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<meta name="keywords" content="C1839891, finding, leber hereditary optic neuropathy, modifier of, leber hereditary optic neuropathy, modifier of, x-linked dominant, leber optic atrophy, susceptibility to, lhon, modifier of, loam, loas, prickle3, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; 535000), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by Yu et al., 2020). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene (516003.0001) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease. For a general description and discussion of genetic heterogeneity of Leber optic atrophy, see 535000." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=374333
|
||
ConceptID=C1839891
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Leber optic atrophy, susceptibility to<span class="h1sub">(LOAM; LOAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374333</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF; LHON, MODIFIER OF</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PRICKLE3 - ID: 4007 - NCBI Gene" href="/gene/4007" class="medgenPMinfo">PRICKLE3</a> (Xp11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010640" target="_blank">MONDO:0010640</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/308905" target="_blank">308905</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; 535000), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by Yu et al., 2020). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene (516003.0001) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease. For a general description and discussion of genetic heterogeneity of Leber optic atrophy, see 535000. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_182973"><div><strong>Leber optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0917796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182973">Feature record</a> | <a href="/medgen?term=%22Leber%20optic%20atrophy%22%5BClinical%20Features%5D%20OR%20182973%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_182973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36155660">Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
|
||
Yu-Wai-Man P,
|
||
Biousse V,
|
||
Carelli V</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Feb;22(2):172-188.
|
||
Epub 2022 Sep 22
|
||
doi: 10.1016/S1474-4422(22)00174-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36155660" target="_blank">36155660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33499292">From Transcriptomics to Treatment in Inherited Optic Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilhooley MJ,
|
||
Owen N,
|
||
Moosajee M,
|
||
Yu Wai Man P</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jan 22;12(2)
|
||
doi: 10.3390/genes12020147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33499292" target="_blank">33499292</a><a href="/pmc/articles/PMC7912133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15513454">Treatment of Leber's hereditary optic neuropathy: theory to practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johns DR,
|
||
Colby KA</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2002 Mar;17(1):33-8.
|
||
doi: 10.1076/soph.17.1.33.10288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15513454" target="_blank">15513454</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(leber%20optic%20atrophy%2C%20susceptibility%20to)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39147111">Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Y,
|
||
Wei X,
|
||
Ci X,
|
||
Ji Y,
|
||
Zhang J</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2024 Dec 20;930:148853.
|
||
Epub 2024 Aug 13
|
||
doi: 10.1016/j.gene.2024.148853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39147111" target="_blank">39147111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30081212">Toxic medications in Leber's hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kogachi K,
|
||
Ter-Zakarian A,
|
||
Asanad S,
|
||
Sadun A,
|
||
Karanjia R</span><br />
|
||
<span class="medgenPMjournal">Mitochondrion</span>
|
||
2019 May;46:270-277.
|
||
Epub 2018 Aug 4
|
||
doi: 10.1016/j.mito.2018.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30081212" target="_blank">30081212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29189152">The Progress of Gene Therapy for Leber's Optic Hereditary Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Tian Z,
|
||
Yuan J,
|
||
Liu C,
|
||
Liu HL,
|
||
Ma SQ,
|
||
Li B</span><br />
|
||
<span class="medgenPMjournal">Curr Gene Ther</span>
|
||
2017;17(4):320-326.
|
||
doi: 10.2174/1566523218666171129204926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29189152" target="_blank">29189152</a><a href="/pmc/articles/PMC5902861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27696015">A neurodegenerative perspective on mitochondrial optic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Wai-Man P,
|
||
Votruba M,
|
||
Burté F,
|
||
La Morgia C,
|
||
Barboni P,
|
||
Carelli V</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2016 Dec;132(6):789-806.
|
||
Epub 2016 Sep 30
|
||
doi: 10.1007/s00401-016-1625-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27696015" target="_blank">27696015</a><a href="/pmc/articles/PMC5106504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23545052">Genetic and phenotypic variability of optic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neuhann T,
|
||
Rautenstrauss B</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2013 Apr;13(4):357-67.
