Identifier |
20200308_nanos_posters_047 |
Title |
A New Homoplasmic mtDNA Mutation Described in Mother and Son with Clinical LHON |
Creator |
Rasmus Eurホn; Frank Trハisk; Helene Bruhn; Rolf Wibom; Martin Engvall; Anna Wedell; Nicole Lesko; Anna Wredenberg; Valerio Carelli; Aki Kawasaki |
Affiliation |
(RE) (FT) St Eriks Eye hospital, Stockholm, Sweden; (HB) (RW) (ME) (AW) (NL) (AW) Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; (VC) Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna, Bologna, Italy; (AK) Department of Ophthalmology, Hルpital Ophtalmique Jules Gonin, University of Lausanne, Lausanne, Switzerland |
Subject |
Optic Neuropathy; Genetic Disease |
Description |
A 48 year old woman presented with acute painless sequential visual loss that progressed over two months. The patient had no previous ophthalmologic history. She was a chronic smoker with intermittent alcohol abuse and an amphetamine addiction 15 years prior. |
Date |
2020-03 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2020 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights |
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 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6n355nx |
Setname |
ehsl_novel_nam |
ID |
1539277 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6n355nx |