Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?

J Neuroophthalmol

Baylor College of Medicine (JZ), Houston, Texas, US; Department of Ophthalmology (SR, PWM, AGL), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; MITOVASC Institute (MF, PR, DM), CNRS 6015, INSERM U1083, University of Angers, France ; Singapore National Eye Center (DM), Singapore, Singapore ; Singapore Eye Research Institute (DM), Singapore, Singapore ; Duke-NUS Medical School (DM), Singapore, Singapore ; Copenhagen University Hospital Denmark (DM), Copenhagen, Denmark; Departments of Ophthalmology (AGL), Neurology, and Neurosurgery, Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas; University of Texas MD Anderson Cancer Center (AGL), Houston, Texas; Texas A and M College of Medicine (AGL), Bryan, Texas; and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa.

Published: June 2022

Download full-text PDF

Source
http://dx.doi.org/10.1097/WNO.0000000000001352DOI Listing

Publication Analysis

Top Keywords

dominant optic
4
optic atrophy
4
atrophy determine
4
determine pathogenicity
4
pathogenicity novel
4
novel variants?
4
dominant
1
atrophy
1
determine
1
pathogenicity
1

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!