| Identifier |
20180304_nanos_posters_025 |
| Title |
Mitochondrial Translation Optimizer-1 Mutation as a Cause of Hereditary Optic Neuropathy |
| Creator |
Emily Li; Francine Testa; Valentina Emmanuele; Christiane De Araujo; Martins Moreno; Michio Hirano; Robert Lesser |
| Affiliation |
(EL) (FT) (RL) Yale University School of Medicine, New Haven, Connecticut; (VE) (CD) (MM) (MH) Columbia University Medical Center, New York, New York |
| Subject |
Optic Neuropathy; Genetic Disease; Neuro-ophth & Systyemic Disease (eg. MS, MG, Thyroid); Pediatric Neuro-Ophthalmology; Ocular Motility |
| Description |
Mitochondrial translation optimizer-1 (MTO1) mutations are a rare cause of hereditary optic neuropathy, with fewer than ten affected families reported in literature. Of these, only one family was reported to have vision loss. We present a case of hereditary optic neuropathy secondary to a mutation in MTO1. |
| Date |
2018-03 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2018 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2018: 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 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s63v3h0d |
| Setname |
ehsl_novel_nam |
| ID |
1307505 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s63v3h0d |
