Document Detail


Detection of optic pathway misrouting in the human albino neonate.
MedLine Citation:
PMID:  1775217     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The diagnosis of albinism is indicated by the presence of visual pathway misrouting in which temporal retinal fibers erroneously decussate at the optic chiasm disrupting the normal topographical distribution of retinal geniculate-cortical projections. Detection of misrouted fibers is effected by non-invasive electrophysiological assessment of the topographical representation of the visual evoked potential (VEP) following full field monocular stimulation. By combining appropriate state defined neonatal recording procedures with the albino VEP test paradigm, the presence of aberrant optic pathway projections was detected in a five-day-old full-term infant. The electrophysiological signature pathognomonic to albinism was observed within a long (300 ms) latency window of an otherwise normal neonatal luminance flash response. The results of this study indicate that the VEP misrouting test can be extended to reliable albino diagnosis within the neonatal period.
Authors:
P Apkarian; P G Eckhardt; M J van Schooneveld
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuropediatrics     Volume:  22     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  1991 Nov 
Date Detail:
Created Date:  1992-03-04     Completed Date:  1992-03-04     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  211-5     Citation Subset:  IM    
Affiliation:
The Netherlands Ophthalmic Research Institute, Amsterdam.
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MeSH Terms
Descriptor/Qualifier:
Albinism / diagnosis*,  physiopathology
Evoked Potentials, Visual*
Female
Functional Laterality
Humans
Infant, Newborn
Male
Visual Pathways / physiopathology*

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