|
||
doi: 10.1586/ern.13.19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23545052" target="_blank">23545052</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20optic%20atrophy%2C%20susceptibility%20to%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36155660">Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
|
||
Yu-Wai-Man P,
|
||
Biousse V,
|
||
Carelli V</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Feb;22(2):172-188.
|
||
Epub 2022 Sep 22
|
||
doi: 10.1016/S1474-4422(22)00174-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36155660" target="_blank">36155660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33499292">From Transcriptomics to Treatment in Inherited Optic Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilhooley MJ,
|
||
Owen N,
|
||
Moosajee M,
|
||
Yu Wai Man P</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jan 22;12(2)
|
||
doi: 10.3390/genes12020147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33499292" target="_blank">33499292</a><a href="/pmc/articles/PMC7912133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28314831">Childhood-onset Leber hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Majander A,
|
||
Bowman R,
|
||
Poulton J,
|
||
Antcliff RJ,
|
||
Reddy MA,
|
||
Michaelides M,
|
||
Webster AR,
|
||
Chinnery PF,
|
||
Votruba M,
|
||
Moore AT,
|
||
Yu-Wai-Man P</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2017 Nov;101(11):1505-1509.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1136/bjophthalmol-2016-310072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314831" target="_blank">28314831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17204920">Leber hereditary optic neuropathy possibly triggered by exposure to tire fire.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez RN,
|
||
Smith AJ,
|
||
Carelli V,
|
||
Sadun AA,
|
||
Keltner JL</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2006 Dec;26(4):268-72.
|
||
doi: 10.1097/01.wno.0000249320.27110.ab.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17204920" target="_blank">17204920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16874987">Congenital amaurosis of Leber.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gillespie FD</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1966 May;61(5 Pt 1):874-80.
|
||
doi: 10.1016/0002-9394(66)90928-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16874987" target="_blank">16874987</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20optic%20atrophy%2C%20susceptibility%20to%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27288727">Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez Sanchez MI,
|
||
Crowston JG,
|
||
Mackey DA,
|
||
Trounce IA</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Ther</span>
|
||
2016 Sep;165:132-52.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1016/j.pharmthera.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27288727" target="_blank">27288727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20491810">Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seo JH,
|
||
Hwang JM,
|
||
Park SS</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2010 May;38(4):363-6.
|
||
Epub 2010 Feb 22
|
||
doi: 10.1111/j.1442-9071.2010.02240.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20491810" target="_blank">20491810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17204920">Leber hereditary optic neuropathy possibly triggered by exposure to tire fire.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez RN,
|
||
Smith AJ,
|
||
Carelli V,
|
||
Sadun AA,
|
||
Keltner JL</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2006 Dec;26(4):268-72.
|
||
doi: 10.1097/01.wno.0000249320.27110.ab.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17204920" target="_blank">17204920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15707996">Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qu J,
|
||
Li R,
|
||
Tong Y,
|
||
Hu Y,
|
||
Zhou X,
|
||
Qian Y,
|
||
Lu F,
|
||
Guan MX</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2005 Mar 25;328(4):1139-45.
|
||
doi: 10.1016/j.bbrc.2005.01.062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15707996" target="_blank">15707996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12820379">Sequence variations of mitochondrial DNA and individual sensitivity to the ototoxic effect of cisplatin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters U,
|
||
Preisler-Adams S,
|
||
Lanvers-Kaminsky C,
|
||
Jürgens H,
|
||
Lamprecht-Dinnesen A</span><br />
|
||
<span class="medgenPMjournal">Anticancer Res</span>
|
||
2003 Mar-Apr;23(2B):1249-55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12820379" target="_blank">12820379</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20optic%20atrophy%2C%20susceptibility%20to%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32157656">Testosterone increases apoptotic cell death and decreases mitophagy in Leber's hereditary optic neuropathy cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jankauskaitė E,
|
||
Ambroziak AM,
|
||
Hajieva P,
|
||
Ołdak M,
|
||
Tońska K,
|
||
Korwin M,
|
||
Bartnik E,
|
||
Kodroń A</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2020 May;61(2):195-203.
