Neuro-Ophthalmic Manifestations of Costeff Syndrome (.pdf)

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Identifier 20160301_nanos_posters_142
Title Neuro-Ophthalmic Manifestations of Costeff Syndrome (.pdf)
Creator Ruth Huna-Baron, Gilad Yahalom, Yair Anikster, Bruria Ben-Zeev, Sharon Hassin-Baer
Subject Optic Neuropathy, Genetic Disease
Description Type III 3-methylglutaconic aciduria (OPA III) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy caused by mutation c.143-1G>C variant. Since Costeff described phenotype of 19 patients in 1989 several reports described approximately 40 patients, but most of them lack details about neuro-ophthalmic phenotype. Our aim was to characterize the clinical course of the neuro-ophthalmic manifestations of this syndrome.
Date 2016-03-01
Language eng
Format application/pdf
Format Creation application.pdf
Type Text
Source 2016 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2016: Poster Presentations
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2016. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6x09dxc
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Ruth Huna-Baron
Contributor Secondary Gilad Yahalom, Yair Anikster, Bruria Ben-Zeev, Sharon Hassin-Baer
Setname ehsl_novel_nam
ID 185231
Reference URL https://collections.lib.utah.edu/ark:/87278/s6x09dxc
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