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
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
