| Identifier |
20220213_nanos_posters_247 |
| Title |
Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations |
| Creator |
Heather McDonald; Bekim Sadikovic; Claire Sheldon; Lulu L. C. D. Bursztyn |
| Affiliation |
(HM) (BS) (LLCDB) University of Western Ontario, London, Canada; (CS) University of British Columbia, Vancouver, Canada |
| Subject |
Optic Neuropathy; Genetic Disease |
| Description |
Leber hereditary optic neuropathy (LHON) is a relatively rare, but highly debilitating and bilaterally blinding disease.1,2 There are three primary point mutations associated with LHON: m.3460G>A, m.11778G>A, m.14484T>C, found on the mitochondrially encoded genes of NADH-ubiquinone oxidoreductase core subunits (MT-ND). There is a growing body of mtDNA polymorphisms documented in LHON patients.3 The purpose of this study is to provide an overview of LHON mutations found in Southwestern Ontario, and to describe their clinical characteristics. |
| 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: Poster Session I: Disorders of the Anterior Visual Pathway (Retina, Optic Nerve, and Chiasm) |
| 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/s6wf4gpd |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2065065 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6wf4gpd |
