| Identifier |
20110208_nanos_posters_004 |
| Title |
Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy due to OPA1 Mutations |
| Creator |
Patrick Yu-Wai-Man; Alaa Atawan; Maura Bailie; Patrick Francis Chinnery; Philip Guy Griffiths |
| Affiliation |
(AA) (MB) (PGG) Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom; (PY) (PFC) Mitochondrial Research Group, Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom |
| Subject |
Autosomal Dominant Optic Atrophy; OPA1; Mitochondrial DNA; Optical Coherence Tomography; Retinal Ganglion Cells |
| Description |
Autosomal dominant optic atrophy (DOA) is the most common inherited optic nerve disorder and about 60% of patients harbor pathogenic mutations in the OPA1 gene. Although the pathological hallmark of DOA is the preferential loss of retinal ganglion cells (RGC), up to 20% of patients with OPA1 mutations will develop a more severe disease variant (DOA+) with additional neuromuscular features. |
| Date |
2011-02-08 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2011 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2011: 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 2011. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6md25hs |
| Setname |
ehsl_novel_nam |
| ID |
181758 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6md25hs |
