Epilessia in amaurosi congenita di Leber e alterazione della via visiva riconoscibile solo con DTI

Translated title of the contribution: Epilepsy in Leber Congenital Amaurosis and visual pathway alteration detectable only with DTI

F. Teutonico, P. Veggiotti, E. Fazzi, C. Uggetti, S. Signorini, S. Bastianello, M. Fasce, U. Balottin

Research output: Contribution to journalArticle

Abstract

Leber Congential Amaurosis (LCA) is the most severe of all the heritable retinal dystrophies. LCA accounts for 10-18% of cases of congenital blindness. It is characterized by a congenital severe visual impairment (blindness or poor vision appearing early in the first year of life, before 6 months of age), specific visual behavioral features and typical electrophysiological findings (ERG, PEV). Transsynaptic Degeneration is the term to describe a degenerative process involving neurons and caused by the loss of synaptic input when fibers afferent to them are damaged. This process has been well documented in the visual pathway in a retrograde fashion (Retrograde Transsynaptic Degeneration). We discuss the clinical, neuroradiological and electrophysiological findings in a patient with LCA and epilepsy likely due to Anterograde Transsynaptic Degeneration (ATD). We suggest that a congenital and severe peripheral visual deficit might cause a functional occipital cortical damage through a mechanism of sensorial deafferentation and Anterograde Transsynaptic Degeneration even in absence of evident morphological alterations.

Translated title of the contributionEpilepsy in Leber Congenital Amaurosis and visual pathway alteration detectable only with DTI
Original languageItalian
Pages (from-to)224-225
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number140
Publication statusPublished - Apr 2010

ASJC Scopus subject areas

  • Clinical Neurology

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