Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome

ConclusionsThis study demonstrates the feasibility of using ERG and CS for assessing visual deficits in FXS and establishes the translational validity of theFmr1−/y mice phenotype to individuals with FXS. By including electrophysiological and functional readouts, the results of this study suggest the utility of both ERG and CS (ERG-CS) as complementary translational biomarkers for characterizing sensory abnormalities found in FXS, with potential applications to the clinical development of novel therapeutics that target sensory function abnormalities to treat core symptomatology in FXS.Trial registrationID-RCB number 2019-A01015-52 registered on the 17 May 2019.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research