| Identifier |
20220213_nanos_posters_201 |
| Title |
Bilateral Optic Atrophy and Sensorineural Hearing Loss in Two Siblings With Brown-Vialetto-Van Laere Syndrome |
| Creator |
Micalla Peng; Melinda Chang; Mark Borchert |
| Affiliation |
(MP) USC Keck School of Medicine, Los Angeles, CA; (MC) (MB) Children's Hospital Los Angeles, USC Keck School of Medicine, Los Angeles, CA |
| Subject |
Genetic Disease; Pediatric Neuro-ophthalmology |
| Description |
The differential diagnosis of optic atrophy and hearing loss includes genetic disorders such as Wolfram syndrome and dominant optic atrophy. We report two siblings with optic atrophy, sensorineural hearing loss, and sensory neuropathy with ataxia that were found to have heterozygous pathogenic mutations in SLC52A2, a riboflavin transporter gene that is associated with Brown-Vialetto-Van Laere (BVVL) syndrome. |
| Date |
2022-02 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2022: Poster Session I: Pediatric Neuro-Ophthalmology |
| 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 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6j75tdp |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2063395 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6j75tdp |
