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 contribution||Epilepsy in Leber Congenital Amaurosis and visual pathway alteration detectable only with DTI|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2010|
ASJC Scopus subject areas
- Clinical Neurology