Leber hereditary optic neuropathy: current perspectives

Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral ce...

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Autores principales:	Meyerson C, Van Stavern G, McClell, C
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2015
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/7fa6a62a5eaa417eb68ee4991be277d2
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spelling	oai:doaj.org-article:7fa6a62a5eaa417eb68ee4991be277d22021-12-02T06:31:48ZLeber hereditary optic neuropathy: current perspectives1177-5483https://doaj.org/article/7fa6a62a5eaa417eb68ee4991be277d22015-06-01T00:00:00Zhttp://www.dovepress.com/leber-hereditary-optic-neuropathy-current-perspectives-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. Keywords: Leber hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNAMeyerson CVan Stavern GMcClellCDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2015, Iss default, Pp 1165-1176 (2015)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Meyerson C Van Stavern G McClell C Leber hereditary optic neuropathy: current perspectives
description	Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. Keywords: Leber hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNA
format	article
author	Meyerson C Van Stavern G McClell C
author_facet	Meyerson C Van Stavern G McClell C
author_sort	Meyerson C
title	Leber hereditary optic neuropathy: current perspectives
title_short	Leber hereditary optic neuropathy: current perspectives
title_full	Leber hereditary optic neuropathy: current perspectives
title_fullStr	Leber hereditary optic neuropathy: current perspectives
title_full_unstemmed	Leber hereditary optic neuropathy: current perspectives
title_sort	leber hereditary optic neuropathy: current perspectives
publisher	Dove Medical Press
publishDate	2015
url	https://doaj.org/article/7fa6a62a5eaa417eb68ee4991be277d2
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Leber hereditary optic neuropathy: current perspectives

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