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<meta name="keywords" content="C1853139, disease or syndrome, dnm1l, opa5, optic atrophy 5, 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="OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Optic atrophy 5 (Concept Id: C1853139)
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<!--
|
||
UID=377837
|
||
ConceptID=C1853139
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Optic atrophy 5<span class="h1sub">(OPA5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377837</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."><span class="highlight" style="background-color:">C1853139</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>OPA5</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="DNM1L - ID: 10059 - NCBI Gene" href="/gene/10059" class="medgenPMinfo">DNM1L</a> (12p11.21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012543" target="_blank">MONDO:0012543</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610708" target="_blank">610708</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>
|
||
<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">OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [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_892912"><div><strong>Abnormality of pattern visual evoked potentials</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892912</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.">C4072946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892912">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20pattern%20visual%20evoked%20potentials%22%5BClinical%20Features%5D%20OR%20892912%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_57750"><div><strong>Central scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57750</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.">C0152191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of depressed vision located at the point of fixation and that interferes with central vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57750">Feature record</a> | <a href="/medgen?term=%22Central%20scotoma%22%5BClinical%20Features%5D%20OR%2057750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57827"><div><strong>Blue color blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57827</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.">C0155017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57827">Feature record</a> | <a href="/medgen?term=%22Blue%20color%20blindness%22%5BClinical%20Features%5D%20OR%2057827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68613"><div><strong>Constriction of peripheral visual field</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68613</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.">C0235095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68613">Feature record</a> | <a href="/medgen?term=%22Constriction%20of%20peripheral%20visual%20field%22%5BClinical%20Features%5D%20OR%2068613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108218"><div><strong>Optic disc pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108218</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.">C0554970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108218">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20pallor%22%5BClinical%20Features%5D%20OR%20108218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343976"><div><strong>Slow decrease in visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343976</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.">C1853141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343976">Feature record</a> | <a href="/medgen?term=%22Slow%20decrease%20in%20visual%20acuity%22%5BClinical%20Features%5D%20OR%20343976%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><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_57827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue color blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constriction of peripheral visual field</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc pallor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slow decrease in visual acuity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of pattern visual evoked potentials</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/35270448">Metabolic Treatment of Wolfram Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iafusco D,
|
||
Zanfardino A,
|
||
Piscopo A,
|
||
Curto S,
|
||
Troncone A,
|
||
Chianese A,
|
||
Rollato AS,
|
||
Testa V,
|
||
Iafusco F,
|
||
Maione G,
|
||
Pennarella A,
|
||
Boccabella L,
|
||
Ozen G,
|
||
Palma PL,
|
||
Mazzaccara C,
|
||
Tinto N,
|
||
Miraglia Del Giudice E</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Feb 27;19(5)
|
||
doi: 10.3390/ijerph19052755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35270448" target="_blank">35270448</a><a href="/pmc/articles/PMC8910219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31574284">Ophthalmological management in craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Touzé R,
|
||
Bremond-Gignac D,
|
||
Robert MP</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):310-317.
|
||
Epub 2019 Sep 28
|
||
doi: 10.1016/j.neuchi.2019.09.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31574284" target="_blank">31574284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10505828">Management of traumatic hyphema: therapeutic options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crouch ER Jr,
|
||
Crouch ER</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1999 Sep-Oct;36(5):238-50; quiz 279-80.
|
||
doi: 10.3928/0191-3913-19990901-04.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10505828" target="_blank">10505828</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(optic%20atrophy%205)%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 (75)</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/38428428">Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Wai-Man P,
|
||
Carelli V,
|
||
Newman NJ,
|
||
Silva MJ,
|
||
Linden A,
|
||
Van Stavern G,
|
||
Szaflik JP,
|
||
Banik R,
|
||
Lubiński W,
|
||
Pemp B,
|
||
Liao YJ,
|
||
Subramanian PS,
|
||
Misiuk-Hojło M,
|
||
Newman S,
|
||
Castillo L,
|
||
Kocięcki J,
|
||
Levin MH,
|
||
Muñoz-Negrete FJ,
|
||
Yagan A,
|
||
Cherninkova S,
|
||
Katz D,
|
||
Meunier A,
|
||
Votruba M,
|
||
Korwin M,
|
||
Dziedziak J,
|
||
Jurkutė N,
|
||
Harvey JP,
|
||
La Morgia C,
|
||
Priglinger C,
|
||
Llòria X,
|
||
Tomasso L,
|
||
Klopstock T;
