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Entry
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- #180000 - RETINAL ARTERIES, TORTUOSITY OF; RATOR
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- OMIM
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<span class="h4">#180000</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(RETINAL ARTERIES, TORTUOSITY OF) OR (COL4A1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11071&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=180000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75326" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111547" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/180000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111547" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 247123003<br />
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<strong>ORPHA:</strong> 75326<br />
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<strong>DO:</strong> 0111547<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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180000
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
|
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|
RETINAL ARTERIES, TORTUOSITY OF; RATOR
|
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</span>
|
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY
|
|
</span>
|
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</h4>
|
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</div>
|
|
</div>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
|
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/13/311?start=-3&limit=10&highlight=311">
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13q34
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<span class="mim-font">
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?Retinal arteries, tortuosity of
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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<span class="mim-font">
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<a href="/entry/180000"> 180000 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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COL4A1
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<span class="mim-font">
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<a href="/entry/120130"> 120130 </a>
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<a href="/clinicalSynopsis/180000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/180000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/180000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Eyes </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Episodic loss of vision <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867328&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867328</a>]</span><br /> -
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Retinal hemorrhages <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28998008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28998008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035317</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000573</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000573</a>]</span><br /> -
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Retinal arteriolar tortuosity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1231183003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1231183003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779553</a>, <a href="https://bioportal.bioontology.org/search?q=C5779554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001136</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001136</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Retinal arteriolar tortuosity develops in adolescence and is progressive<br /> -
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Retinal hemorrhages usually resolve without sequelae<br />
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</span>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<br />
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that retinal arterial tortuosity (RATOR) is caused by heterozygous mutation in the COL4A1 gene (<a href="/entry/120130">120130</a>) on chromosome 13q34. One such family has been reported.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by <a href="#5" class="mim-tip-reference" title="Nischler, C., Egger, S. F., Reitsamer, H. A. <strong>Retinal vessel analysis in familial retinal arteriolar tortuosity.</strong> Spektrum Augenheilkd 25: 8-12, 2011."None>Nischler et al., 2011</a>).</p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Beyer, E. <strong>Familiaere Tortuositas der kleinen Netzhautarterien mit Makulablutung (Familial tortuosity of the small retinal arteries with macular hemorrhage).</strong> Klin. Monatsbl. Augenheilkd. 132: 532-539, 1958."None>Beyer (1958)</a> described tortuous retinal arteries with foveal hemorrhage in a 43-year-old man and his 17-year-old son. A 12-year-old son showed early changes. Polycythemia was present in the 17-year-old. <a href="#9" class="mim-tip-reference" title="Werner, H., Gafner, F. <strong>Beitrag zur familiaeren Tortuositas der kleinen Netzhautarterien.