Clinical Features of OPA1-Related Optic Neuropathy: A Focus on Genetic Modifiers (Video)
Creator
Eric D. Gaier; Katherine Boudreault; Isao Nakata; Maria Janessian; Elizabeth DelBono; Simmons Lessell; Dean M. Cestari; Janey L. Wiggs; Joseph F. Rizzo III
Subject
Genetic Disease, Optic Neuropathy, Visual Fields
Description
Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy, and known mutations in OPA1 account for 40-60% of cases. Previous studies investigating clinical features in DOA patients with OPA1 mutations have been limited to a few mutations and few include OPA1 copy number variant (CNV) analyses or mitochondrial genomic analyses. We hypothesized that some clinical presentations depend upon both OPA1 status and the background mitochondrial haplogroup.
Date
2015-02-23
Language
eng
Format
video/mp4
Format Creation
application/video
Type
Image/MovingImage
Source
2015 North American Neuro-Ophthalmology Society Annual Meeting
