Identifier |
20210222_nanos_sciplatform1_06-video |
Title |
Pathogenic NR2F1 Variants Cause a Systemic Neurodevelopmental Ocular Phenotype Recapitulated in a Mutant Mouse Model |
Creator |
Neringa Jurkute, Michele Bertacchi, Gavin Arno, Chiara Tocco, Ungsoo Kim, Adam Kruszewski, Robert Avery, Emma Bedoukian, Jinu Han, Sung Ahn, James Acheson, Indran Davagnanam, Richard Bowman, Marios Kaliakatsos, Ashwin Reddy, Ngozi Oluonye, Patrizia Amati-Bonneau, Majida Charif, Guy Lenaers, Isabelle Meunier, Sabine Defoort, Catherine Vincent-Delorme, Anthony Robson, Graham Holder, Luc Jean, Antonio Martinez-Monseny, Grant Liu, Andrew Webster, Michèle Studer, Patrick Yu- Wai |
Subject |
Genetic Disease; Optic Neuropathy; Pediatric Neuro-Ophthalmology; Retina |
Description |
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder - Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS). Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular mechanisms contributing to optic nerve involvement remain unknown. In addition to investigation of the molecular and cellular mechanisms by which pathogenic NR2F1 variants impact on the development of the neural retina and the optic nerve, this study aimed to characterise the structural and functional changes within the visual pathway in affected individuals. |
Date |
2021-02 |
Language |
eng |
Format |
video/mp4 |
Type |
Image/MovingImage |
Source |
2021 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2021: Scientific Platform I |
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 2021. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6ff9rn2 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Contributor Primary |
Neringa Jurkute, MD, FEBO |
Contributor Secondary |
Michele Bertacchi, Gavin Arno, Chiara Tocco, Ungsoo Kim, Adam Kruszewski, Robert Avery, Emma Bedoukian, Jinu Han, Sung Ahn, James Acheson, Indran Davagnanam, Richard Bowman, Marios Kaliakatsos, Ashwin Reddy, Ngozi Oluonye, Patrizia Amati-Bonneau, Majida Charif, Guy Lenaers, Isabelle Meunier, Sabine Defoort, Catherine Vincent-Delorme, Anthony Robson, Graham Holder, Luc Jean, Antonio Martinez-Monseny, Grant Liu, Andrew Webster, Michèle Studer, Patrick Yu- Wai |
Setname |
ehsl_novel_nam |
ID |
1697218 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6ff9rn2 |