Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Electroretinographic responses in Lafora disease

A D Korczyn, N Ben-Tovim

    Electroencephalography and Clinical Neurophysiology
    |December 1, 1978
    PubMed
    Summary

    Electroretinograms in Lafora disease patients showed similarities to night blindness. Unlike essential hemeralopia, the b-wave gradually recovered in Lafora disease patients after dark adaptation, suggesting diagnostic potential.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Pseudo-anticipation in Creutzfeldt-Jakob disease is due to a rhomboid-shaped artifact.

    European journal of neurology·2019
    Same author

    Clinical and radiological determinants of transient symptoms associated with infarction (TSI).

    Journal of the neurological sciences·2018
    Same author

    High hair cortisol concentrations predict worse cognitive outcome after stroke: Results from the TABASCO prospective cohort study.

    Psychoneuroendocrinology·2017
    Same author

    Gait instability in valproate-treated patients: Call to measure ammonia levels.

    Acta neurologica Scandinavica·2017
    Same author

    Quality-of-life perception by Parkinson's disease patients and caregivers.

    Acta neurologica Scandinavica·2017
    Same author

    The effect of schooling on reported age of onset of cognitive decline: A collaborative study.

    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia·2016

    Area of Science:

    • Ophthalmology
    • Neurology
    • Genetics

    Background:

    • Lafora disease is a rare, fatal, autosomal recessive neurodegenerative disorder.
    • It is characterized by progressive myoclonus epilepsy and neuronal storage of abnormal glycogen.

    Observation:

    • Specific electroretinogram (ERG) findings were observed in three patients with Lafora disease.
    • These ERGs closely resembled those seen in the Schubert-Bronschein type of congenital stationary night blindness.

    Findings:

    • In contrast to essential hemeralopia (night blindness) where the b-wave is absent, Lafora disease patients exhibited a gradual recovery of the b-wave.
    • This recovery was observed within approximately 15 minutes of dark adaptation.

    Implications:

    • ERG examinations may hold diagnostic significance for identifying Lafora disease in patients presenting with myoclonic epilepsy.
    • These findings highlight the utility of ERG in differentiating Lafora disease from other conditions with similar neurological symptoms.

    Related Experiment Videos