Identifier |
20150222_nanos_posters_031 |
Title |
A Novel OPA1 Mutation in Autosomal Dominant Optic Atrophy |
Creator |
Jordan A. Margo; Jana A. Bregman; Vivian Rismondo |
Affiliation |
(JAM) University of Maryland, Baltimore, MD; (JAB) Vanderbilt University School of Medicine, Nashville, TN; (VR) Greater Baltimore Medical Center, Towson, MD |
Subject |
Genetic Disease; Optic Neuropathy |
Description |
Autosomal dominant optic atrophy (ADOA), or Kjer's disease, often overlaps clinically with other forms of optic atrophy making diagnosis challenging. Considering the potential for ADOA to cause significant visual impairment and its high degree of penetrance, it is important to make the correct diagnosis for both the individual patient and the family members. |
Date |
2015-02-22 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2015 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS 2015: Poster Presentations |
Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6mh0w92 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
184467 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6mh0w92 |