| 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: 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/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 |
