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• W3111469651 abstract "Purpose Blue cone monochromacy (BCM), a congenital X-linked retinal disease caused by mutations in the OPN1LW/OPN1MW gene cluster, is under consideration for intravitreal gene therapy. Difficulties with near vision tasks experienced by these patients prompted this study of reading performance as a potential outcome measure for a future clinical trial. Methods Clinically and molecularly diagnosed patients with BCM (n = 17; ages 15-63 years) and subjects with normal vision (n = 22; ages 18-72 years) were examined with the MNREAD acuity chart for both uniocular and binocular conditions. Parameters derived from the measurements in patients were compared with normal data and also within the group of patients. Intersession, interocular and between-subject variabilities were determined. The frequent complaint of light sensitivity in BCM was examined by comparing results from black text on a white background (regular polarity) versus white on black (reverse polarity) conditions. Results MNREAD curves of print size versus reading speed were right-shifted compared with normal in all patients with BCM. All parameters in patients with BCM indicated abnormal reading performance. Intersession variability was slightly higher in BCM than in normal, but comparable with results previously reported for other patients with maculopathies. There was a high degree of disease symmetry in reading performance in this BCM cohort. Reverse polarity showed better reading parameters than regular polarity in 82% of the patients. Conclusions MNREAD measures of reading performance in patients with BCM would be a worthy and robust secondary outcome in a clinical trial protocol, given its dual purpose of quantifying macular vision and addressing an important quality of life issue. Translational Relevance Assessment of an outcome for a clinical trial." @default.
• W3111469651 created "2020-12-21" @default.
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• W3111469651 date "2020-12-08" @default.
• W3111469651 modified "2023-09-27" @default.
• W3111469651 title "Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial" @default.
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• W3111469651 doi "https://doi.org/10.1167/tvst.9.13.13" @default.
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