| Identifier |
20230312_nanos_posters_081 |
| Title |
First Case of M.8502-13402 Deletion Causing Chronic Progressive External Ophthalmoplegia |
| Creator |
Sahitya Podila; Pamela Davila; Noor Laylani; Andrew Lee |
| Affiliation |
(SP) University of Texas Medical Branch; (PD) (NL) Houston Methodist Hospital (AL) 1. Center for Space Medicine, Baylor College of Medicine, Houston, TX; 2. Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, TX; 3. The Houston Methodist Research Institute, Houston Methodist Hospital, Houston, TX; 4. Departments of Ophthalmology, Neurology, and Neurosurgery, Weill Cornell Medicine, New York, NY; 5. Department of Ophthalmology, University of Texas Medical Branch, Galveston, TX; 6. University of Texas MD Anderson Cancer Center, Houston, TX; 7. Texas A&M College of Medicine, TX; 8. Department of Ophthalmology, The University of Iowa Hospitals and Clinics, Iowa City, IA |
| Subject |
Neuro-ophthalmology & Systemic Disease (eg. MS, MG, Thyroid); Genetic Disease |
| Description |
Chronic progressive ophthalmoplegia (CPEO) is a hereditary myopathy of extraocular eye muscles commonly manifesting as bilateral ptosis and ophthalmoplegia. Most cases are due to mitochondrial DNA deletions. Due to significant advancements in exome sequencing, new pathogenic variants for CPEO have recently been discovered. |
| Date |
2023-03-14 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2023 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2023: Poster Session I: Neuro-Ophthalmic Disorders of Neurologic and Systemic Diseases |
| 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 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6nsrf4e |
| Setname |
ehsl_novel_nam |
| ID |
2335287 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6nsrf4e |
