Mitochondrial Translation Optimizer-1 Mutation as a Cause of Hereditary Optic Neuropathy

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Identifier 20180304_nanos_posters_025
Title Mitochondrial Translation Optimizer-1 Mutation as a Cause of Hereditary Optic Neuropathy
Creator Emily Li, Francine Testa, Valentina Emmanuele, Christiane De Araujo Martins Moreno, Michio Hirano, Robert Lesser
Subject Optic neuropathy, Genetic Disease, Neuro-ophth & systyemic disease ( eg. MS, MG, thyroid), Pediatric Neuro-Ophthalmology, Ocular Motility
Description Mitochondrial translation optimizer-1 (MTO1) mutations are a rare cause of hereditary optic neuropathy, with fewer than ten affected families reported in literature. Of these, only one family was reported to have vision loss. We present a case of hereditary optic neuropathy secondary to a mutation in MTO1.
Date 2018-03
Language eng
Format application/pdf
Source 2018 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 2018: Poster Presentations
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 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s63v3h0d
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Emily Li
Contributor Secondary Francine Testa, Valentina Emmanuele, Christiane De Araujo Martins Moreno, Michio Hirano, Robert Lesser
Setname ehsl_novel_nam
ID 1307505
Reference URL https://collections.lib.utah.edu/ark:/87278/s63v3h0d
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