Leber’s hereditary optic neuropathy is multiorgan not mono-organ

Josef Finsterer,1 Sinda Zarrouk-Mahjoub2 1Krankenanstalt Rudolfstiftung, Vienna, Austria; 2Genomics Platform, Pasteur Institute of Tunis, Tunisia Abstract: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision pr...

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Autores principales:	Finsterer J, Zarrouk-Mahjoub S
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2016
Materias:	mitochondrial DNA heteroplasmy respiratory chain LHON genotype phenotype correlation Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/541f04ebf2cf41f1b29bff2f274ea315
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spelling	oai:doaj.org-article:541f04ebf2cf41f1b29bff2f274ea3152021-12-02T00:37:41ZLeber’s hereditary optic neuropathy is multiorgan not mono-organ1177-5483https://doaj.org/article/541f04ebf2cf41f1b29bff2f274ea3152016-11-01T00:00:00Zhttps://www.dovepress.com/leberrsquos-hereditary-optic-neuropathy-is-multiorgan-not-mono-organ-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Josef Finsterer,1 Sinda Zarrouk-Mahjoub2 1Krankenanstalt Rudolfstiftung, Vienna, Austria; 2Genomics Platform, Pasteur Institute of Tunis, Tunisia Abstract: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is a multisystem disorder additionally involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system. Multisystem involvement may start before or after the onset of visual impairment. Involvement of organs other than the eyes may be subclinical depending on age, ethnicity, and possibly the heteroplasmy rate of the responsible primary LHON mutation. Primary LHON mutations may rarely manifest without ocular compromise but with arterial hypertension, various neurodegenerative diseases, or Leigh syndrome. Patients with LHON need to be closely followed up to detect at which point organs other than the eyes become affected. Multiorgan disease in LHON often responds more favorably to symptomatic treatment than the ocular compromise. Keywords: mitochondrial DNA, heteroplasmy, respiratory chain, LHON, genotype–phenotype correlationFinsterer JZarrouk-Mahjoub SDove Medical Pressarticlemitochondrial DNAheteroplasmyrespiratory chainLHONgenotype phenotype correlationOphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 10, Pp 2187-2190 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	mitochondrial DNA heteroplasmy respiratory chain LHON genotype phenotype correlation Ophthalmology RE1-994
spellingShingle	mitochondrial DNA heteroplasmy respiratory chain LHON genotype phenotype correlation Ophthalmology RE1-994 Finsterer J Zarrouk-Mahjoub S Leber’s hereditary optic neuropathy is multiorgan not mono-organ
description	Josef Finsterer,1 Sinda Zarrouk-Mahjoub2 1Krankenanstalt Rudolfstiftung, Vienna, Austria; 2Genomics Platform, Pasteur Institute of Tunis, Tunisia Abstract: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is a multisystem disorder additionally involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system. Multisystem involvement may start before or after the onset of visual impairment. Involvement of organs other than the eyes may be subclinical depending on age, ethnicity, and possibly the heteroplasmy rate of the responsible primary LHON mutation. Primary LHON mutations may rarely manifest without ocular compromise but with arterial hypertension, various neurodegenerative diseases, or Leigh syndrome. Patients with LHON need to be closely followed up to detect at which point organs other than the eyes become affected. Multiorgan disease in LHON often responds more favorably to symptomatic treatment than the ocular compromise. Keywords: mitochondrial DNA, heteroplasmy, respiratory chain, LHON, genotype–phenotype correlation
format	article
author	Finsterer J Zarrouk-Mahjoub S
author_facet	Finsterer J Zarrouk-Mahjoub S
author_sort	Finsterer J
title	Leber’s hereditary optic neuropathy is multiorgan not mono-organ
title_short	Leber’s hereditary optic neuropathy is multiorgan not mono-organ
title_full	Leber’s hereditary optic neuropathy is multiorgan not mono-organ
title_fullStr	Leber’s hereditary optic neuropathy is multiorgan not mono-organ
title_full_unstemmed	Leber’s hereditary optic neuropathy is multiorgan not mono-organ
title_sort	leber’s hereditary optic neuropathy is multiorgan not mono-organ
publisher	Dove Medical Press
publishDate	2016
url	https://doaj.org/article/541f04ebf2cf41f1b29bff2f274ea315
work_keys_str_mv	AT finstererj leberrsquoshereditaryopticneuropathyismultiorgannotmonoorgan AT zarroukmahjoubs leberrsquoshereditaryopticneuropathyismultiorgannotmonoorgan
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Leber&rsquo;s hereditary optic neuropathy is multiorgan not mono-organ

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Leber’s hereditary optic neuropathy is multiorgan not mono-organ