</strong> Ophthalmologica 141: 350-356, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13784464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13784464</a>] [<a href="https://doi.org/10.1159/000304078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13784464">Werner and Gafner (1961)</a> described tortuous arteries in a 47-year-old man and his son and 2 daughters. <a href="#2" class="mim-tip-reference" title="Cagianut, B., Werner, H. <strong>Zum Krankheitsbild der familiaeren Tortuositas der kleinen Netzhautarterien mit Makulablutung.</strong> Klin. Monatsbl. Augenheilkd. 153: 533-542, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5714765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5714765</a>]" pmid="5714765">Cagianut and Werner (1968)</a> observed 4 persons in 1 family with retinal arteriolar tortuosity and recurrent hemorrhages. <a href="#4" class="mim-tip-reference" title="Goldberg, M. F., Pollack, I. P., Green, W. R. <strong>Familial retinal arteriolar tortuosity with retinal hemorrhage.</strong> Am. J. Ophthal. 73: 183-191, 1972."None>Goldberg et al. (1972)</a> described a family with 12 cases of retinal vascular tortuosity and/or retinal hemorrhage in 5 sibships, including 3 instances of father-to-son transmission. One of the 12 had retinal hemorrhage without tortuosity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5714765+13784464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Wells, C. G., Kalina, R. E. <strong>Progressive inherited retinal arteriolar tortuosity with spontaneous retinal hemorrhages.</strong> Ophthalmology 92: 1015-1021, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4047598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4047598</a>] [<a href="https://doi.org/10.1016/s0161-6420(85)33905-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4047598">Wells and Kalina (1985)</a> reported 3 families with autosomal dominant retinal arteriolar tortuosity and spontaneous retinal hemorrhages. All hemorrhages resolved with recovery of normal vision. Arteriolar tortuosity was often not present in children with hemorrhages but later became apparent during adolescence. Several members of 2 families showed either tortuosity alone or hemorrhages alone, and the authors noted that these findings may be independent manifestations. <a href="#8" class="mim-tip-reference" title="Wells, C. G., Kalina, R. E. <strong>Progressive inherited retinal arteriolar tortuosity with spontaneous retinal hemorrhages.</strong> Ophthalmology 92: 1015-1021, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4047598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4047598</a>] [<a href="https://doi.org/10.1016/s0161-6420(85)33905-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4047598">Wells and Kalina (1985)</a> concluded that the vascular anomaly is acquired and progressive rather than static and congenital, and that the disorder may be overlooked in children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4047598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Clearkin, L. G., Rose, H., Patterson, A., Mody, C. H. <strong>Development of retinal arteriolar tortuosity in previously unaffected family members.</strong> Trans. Ophthal. Soc. U.K. 105: 568-574, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3467507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3467507</a>]" pmid="3467507">Clearkin et al. (1986)</a> reported a family with retinal arteriolar tortuosity affecting 6 members over 3 generations. Three members developed tortuosity in late adolescence. Four members also had retinal hemorrhage, and 2 had tortuosity only. The proband suffered permanent visual impairment in one eye due to optic disc infarction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3467507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Sears, J., Gilman, J., Sternberg, P., Jr. <strong>Inherited retinal arteriolar tortuosity with retinal hemorrhages.</strong> Arch. Ophthal. 116: 1185-1188, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9747676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9747676</a>] [<a href="https://doi.org/10.1001/archopht.116.9.1185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9747676">Sears et al. (1998)</a> reported a family with typical features of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9747676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Zenteno, J. C., Crespi, J., Buentello-Volante, B., Buil, J. A., Bassaganyas, F., Vela-Segarra, J. I., Diaz-Cascajosa, J., Marieges, M. T. <strong>Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.</strong> Graefes Arch. Clin. Exp. Ophthal. 252: 1789-1794, 2014. Note: Erratum: Graefes Arch. Clin. Exp. Ophthal. 253: 1417 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25228067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25228067</a>] [<a href="https://doi.org/10.1007/s00417-014-2800-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25228067">Zenteno et al. (2014)</a> studied a Spanish father and 2 daughters with retinal arterial tortuosity. The 53-year-old father presented with photophobia, and examination revealed marked tortuosity of second- and third-order arterioles bilaterally as well as discrete hypopigmentation of the retinal pigment epithelium. The venous system appeared normal, and there was no evidence of previous retinal hemorrhage. The proband's 21-year-old daughter had an episode of exercise-related mild retinal hemorrhage at age 15 years, at which time retinal examination revealed increased tortuosity of second- and third-order arterioles, several round areas of perifoveal intraretinal hemorrhage on the right, and foveal hemorrhage on the left. The hemorrhage resolved