| Identifier |
20230312_nanos_posters_014 |
| Title |
Leber Hereditary Optic Neuropathy in a Middle-Aged Black American Female Patient with Mutation G35356A |
| Creator |
Lindsay Chun; Jeffrey Nichols |
| Affiliation |
(LC) (JN) University of Chicago Medical Center |
| Subject |
Genetic Disease; Optic Neuropathy |
| Description |
Leber Hereditary Optic Neuropathy (LHON) is an inherited mitochondrial disorder that classically affects young males presenting with unilateral progressive optic neuropathy with sequential involvement of the fellow eye. 90% of cases are caused by 3 mitochondrial DNA (mt-DNA) mutations: G11778A, T14484C, and G3460A. Herein, we present an exceedingly rare case of LHON involving a middle-aged black female patient with an identified mutation, G35356A of the mt-ND1 gene. |
| 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: Disorders of the Anterior Visual Pathway (Retina, Optic Nerve, and Chiasm) |
| 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 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6m7antd |
| Setname |
ehsl_novel_nam |
| ID |
2335221 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6m7antd |
