| Title |
Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778GA MTND4 Mitochondrial DNA Mutation |
| Creator |
Nancy J. Newman, MD; Valerio Carelli, MD, PhD; Magali Taiel, MD; Patrick Yu-Wai-Man, MD, PhD |
| Affiliation |
Departments of Ophthalmology (NJN), Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, Georgia, IRCCS Istituto Delle Scienze Neurologiche di Bologna (VC), UOC Clinica Neurologica, Bologna, Italy, Department of Biomedical and Neuro- motor Sciences (DIBINEM) (VC), Unit of Neurology, University of Bologna, Bologna, Italy, GenSight Biologics (MT), Paris, France, Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit (PY-W-M), Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom, Cambridge Eye Unit (PY-W- M), Addenbrooke's Hospital, Cambridge University Hospitals, Cam- bridge, United Kingdom, Moorfields Eye Hospital (PY-W-M), London, United Kingdom, and UCL Institute of Ophthalmology (PY-W-M), University College London, London, United Kingdom. |
| Abstract |
Leber hereditary optic neuropathy (LHON) is a maternally inherited bilaterally blinding optic neuropathy, predominantly affecting otherwise healthy young individuals, mostly men. The visual prognosis is generally poor, with most patients worsening to at least 20/200 visual acuity. The m.11778G.A ( MTND4) mitochondrial DNA mutation is the most common cause of LHON and is associated with poor outcomes and limited potential for meaningful visual recov- ery. Treatments for LHON are limited, and clinical trials are hampered by inadequate data regarding the natural history of visual loss and recovery. In this article, we review the current literature specifically related to visual function of LHON patients with the m.11778G.A mutation. |
| Subject |
DNA Mutational Analysis; DNA, Mitochondrial / genetics; Humans; NADH Dehydrogenase / genetics; NADH Dehydrogenase / metabolism; Optic Atrophy, Hereditary, Leber / genetics; Optic Atrophy, Hereditary, Leber / metabolism; Optic Atrophy, Hereditary, Leber / physiopathology; Point Mutation; Visual Acuity |
| Date |
2020-12 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, December 2020, Volume 40, Issue 4 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| ARK |
ark:/87278/s6w72gws |
| Setname |
ehsl_novel_jno |
| ID |
1741131 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6w72gws |
