A Novel OPA1 Mutation in Autosomal Dominant Optic Atrophy

Update Item Information
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: 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 2015. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s65m9cjd
Setname ehsl_novel_nam
ID 184811
Reference URL https://collections.lib.utah.edu/ark:/87278/s65m9cjd
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