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 |
Affiliation |
(RHB) Goldschleger Eye Institute, Sheba Medical Center and Sackler Faculty of Medicine Tel Aviv University, Ramat-Gan, Israel; (GY) (SHB) Movements Disorder Institute, Sheba Medical Center and Sackler Faculty of Medicine Tel Aviv University, Ramat-Gan, Israel; (YA) Metabolic Disease Unit, Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine Tel Aviv University, Ramat-Gan, Israel; (BBZ) Pediatric Neurology Unit, Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine Tel Aviv University Ramat-Gan, Israel |
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 |
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/ |
Setname |
ehsl_novel_nam |
ID |
185231 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6x09dxc |