Identifier |
20220213_nanos_posters_244 |
Title |
Biallelic Variants in Respiratory Chain Complex-I Genes Lead to Isolated or Syndromic Inherited Optic Neuropathy |
Creator |
Gavin Arno; Savita Nutan; Thomas Cullup; Lyn Chitty; Andrew Webster; Omar Mahroo; Patrick Yu-Wai-Man; Neringa Jurkute |
Affiliation |
(GA) (AW) (OM) UCL Institute of Ophthalmology, London, United Kingdom of Great Britain and Northern Ireland; (SN) (TC) (LC) North Thames Genomic Laboratory Hub, Great Ormond Street hospital, London, United Kingdom of Great Britain and Northern Ireland; (PY) Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom of Great Britain and Northern Ireland; (NJ) Moorfields Eye Hospital, London, United Kingdom of Great Britain and Northern Ireland |
Subject |
Genetic Disease; Optic Neuropathy |
Description |
The mitochondrial complex I (CI) is the major entry point for electrons to the respiratory chain, essential in energy metabolism.Mutations in both mitochondrial or nuclear genes lead to CI deficiency, a phenotypically heterogeneous mitochondrial disease. Particularly, mutations of nuclear genes encoding CI subunits or assembly factors are implicated. Most patients with nuclear determined CI deficiency show more severe mitochondrial disorder with or without visual loss. To date, there are limited reports of isolated optic atrophy (OA) due to pathogenic variants in nuclear genes important for CI function. |
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/s6h5p0m8 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
2065062 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6h5p0m8 |