Identifier |
20180304_nanos_posters_038 |
Title |
Acrodermatitis Enteropatica (AEZ) and Retinal Ganglion Cell Dysfunction - Is There a Causal Relationship? |
Creator |
Neringa Jurkute; Andrew Webster; Anthony Robson; Graham Holder; Gavin Arno; Naushin Waseem; Patrick Yu Wai Man |
Affiliation |
(NJ) University College London, Institute of Ophthalmology; Moorfields Eye Hospital, London, United Kingdom; (AW) (AR) (GA) (PYWM) University College London; Moorfields Eye Hospital, London, United Kingdom; (GH) University College London; Moorfields Eye Hospital; National University of Singapore, Singapore, Singapore; (NW) University College London, London, United Kingdom |
Subject |
Genetic Disease; Optic Neuropathy |
Description |
AEZ (MIM_201100) is a rare zinc deficiency disorder caused by mutations in the SLC39A4 gene (MIM_607059) on chromosome 8q24 with a prevalence of approximately 1 in 500,000 children [1]. A few cases of optic atrophy have been reported in association with AEZ, but it was not clear whether this was caused by ocular drug toxicity or secondary to the zinc deficiency per se [2,3]. |
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: 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 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6xh3r1r |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1307518 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6xh3r1r |