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<meta name="keywords" content="CN239221, disease or syndrome, optic atrophy, recessive, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=893368
|
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ConceptID=CN239221
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Optic Atrophy, Recessive</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893368</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">CN239221</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></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_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>
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<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/35531455">Further advances in the diagnosis and treatment of Leber's Hereditary Optic Neuropathy - a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tăbăcaru B,
|
||
Stanca HT</span><br />
|
||
<span class="medgenPMjournal">Rom J Ophthalmol</span>
|
||
2022 Jan-Mar;66(1):13-16.
|
||
doi: 10.22336/rjo.2022.4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35531455" target="_blank">35531455</a><a href="/pmc/articles/PMC9022147" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31761904">Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Staufner C,
|
||
Peters B,
|
||
Wagner M,
|
||
Alameer S,
|
||
Barić I,
|
||
Broué P,
|
||
Bulut D,
|
||
Church JA,
|
||
Crushell E,
|
||
Dalgıç B,
|
||
Das AM,
|
||
Dick A,
|
||
Dikow N,
|
||
Dionisi-Vici C,
|
||
Distelmaier F,
|
||
Bozbulut NE,
|
||
Feillet F,
|
||
Gonzales E,
|
||
Hadzic N,
|
||
Hauck F,
|
||
Hegarty R,
|
||
Hempel M,
|
||
Herget T,
|
||
Klein C,
|
||
Konstantopoulou V,
|
||
Kopajtich R,
|
||
Kuster A,
|
||
Laass MW,
|
||
Lainka E,
|
||
Larson-Nath C,
|
||
Leibner A,
|
||
Lurz E,
|
||
Mayr JA,
|
||
McKiernan P,
|
||
Mention K,
|
||
Moog U,
|
||
Mungan NO,
|
||
Riedhammer KM,
|
||
Santer R,
|
||
Palafoll IV,
|
||
Vockley J,
|
||
Westphal DS,
|
||
Wiedemann A,
|
||
Wortmann SB,
|
||
Diwan GD,
|
||
Russell RB,
|
||
Prokisch H,
|
||
Garbade SF,
|
||
Kölker S,
|
||
Hoffmann GF,
|
||
Lenz D</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Mar;22(3):610-621.
|
||
Epub 2019 Nov 25
|
||
doi: 10.1038/s41436-019-0698-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31761904" target="_blank">31761904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31337416">Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pallotta MT,
|
||
Tascini G,
|
||
Crispoldi R,
|
||
Orabona C,
|
||
Mondanelli G,
|
||
Grohmann U,
|
||
Esposito S</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2019 Jul 23;17(1):238.
|
||
doi: 10.1186/s12967-019-1993-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31337416" target="_blank">31337416</a><a href="/pmc/articles/PMC6651977" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(optic%20atrophy%2C%20recessive)%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 (14)</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">
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||
<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/38139324">DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skorczyk-Werner A,
|
||
Tońska K,
|
||
Maciejczuk A,
|
||
Nowomiejska K,
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Nürnberg P,
|
||
Zuchner S,
|
||
Klockgether T,
|
||
Ramirez A,
|
||
Schüle R</span><br />
|
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<span class="medgenPMjournal">Brain</span>
|
||
2017 Jun 1;140(6):1561-1578.
|
||
doi: 10.1093/brain/awx095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28459997" target="_blank">28459997</a><a href="/pmc/articles/PMC6402316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18470892">GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goloni-Bertollo EM,
|
||
Ruiz MT,
|
||
Goloni CB,
|
||
Muniz MP,
|
||
Valério NI,
|
||
Pavarino-Bertelli EC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2008 Jun 15;146A(12):1523-9.
|
||
doi: 10.1002/ajmg.a.32157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18470892" target="_blank">18470892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20Atrophy%2C%20Recessive%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 (159)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37349768">Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dulski J,
|
||
Souza J,
|
||
Santos ML,
|
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Wszolek ZK</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2023 Jun 22;18(1):160.
|
||
doi: 10.1186/s13023-023-02772-9.
|
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<span class="bold">PMID: </span><a href="/pubmed/37349768" target="_blank">37349768</a><a href="/pmc/articles/PMC10288773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lim HD,
|
||
Lee SM,
|
||
Yun YJ,
|
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Lee DH,
|
||
Lee JH,
|
||
Oh SH,
|
||
Lee SY</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
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2023 Apr 11;16(1):79.
|
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doi: 10.1186/s12920-023-01506-x.
|
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<span class="bold">PMID: </span><a href="/pubmed/37041640" target="_blank">37041640</a><a href="/pmc/articles/PMC10088283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/36764396">Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">de Muijnck C,
|
||
Brink JBT,
|
||
Bergen AA,
|
||
Boon CJF,
|
||
van Genderen MM</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
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2023 Jul-Aug;68(4):641-654.
|
||
Epub 2023 Feb 9
|
||
doi: 10.1016/j.survophthal.2023.01.012.
|
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<span class="bold">PMID: </span><a href="/pubmed/36764396" target="_blank">36764396</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/35055657">Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.</a></div>
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|
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Di Candia F,
|
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Occhiati L,
|
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Fedi L,
|
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Malvone FP,
|
||
Foschini DF,
|
||
Franzese A,
|
||
Mozzillo E</span><br />
|
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<span class="medgenPMjournal">Int J Environ Res Public Health</span>
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2022 Jan 12;19(2)
|
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doi: 10.3390/ijerph19020835.
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