| Identifier |
20130212_nanos_posters_010 |
| Title |
Clinical Features of OPA1-Related Optic Neuropathy: A Retrospective Case Series |
| Creator |
Philip M. Skidd; Eric D. Gaier; Maria Janessian; Simmons Lessel; Dean Cestari; Janey L. Wiggs; Joseph F. Rizzo |
| Affiliation |
(PMS) (SL) (DC) (JFR) Department of Neuro-Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA; (EDG) School of Medicine and Department of Neuroscience, University of Connecticut Health Center, Farmington, CT; (MJ) (JLW) Department of Glaucoma, Massachusetts Eye and Ear Infirmary, Boston, MA; (MJ) (JLW) Howe Laboratory, Massachusetts Eye and Ear Infirmary Boston, MA; (SL) (DC) (JLW) (JFR) Harvard Medical School Boston, MA |
| Subject |
Dominant Optic Atrophy; Kjer's Disease; OPA1 Gene; Hereditary Optic Neuropathy |
| Description |
Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy. The most common form of DOA, DOA type 1 (Kjer's disease) accounts for 40-60% of cases and is associated with mutation of the OPA1 gene. In the largest similar study to date, clinical data were analyzed for mutation positive patients for OPA1, the OPA3 gene, and Leber's hereditary optic neuropathy. In the present study, we evaluated clinical information for patients referred to a major tertiary care center for OPA1 testing for suspected DOA. |
| Date |
2013-02-12 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2013 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2013: Poster Presentations |
| 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/s6w12ckv |
| Setname |
ehsl_novel_nam |
| ID |
183304 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6w12ckv |
