Identifier |
20150224_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 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2015 North American Neuro-Ophthalmology Society Annual Meeting |
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 |
ARK |
ark:/87278/s65m9cjd |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
184811 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s65m9cjd |