|
||
LEROS Study Group</span><br />
|
||
<span class="medgenPMjournal">Cell Rep Med</span>
|
||
2024 Mar 19;5(3):101437.
|
||
Epub 2024 Feb 29
|
||
doi: 10.1016/j.xcrm.2024.101437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38428428" target="_blank">38428428</a><a href="/pmc/articles/PMC10982982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38272025">Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aleo SJ,
|
||
Del Dotto V,
|
||
Romagnoli M,
|
||
Fiorini C,
|
||
Capirossi G,
|
||
Peron C,
|
||
Maresca A,
|
||
Caporali L,
|
||
Capristo M,
|
||
Tropeano CV,
|
||
Zanna C,
|
||
Ross-Cisneros FN,
|
||
Sadun AA,
|
||
Pignataro MG,
|
||
Giordano C,
|
||
Fasano C,
|
||
Cavaliere A,
|
||
Porcelli AM,
|
||
Tioli G,
|
||
Musiani F,
|
||
Catania A,
|
||
Lamperti C,
|
||
Marzoli SB,
|
||
De Negri A,
|
||
Cascavilla ML,
|
||
Battista M,
|
||
Barboni P,
|
||
Carbonelli M,
|
||
Amore G,
|
||
La Morgia C,
|
||
Smirnov D,
|
||
Vasilescu C,
|
||
Farzeen A,
|
||
Blickhaeuser B,
|
||
Prokisch H,
|
||
Priglinger C,
|
||
Livonius B,
|
||
Catarino CB,
|
||
Klopstock T,
|
||
Tiranti V,
|
||
Carelli V,
|
||
Ghelli AM</span><br />
|
||
<span class="medgenPMjournal">Cell Rep Med</span>
|
||
2024 Feb 20;5(2):101383.
|
||
Epub 2024 Jan 24
|
||
doi: 10.1016/j.xcrm.2023.101383.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38272025" target="_blank">38272025</a><a href="/pmc/articles/PMC10897523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36350566">Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
|
||
Yu-Wai-Man P,
|
||
Subramanian PS,
|
||
Moster ML,
|
||
Wang AG,
|
||
Donahue SP,
|
||
Leroy BP,
|
||
Carelli V,
|
||
Biousse V,
|
||
Vignal-Clermont C,
|
||
Sergott RC,
|
||
Sadun AA,
|
||
Rebolleda Fernández G,
|
||
Chwalisz BK,
|
||
Banik R,
|
||
Bazin F,
|
||
Roux M,
|
||
Cox ED,
|
||
Taiel M,
|
||
Sahel JA;
|
||
LHON REFLECT Study Group</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Apr 19;146(4):1328-1341.
|
||
doi: 10.1093/brain/awac421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36350566" target="_blank">36350566</a><a href="/pmc/articles/PMC10115230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24005734">Biotinidase deficiency in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venkataraman V,
|
||
Balaji P,
|
||
Panigrahi D,
|
||
Jamal R</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2013 Jul-Aug;61(4):411-3.
|
||
doi: 10.4103/0028-3886.117614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24005734" target="_blank">24005734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22266889">The genetics of mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis RL,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2011 Nov;31(5):519-30.
|
||
Epub 2012 Jan 21
|
||
doi: 10.1055/s-0031-1299790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22266889" target="_blank">22266889</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%205%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 (939)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38428428">Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Wai-Man P,
|
||
Carelli V,
|
||
Newman NJ,
|
||
Silva MJ,
|
||
Linden A,
|
||
Van Stavern G,
|
||
Szaflik JP,
|
||
Banik R,
|
||
Lubiński W,
|
||
Pemp B,
|
||
Liao YJ,
|
||
Subramanian PS,
|
||
Misiuk-Hojło M,
|
||
Newman S,
|
||
Castillo L,
|
||
Kocięcki J,
|
||
Levin MH,
|
||
Muñoz-Negrete FJ,
|
||
Yagan A,
|
||
Cherninkova S,
|
||
Katz D,
|
||
Meunier A,
|
||
Votruba M,
|
||
Korwin M,
|
||
Dziedziak J,
|
||
Jurkutė N,
|
||
Harvey JP,
|
||
La Morgia C,
|
||
Priglinger C,
|
||
Llòria X,
|
||
Tomasso L,
|
||
Klopstock T;
|
||
LEROS Study Group</span><br />
|
||
<span class="medgenPMjournal">Cell Rep Med</span>
|
||
2024 Mar 19;5(3):101437.
|
||
Epub 2024 Feb 29
|
||
doi: 10.1016/j.xcrm.2024.101437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38428428" target="_blank">38428428</a><a href="/pmc/articles/PMC10982982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25974649">Chloroquine retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganne P,
|
||
Srinivasan R</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2015 May;133(5):603-4.
|
||
doi: 10.1001/jamaophthalmol.2014.6127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25974649" target="_blank">25974649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24005734">Biotinidase deficiency in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venkataraman V,
|
||
Balaji P,
|
||
Panigrahi D,
|
||
Jamal R</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2013 Jul-Aug;61(4):411-3.
|
||
doi: 10.4103/0028-3886.117614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24005734" target="_blank">24005734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22800795">Ophthalmological findings in congenital cytomegalovirus infection: when to screen, when to treat?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghekiere S,
|
||
Allegaert K,
|
||
Cossey V,
|
||
Van Ranst M,
|
||
Cassiman C,
|
||
Casteels I</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2012 Sep-Oct;49(5):274-82.
