| Identifier |
20220215_nanos_sciplatform3_05 |
| Title |
Genotype-Phenotype Correlations in Autosomal Dominant Optic Atrophy |
| Creator |
Joshua Harvey; Eun Hee Hong; Gerard Smits; Neringa Jerkute; Gavin Arno; Victoria Nesbitt; Marcela Votruba; Patrick Yu-Wai-Man |
| Affiliation |
(JH) Moorfields Eye Hospital, camberwell, United Kingdom of Great Britain and Northern Ireland; (EHH) Hanyang University Medical Center, Seoul, Korea (Republic of); (GS) GenSight Biologics, New York; (NJ) (PY) Moorfields Eye Hospital, London, United Kingdom of Great Britain and Northern Ireland; (GA) University College London, London, United Kingdom of Great Britain and Northern Ireland; (VN) Department of Paediatrics, The Children's Hospital, Oxford, United Kingdom of Great Britain and Northern Ireland; (MV) Cardiff Eye Unit, University Hospital of Wales, Cardiff, United Kingdom of Great Britain and Northern Ireland |
| Subject |
Genetic Disease; Neuro-ophth & Systemic Disease (eg. MS, MG, Thyroid); Optic Neuropathy |
| Description |
Autosomal dominant optic atrophy (DOA) is the commonest inherited optic neuropathy, yet there is limited natural history data on disease progression. This presents a major challenge with regards to counselling patients on visual prognosis and establishing outcome measures for therapeutic studies. This study sought to establish the natural history of DOA in a large patient cohort with a confirmed molecular diagnosis. |
| Date |
2022-02 |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2022: Scientific Platform III |
| 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/s644p6nz |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2187019 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s644p6nz |
