, repeatable, and valid assessment of mobility designed specifically for subjects with  RPE65 -RD. The assessment is sensitive to the visual impairment of individuals with  RPE65 -RD in low illumination, identifies the known phenotypic heterogeneity and will furthermore provide an important outcome measure for  RPE65 -RD.    Translational Relevance  This assessment of vision-guided mobility, validated in a dedicated cohort of subjects with  RPE65 -RD, is a relevant and quantifiable outcome measure for  RPE65 -RD.

Validation of a Vision-Guided Mobility Assessment for RPE65-Associated Retinal Dystrophy