Electrophysiology in the diagnosis of albinism

Autor: Ge Holder, MM Neveu
Rok vydání: 2014
Předmět:
Zdroj: Acta Ophthalmologica. 92
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.2014.2664.x
Popis: Albinism is a genetically determined disorder of melanin synthesis associated with intracranial visual pathway misrouting, with the majority of fibres from each eye usually decussating to the contralateral cerebral hemisphere. The presentation will detail the use of flash and pattern appearance VEPs in the demonstration of this albino misrouting. It will be demonstrated that the misrouting has a highly variable expression, including uni-ocular misrouting, and is a spectrum of disease rather than an all-or-none phenomenon.
Databáze: OpenAIRE