| Identifier |
20150224_nanos_posters_218 |
| Title |
Novel Retinal Observations in Genetically Confirmed Kearns Sayre Syndrome |
| Creator |
Thomas M. Bosley; Darren T. Oystreck; Khaled K. Abu-Amero; Sawsan R. Nowilaty; Emma L. Blakely; Robert Taylor; Igor Kozak |
| Affiliation |
(TMB) (KKA) King Saud University/Ophthalmology, Riyadh, Saudi Arabia; (DTO) University of Stellenbosch/Ophthalmology, Tygerberg, South Africa; (SRN) (IK) King Khaled Eye Specialist Hospital/Ophthalmology, Riyadh, Saudi Arabia; (ELB) (RT) Newcastle University/Wellcome Trust Centre for Mitochondrial Research Newcastle Upon Tyne, United Kingdom |
| Subject |
Kearns Sayre Syndrome; Mitochondria; Pigmentary Retinopathy; Epiretinal Fibrosis; Progressive External Ophthalmoplegia |
| Description |
Kearns Sayre Syndrome (KSS) is a complex mitochondrial syndrome typically caused by a single, large-scale mitochondrial DNA (mtDNA) deletion that presents before the age of 20 years with progressive external ophthalmoplegia, pigmentary retinopathy, and other neurologic and medical problems. We emphasize the retinal changes, including several novel observations, in three clinically and genetically characterized patients with KSS. |
| Date |
2015-02-24 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2015 North American Neuro-Ophthalmology Society Annual Meeting |
| 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 |
| ARK |
ark:/87278/s66h7q71 |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
184834 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s66h7q71 |
