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Electrophysiology in the diagnosis of albinism
Author(s) -
HOLDER GE,
NEVEU MM
Publication year - 2014
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2014.2664.x
Subject(s) - albinism , variable expression , medicine , neuroscience , ophthalmology , electrophysiology , neurology , psychology , biology , genetics , gene
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.