|
||
Epub 2020 Mar 10
|
||
doi: 10.1007/s13353-020-00550-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32157656" target="_blank">32157656</a><a href="/pmc/articles/PMC7148285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28314831">Childhood-onset Leber hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Majander A,
|
||
Bowman R,
|
||
Poulton J,
|
||
Antcliff RJ,
|
||
Reddy MA,
|
||
Michaelides M,
|
||
Webster AR,
|
||
Chinnery PF,
|
||
Votruba M,
|
||
Moore AT,
|
||
Yu-Wai-Man P</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2017 Nov;101(11):1505-1509.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1136/bjophthalmol-2016-310072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314831" target="_blank">28314831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21112411">Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Wai-Man P,
|
||
Griffiths PG,
|
||
Chinnery PF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2011 Mar;30(2):81-114.
|
||
Epub 2010 Nov 26
|
||
doi: 10.1016/j.preteyeres.2010.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21112411" target="_blank">21112411</a><a href="/pmc/articles/PMC3081075" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15106616">Recent advances in early-onset severe retinal degeneration: more than just basic research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preising MN,
|
||
Heegaard S</span><br />
|
||
<span class="medgenPMjournal">Trends Mol Med</span>
|
||
2004 Feb;10(2):51-4.
|
||
doi: 10.1016/j.molmed.2003.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15106616" target="_blank">15106616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15513454">Treatment of Leber's hereditary optic neuropathy: theory to practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johns DR,
|
||
Colby KA</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2002 Mar;17(1):33-8.
|
||
doi: 10.1076/soph.17.1.33.10288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15513454" target="_blank">15513454</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20optic%20atrophy%2C%20susceptibility%20to%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39147111">Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Y,
|
||
Wei X,
|
||
Ci X,
|
||
Ji Y,
|
||
Zhang J</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2024 Dec 20;930:148853.
|
||
Epub 2024 Aug 13
|
||
doi: 10.1016/j.gene.2024.148853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39147111" target="_blank">39147111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28314831">Childhood-onset Leber hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Majander A,
|
||
Bowman R,
|
||
Poulton J,
|
||
Antcliff RJ,
|
||
Reddy MA,
|
||
Michaelides M,
|
||
Webster AR,
|
||
Chinnery PF,
|
||
Votruba M,
|
||
Moore AT,
|
||
Yu-Wai-Man P</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2017 Nov;101(11):1505-1509.
|
||
Epub 2017 Mar 17
|
||
doi: 10.1136/bjophthalmol-2016-310072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28314831" target="_blank">28314831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23545052">Genetic and phenotypic variability of optic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neuhann T,
|
||
Rautenstrauss B</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2013 Apr;13(4):357-67.
|
||
doi: 10.1586/ern.13.19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23545052" target="_blank">23545052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21112411">Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Wai-Man P,
|
||
Griffiths PG,
|
||
Chinnery PF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2011 Mar;30(2):81-114.
|
||
Epub 2010 Nov 26
|
||
doi: 10.1016/j.preteyeres.2010.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21112411" target="_blank">21112411</a><a href="/pmc/articles/PMC3081075" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15106616">Recent advances in early-onset severe retinal degeneration: more than just basic research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preising MN,
|
||
Heegaard S</span><br />
|
||
<span class="medgenPMjournal">Trends Mol Med</span>
|
||
2004 Feb;10(2):51-4.
|
||
doi: 10.1016/j.molmed.2003.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15106616" target="_blank">15106616</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20optic%20atrophy%2C%20susceptibility%20to%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1839891%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
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