Article Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial Evelyn P. Semenov1, Rebecca Sheplock1, Alejandro J. Roman1, David B. McGuigan1, Malgorzata Swider1, Artur V. Cideciyan1, and Samuel G. Jacobson1 1 Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, USA Correspondence: Samuel G. Purpose: Blue cone monochromacy (BCM), a congenital X-linked retinal disease caused Jacobson, Scheie Eye Institute, by mutations in the OPN1LW/OPN1MW gene cluster, is under consideration for intrav- University of Pennsylvania, 51 N. itreal gene therapy. Difficulties with near vision tasks experienced by these patients 39th Street, Philadelphia, PA 19104, prompted this study of reading performance as a potential outcome measure for a future USA. e-mail: clinical trial.
[email protected] Methods: Clinically and molecularly diagnosed patients with BCM (n = 17; ages Received: July 20, 2020 15–63 years) and subjects with normal vision (n = 22; ages 18–72 years) were examined Accepted: October 12, 2020 with the MNREAD acuity chart for both uniocular and binocular conditions. Parameters Published: December 8, 2020 derived from the measurements in patients were compared with normal data and also Keywords: clinical trial; cone; gene within the group of patients. Intersession, interocular and between-subject variabilities mutations; outcome measure; were determined. The frequent complaint of light sensitivity in BCM was examined by reading; visual acuity comparing results from black text on a white background (regular polarity) versus white on black (reverse polarity) conditions. Citation: Semenov EP, Sheplock R, Roman AJ, McGuigan DB, Swider M, Results: MNREAD curves of print size versus reading speed were right-shifted compared Cideciyan AV, Jacobson SG.