Identifier |
20110208_nanos_posters_037 |
Title |
Clinical Neuro-Ophthalmic Findings in Familial Dysautonomia |
Creator |
Carlos Mendoza-Santiesteban; Thomas R. Hedges III; Felicia Axerold; Horacio Kaufmann; Floyd Warren |
Affiliation |
(FA) (HK) (FW) Dysautomia Center, Langone Medical Center, New York University, New York, NY; (TH) New England Eye Center, Tufts Medical Center, Tufts University, Boston, MA; (CMS) Cuban Institute of Ophthalmology "Pando Ferrer", Havana Medical University, Havana City, Cuba |
Subject |
Riley-Day Syndrome; Familial Dysautonomia; Optic Neuropathy; Optical Coherence Tomography; Central Scotoma |
Description |
Familial dysautonomia (FD) or Riley Day Syndrome is a recessive hereditary sensory and autonomic neuropathy caused by mutations in the IKBKAP gene. Despite knowing the defective gene, the cause of the observed neuropathy remains unclear. |
Date |
2011-02-08 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2011 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS 2011: 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 2011. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6sf62p6 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
181687 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6sf62p6 |