TY - JOUR
T1 - Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage
AU - Orsini, Alessandro
AU - Ferrari, Daniele
AU - Riva, Antonella
AU - Santangelo, Andrea
AU - Macrì, Angelo
AU - Freri, Elena
AU - Canafoglia, Laura
AU - D’Aniello, Alfredo
AU - Di Gennaro, Giancarlo
AU - Massimetti, Gabriele
AU - Minetti, Carlo
AU - Zara, Federico
AU - Michelucci, Roberto
AU - Tumber, Anupreet
AU - Vincent, Ajoy
AU - Minassian, Berge Arakel
AU - Striano, Pasquale
N1 - Funding Information:
This work was developed within the framework of the DINOGMI Department of Excellence of MIUR 2018-2022 (legge 232 del 2016).
Publisher Copyright:
© 2022, The Author(s).
PY - 2022/7
Y1 - 2022/7
N2 - 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 cohort of Italian LD patients. Methods: Patients with genetically confirmed LD were recruited and subjected to ffERG analysis following the International Society for Clinical Electrophysiology of Vision (ISCEV) protocol. Results: Six patients aged between 13 and 26 years (mean 19.5 years) were included. The mean age at disease onset was 12.5 years with a mean disease duration of 7 years. The ffERG analysis revealed a global mild to severe generalized cones dysfunction in all patients. Linear correlation was identified between disease stage and the degree of cones and rods dysfunction, as well as between the type of mutation and the cones and rods dysfunction. Conclusions: This study brings further evidence of early retinal alterations in LD patients. The cones and rods dysfunction grade is related to disease duration. The ffERG is an important tool to determine the disease stage, allowing to evaluate either natural or treatment-related disease progression in a minimally invasive way.
AB - 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 cohort of Italian LD patients. Methods: Patients with genetically confirmed LD were recruited and subjected to ffERG analysis following the International Society for Clinical Electrophysiology of Vision (ISCEV) protocol. Results: Six patients aged between 13 and 26 years (mean 19.5 years) were included. The mean age at disease onset was 12.5 years with a mean disease duration of 7 years. The ffERG analysis revealed a global mild to severe generalized cones dysfunction in all patients. Linear correlation was identified between disease stage and the degree of cones and rods dysfunction, as well as between the type of mutation and the cones and rods dysfunction. Conclusions: This study brings further evidence of early retinal alterations in LD patients. The cones and rods dysfunction grade is related to disease duration. The ffERG is an important tool to determine the disease stage, allowing to evaluate either natural or treatment-related disease progression in a minimally invasive way.
KW - FFERG
KW - Lafora disease
KW - Neurodegeneration
KW - Progressive myoclonus
KW - Retinal alterations
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U2 - 10.1007/s00415-022-10974-7
DO - 10.1007/s00415-022-10974-7
M3 - Article
C2 - 35184210
AN - SCOPUS:85124893924
SN - 0340-5354
VL - 269
SP - 3597
EP - 3604
JO - Journal of neurology
JF - Journal of neurology
IS - 7
ER -