| Identifier |
20150223_nanos_sciplatform1_03-1 |
| Title |
Clinical Features of OPA1-Related Optic Neuropathy |
| Creator |
Eric D Gaier, MD, Clinical Fellow in Ophthalmology, Massachusetts Eye and Ear Infirmary; Katherine Boudreault, MD, Massachusetts Eye and Ear Infirmary; Isao Nakata, MD, Massachusetts Eye and Ear Infirmary; Maria Janessian; Elizabeth Delbono, MD Department of Ophthalmology, New England Medical Center; Simmons Lessell, MD (1933 - 2016), Dean Cestari, Janey L Wiggs, Joseph F. Rizzo III, MD, Massachusetts Eye and Ear |
| 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 |
application/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: 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 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6s49zv7 |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Laura J. Balcer |
| Contributor Secondary |
Beau B. Bruce |
| Setname |
ehsl_novel_nam |
| ID |
185054 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6s49zv7 |
