DOA, Wolfram, Is it All the Same? (PDF)

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Identifier 20200309_nanos_hottopic1_02-pdf
Title DOA, Wolfram, Is it All the Same? (PDF)
Creator Nancy J. Newman, MD
Subject Optic Neuropathy; Optic Atrophy; Inherited; Dominant Optic Atrophy; Wolfram Syndrome
Description Amongst the many causes of optic neuropathies, the inherited optic neuropathies are figuring more commonly in the differential diagnosis of otherwise unexplained optic atrophy, despite there often being no recognized family history. While in the past this diagnosis was often one of exclusion or presumption, modern advances in the detection of genetic abnormalities in both the nuclear and mitochondrial genomes have allowed for a veritable revolution in the genetic diagnosis of inherited causes of optic nerve disease (1-3). Linkage analysis requiring large pedigrees and clinical syndrome recognition, although still often important to alert the astute clinician that a disorder might be genetic and prompt appropriate testing, have largely yielded to strategies that go even beyond targeted gene sequencing to gene panel screening with next generation sequencing (NGS) (1). As accessibility increases, costs decrease, and these tests are becoming more frequently used in routine neuroophthalmologic practice.
Relation is Part of NANOS Annual Meeting 2020: Hot Topics
Contributor Primary Nancy J. Newman, MD
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2020-03
Format application/pdf
Source 2020 North American Neuro-Ophthalmology Society Annual Meeting
Rights Management Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s6q581c4
Setname ehsl_novel_nam
Date Created 2020-05-04
Date Modified 2020-05-18
ID 1546630
Reference URL https://collections.lib.utah.edu/ark:/87278/s6q581c4
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