Identifier |
20180304_nanos_posters_111 |
Title |
Novel Recessive Mutations in SLC38A8 Causing Infantile onset Nystagmus with Foveal Hypoplasia |
Creator |
Kim Bo Ram; Jun Ikhyun; Kim Hye Young; Park Hye Won; Han Sueng-Han; Han Jinu |
Affiliation |
(KBR) (JI) (PHW) (HS) (HJ) Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea, Republic of; (KHY) Department of Ophthalmology, National Health Insurance Service Ilsan Hospital, Goyang, Korea, Republic of |
Subject |
Genetic Disease; Nystagmus |
Description |
Foveal hypoplasia is a developmental eye disorder, often associated with aniridia, ocular albinism or retinopathy of prematurity. We report a rare case of a patient with nystagmus and foveal hypoplasia caused by autosomal recessive SLC38A8 (OMIM: 615585) mutations. |
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/s6qk1hcd |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1309424 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6qk1hcd |