| Identifier |
20150223_nanos_sciplatform1_03-1 |
| Title |
Clinical Features of OPA1-Related Optic Neuropathy |
| Creator |
Eric D Gaier, MD; Katherine Boudreault, MD; Isao Nakata, MD; Maria Janessian; Elizabeth Delbono, MD; Simmons Lessell, MD (1933 - 2016); Dean Cestari; Janey L. Wiggs; Joseph F. Rizzo III, MD |
| Affiliation |
(EDG) (KB) (IN) (JFR) Massachusetts Eye and Ear Infirmary; (ED) New England Medical Center |
| 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 |
application/pdf |
| Format Creation |
Microsoft PowerPoint |
| Type |
Text |
| Source |
2015 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2015 Platform Session 1 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6s49zv7 |
| Setname |
ehsl_novel_nam |
| ID |
185054 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6s49zv7 |
