Genotype-Phenotype Correlations in Autosomal Dominant Optic Atrophy

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Identifier 20220215_nanos_sciplatform3_05
Title Genotype-Phenotype Correlations in Autosomal Dominant Optic Atrophy
Creator Joshua Harvey, MA, BM, BCh, FRCOphth
Subject Genetic Disease; Neuro-ophth & Systemic Disease (eg. MS, MG, Thyroid); Optic Neuropathy
Description Autosomal dominant optic atrophy (DOA) is the commonest inherited optic neuropathy, yet there is limited natural history data on disease progression. This presents a major challenge with regards to counselling patients on visual prognosis and establishing outcome measures for therapeutic studies. This study sought to establish the natural history of DOA in a large patient cohort with a confirmed molecular diagnosis.
Date 2022-02
Language eng
Format application/pdf
Type Text
Source 2022 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2022: Scientific Platform III
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 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s659t1vt
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Joshua Harvey, MA, BM, BCh, FRCOphth
Setname ehsl_novel_nam
ID 2194517
Reference URL https://collections.lib.utah.edu/ark:/87278/s659t1vt
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