Concurrence of Inherited Nuclear and Mitochondrial DNA Optic Neuropathies: Case Discussions and Literature Review

Update Item Information
Identifier 20220213_nanos_posters_022
Title Concurrence of Inherited Nuclear and Mitochondrial DNA Optic Neuropathies: Case Discussions and Literature Review
Creator Neringa Jurkute; Gavin Arno; Andrew Webster; Patrick Yu-Wai-Man
Affiliation (NJ) NIHR Biomedical Research Centre at MoorfieldsEye Hospital and UCL IoO, London, United Kingdom of Great Britain and Northern Ireland; (GA) Moorfields Eye Hospital and UCLIoO, London, United Kingdom of Great Britain and Northern Ireland; (AW) Moorfields Eye Hospital and UCL IoO, London, United Kingdom of Great Britain and Northern Ireland; (PYWM) Moorfields Eye Hospital, UCLIoO, University of Cambridge, Cambridge, United Kingdom of Great Britain and Northern Ireland
Subject Optic Neuropathy; Genetic Disease
Description Hereditary optic neuropathies (HONs) are typically classified by mode of transmission, the most common being dominant optic atrophy (autosomal dominant transmission) and Leber hereditary optic neuropathy (LHON, maternally-inherited mitochondrial DNA transmission). We describe two patients with both nuclear and mitochondrial DNA mutations associated with clinically-distinct HONs.
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: 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 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s66cjy7c
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Setname ehsl_novel_nam
ID 2062697
Reference URL https://collections.lib.utah.edu/ark:/87278/s66cjy7c