| Identifier |
20220213_nanos_posters_021 |
| Title |
Isolated Autosomal Recessive Inherited Optic Neuropathy Caused by Candidate Pathogenic Variants in RTN4IP1 |
| Creator |
Neringa Jurkute; Gavin Arno; Andrew Webster; Patrick Yu-Wai-Man |
| Affiliation |
(NJ) (AW) Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland; (GA) Institute of Ophthalmology, UCL, London, United Kingdom of Great Britain and Northern Ireland; (PY) University of Cambridge, Cambridge, United Kingdom of Great Britain and Northern Ireland |
| Subject |
Optic Neuropathy; Genetic Disease |
| Description |
RTN4IP1-associated disease is a mitochondrial disorder caused by biallelic pathogenic RTN4IP1 variants. To date 28 affected individuals from 21 families have been reported. Of those 15/28 (53.6%) had isolated ocular phenotype, with the remaining 13/28 (46.4%) showing a broad spectrum of neurological manifestations. This study further expands the genotype and phenotype in an individual diagnosed with early onset isolated optic atrophy (OA). |
| 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/s668ehn7 |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2062696 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s668ehn7 |
