Article
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Journal of neurology - 1 Jul 2022
Orsini Alessandro, Ferrari Daniele, Riva Antonella, Santangelo Andrea, Macrì Angelo, Freri Elena, Canafoglia Laura, D'Aniello Alfredo, Di Gennaro Giancarlo, Massimetti Gabriele, Minetti Carlo, Zara Federico, Michelucci Roberto, Tumber Anupreet, Vincent Ajoy, Minassian Berge Arakel, Striano Pasquale
Abstract excerpt
BACKGROUND: Lafora disease (LD) is a neurodegenerative disorder featuring action and stimulus-sensitive myoclonus, epilepsy, and cognitive deterioration. Mutations in the EPM2A/EPM2B genes classically prove causative for the disease in most cases. Since full-field electroretinogram (ffERG) may reveal early-stage changes in a wide spectrum of diseases, we aimed to evaluate retinal cones and rods dysfunction in a...
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