Identifier |
20180304_nanos_posters_073 |
Title |
Optic Neuropathy in Riboflavin Transporter Deficiency (Brown-Vialetto Van Lear syndrome) |
Creator |
Kannan Narayana; Jaime Vengoechea; Michael Silver |
Affiliation |
(KN) (JV) (MS) Emory University School of Medicine, Atlanta, Georgia |
Subject |
Genetic Disease |
Description |
Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare autosomal recessive degenerative disorder, associated with mutations in the SLC52A2 and SLC52A3 genes, thought to be involved in the transport of riboflavin. Manifestations include motor neuronopathy (proximal / distal limb weakness, severe distal wasting and can lead to paralysis of the diaphragm), sensory neuronopathy ( gait ataxia) and cranial neuronopathy (manifesting as optic atrophy, sensorineural deafness, bulbar palsy). Onset is usually in infancy or in childhood. Typical initial finding is sensorineural deafness, which is usually progressive and severe. |
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/s68d3w6q |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1308333 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s68d3w6q |