|
||
Epub 2012 Jul 17
|
||
doi: 10.3928/01913913-20120710-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22800795" target="_blank">22800795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22075441">Visual inspection methods for cervical cancer prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sankaranarayanan R,
|
||
Nessa A,
|
||
Esmy PO,
|
||
Dangou JM</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2012 Apr;26(2):221-32.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1016/j.bpobgyn.2011.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22075441" target="_blank">22075441</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%205%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 (1072)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38272025">Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aleo SJ,
|
||
Del Dotto V,
|
||
Romagnoli M,
|
||
Fiorini C,
|
||
Capirossi G,
|
||
Peron C,
|
||
Maresca A,
|
||
Caporali L,
|
||
Capristo M,
|
||
Tropeano CV,
|
||
Zanna C,
|
||
Ross-Cisneros FN,
|
||
Sadun AA,
|
||
Pignataro MG,
|
||
Giordano C,
|
||
Fasano C,
|
||
Cavaliere A,
|
||
Porcelli AM,
|
||
Tioli G,
|
||
Musiani F,
|
||
Catania A,
|
||
Lamperti C,
|
||
Marzoli SB,
|
||
De Negri A,
|
||
Cascavilla ML,
|
||
Battista M,
|
||
Barboni P,
|
||
Carbonelli M,
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<div class="nl"><a target="_blank" href="/pubmed/38272025">Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.</a></div>
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Zanna C,
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Ross-Cisneros FN,
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Sadun AA,
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Pignataro MG,
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Giordano C,
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Fasano C,
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Cavaliere A,
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Porcelli AM,
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Tioli G,
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Musiani F,
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Catania A,
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Lamperti C,
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Marzoli SB,
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De Negri A,
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Cascavilla ML,
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Battista M,
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Barboni P,
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Carbonelli M,
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Amore G,
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La Morgia C,
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Smirnov D,
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Vasilescu C,
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Farzeen A,
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Blickhaeuser B,
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Prokisch H,
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Priglinger C,
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Livonius B,
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Catarino CB,
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Klopstock T,
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Tiranti V,
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Carelli V,
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Ghelli AM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38272025" target="_blank">38272025</a><a href="/pmc/articles/PMC10897523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36350566">Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
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Yu-Wai-Man P,
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Subramanian PS,
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Sahel JA;
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<div class="nl"><a target="_blank" href="/pubmed/34708738">Asymmetric diabetic retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Azad R,
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<div class="nl"><a target="_blank" href="/pubmed/22075441">Visual inspection methods for cervical cancer prevention.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sankaranarayanan R,
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Nessa A,
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Esmy PO,
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Dangou JM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/22075441" target="_blank">22075441</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%205%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 (591)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37810989">Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ortigoza-Escobar JD</span><br />
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<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
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2023;13:36.
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Epub 2023 Oct 6
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doi: 10.5334/tohm.801.
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<span class="bold">PMID: </span><a href="/pubmed/37810989" target="_blank">37810989</a><a href="/pmc/articles/PMC10558026" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36068132">Causes of low vision in children: A systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Garzón-Rodríguez MC,
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||
Reyes-Figueredo LS,
|
||
Velandia-Rodríguez LÁ,
|
||
Méndez-Ruiz OD,
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Gómez-Rodríguez MA,
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Esguerra-Ochoa LT,
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García-Lozada D</span><br />
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<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
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2023 Feb;98(2):83-97.
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Epub 2022 Sep 6
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doi: 10.1016/j.oftale.2022.06.016.
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||
<span class="bold">PMID: </span><a href="/pubmed/36068132" target="_blank">36068132</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32032457">Acupuncture for glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Law SK,
|
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Wang L,
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Li T</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/32032457" target="_blank">32032457</a><a href="/pmc/articles/PMC7006956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28920886">Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petzold A,
|
||
Balcer LJ,
|
||
Calabresi PA,
|
||
Costello F,
|
||
Frohman TC,
|
||
Frohman EM,
|
||
Martinez-Lapiscina EH,
|
||
Green AJ,
|
||
Kardon R,
|
||
Outteryck O,
|
||
Paul F,
|
||
Schippling S,
|
||
Vermersch P,
|
||
Villoslada P,
|
||
Balk LJ;
|
||
ERN-EYE IMSVISUAL</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2017 Oct;16(10):797-812.
|
||
Epub 2017 Sep 12
|
||
doi: 10.1016/S1474-4422(17)30278-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28920886" target="_blank">28920886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23728656">Acupuncture for glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Law SK,
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Li T</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/23728656" target="_blank">23728656</a><a href="/pmc/articles/PMC4260653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%205%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853139%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853139%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853139%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853139%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610708" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Optic%20atrophy%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(optic%20atrophy%205)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Optic%20atrophy%205%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Optic+atrophy+5/5383" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/optic_atrophy_5" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Optic%20atrophy%205" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10201/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=377837" ref="log$=recordlinks">ClinVar</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc47c8f4a390645ed50db6">Optic atrophy 5</a>
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