Electrophysiology in the diagnosis of albinism

Electrophysiology in the diagnosis of albinism

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...

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Bibliographic Details
Published in:Acta ophthalmologica (Oxford, England) Vol. 92; no. s253
Main Authors: HOLDER, GE, NEVEU, MM
Format: Journal Article
Language:English
Published: Oxford, UK Blackwell Publishing Ltd 01-09-2014
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Subjects:
Albinism
Ophthalmology
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Description
Summary: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.
ISSN:1755-375X
1755-3768
DOI:10.1111/j.1755-3768.2014.2664.x