Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

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State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_CF63EDD38D43
Type
Article: article from journal or magazin.
Collection
Publications
Title
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Journal
Frontiers in neurology
Author(s)
Borruat F.X., Holder G.E., Bremner F.
ISSN
1664-2295 (Print)
ISSN-L
1664-2295
Publication state
Published
Issued date
2017
Peer-reviewed
Oui
Volume
8
Pages
523
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is associated with structural retinal abnormalities either directly visible on funduscopy or revealed by optical coherence tomography (OCT). Most patients with ARSACS have a whitish peripapillary appearance corresponding to a thickening of the peripapillary retinal nerve fiber layer. OCT has also shown an absence of the physiological foveal depression. Abnormal electroretinography (ERG) has previously been reported in only two cases, without further details. This report describes a patient with ARSACS in whom careful full-field ERG revealed dysfunction of the retinal On- bipolar cells with sparing of photoreceptor function. This is the first report of inner retinal dysfunction in ARSACS.

Keywords
Charlevoix-Saguenay, On− bipolar cells, autosomal recessive spastic ataxia of Charlevoix-Saguenay, electronegative electroretinography, erg, foveal hypoplasia, optical coherence tomography, peripapillary retinal nerve fiber layer thickening
Pubmed
Web of science
Open Access
Yes
Create date
09/11/2017 18:57
Last modification date
20/08/2019 15:49
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