spontaneously, but she experienced several recurrences over the next 5 years. The proband's 18-year-old daughter had an episode of exercise-related retinal hemorrhage at 13 years of age, at which time she was found to have increased tortuosity of retinal arterioles and bilateral intraretinal hemorrhage. The hemorrhage resolved spontaneously and she had no recurrences. None of the patients had any anterior segment anomalies, neurologic symptoms, or history of muscle cramps. Hemograms and urinalyses were normal in all 3 patients, as were glomerular filtration rates and creatine phosphokinase levels. Renal ultrasound showed no abnormalities of the kidneys; doppler echography did not detect any aortic or renal arterial abnormalities; and magnetic resonance angiography showed no evidence of leukoencephalopathy or structural anomalies, except for a small (3 mm) internal carotid artery aneurysm in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25228067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Spanish father and 2 daughters with tortuosity of the retinal arteries, <a href="#10" class="mim-tip-reference" title="Zenteno, J. C., Crespi, J., Buentello-Volante, B., Buil, J. A., Bassaganyas, F., Vela-Segarra, J. I., Diaz-Cascajosa, J., Marieges, M. T. <strong>Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.</strong> Graefes Arch. Clin. Exp. Ophthal. 252: 1789-1794, 2014. Note: Erratum: Graefes Arch. Clin. Exp. Ophthal. 253: 1417 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25228067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25228067</a>] [<a href="https://doi.org/10.1007/s00417-014-2800-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25228067">Zenteno et al. (2014)</a> performed whole-exome sequencing and identified heterozygosity for a missense mutation in the COL4A1 gene (G510R; <a href="/entry/120130#0013">120130.0013</a>). The mutation, which segregated with disease in the family, was not found in 200 ethnically matched control alleles or in 8,600 exomes in the NHLBI Exome Variant Server database. The G510R mutation was previously detected in heterozygosity in affected members of a French family who exhibited features of angiopathy associated with nephropathy, aneurysms, and muscle cramps (HANAC syndrome; <a href="/entry/611773">611773</a>) by <a href="#6" class="mim-tip-reference" title="Plaisier, E., Chen, Z., Gekeler, F., Benhassine, S., Dahan, K., Marro, B., Alamowitch, S., Paques, M., Ronco, P. <strong>Novel COL4A1 mutations associated with HANAC syndrome: a role for triple helical CB3(IV) domain.</strong> Am. J. Med. Genet. 152A: 2550-2555, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818663</a>] [<a href="https://doi.org/10.1002/ajmg.a.33659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20818663">Plaisier et al. (2010)</a>.. <a href="#10" class="mim-tip-reference" title="Zenteno, J. C., Crespi, J., Buentello-Volante, B., Buil, J. A., Bassaganyas, F., Vela-Segarra, J. I., Diaz-Cascajosa, J., Marieges, M. T. <strong>Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.</strong> Graefes Arch. Clin. Exp. Ophthal. 252: 1789-1794, 2014. Note: Erratum: Graefes Arch. Clin. Exp. Ophthal. 253: 1417 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25228067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25228067</a>] [<a href="https://doi.org/10.1007/s00417-014-2800-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25228067">Zenteno et al. (2014)</a> suggested that environmental factors and/or other genetic modifiers may influence the phenotypic expression and extent of organ involvement in COL4A1-related disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20818663+25228067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Beyer, E.
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<strong>Familiaere Tortuositas der kleinen Netzhautarterien mit Makulablutung (Familial tortuosity of the small retinal arteries with macular hemorrhage).</strong>
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Klin. Monatsbl. Augenheilkd. 132: 532-539, 1958.
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Cagianut, B., Werner, H.
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<strong>Zum Krankheitsbild der familiaeren Tortuositas der kleinen Netzhautarterien mit Makulablutung.</strong>
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Klin. Monatsbl. Augenheilkd. 153: 533-542, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5714765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5714765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5714765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Clearkin, L. G., Rose, H., Patterson, A., Mody, C. H.
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<strong>Development of retinal arteriolar tortuosity in previously unaffected family members.</strong>
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Trans. Ophthal. Soc. U.K. 105: 568-574, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3467507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3467507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3467507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Goldberg, M. F., Pollack, I. P., Green, W. R.
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<strong>Familial retinal arteriolar tortuosity with retinal hemorrhage.</strong>
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Am. J. Ophthal. 73: 183-191, 1972.
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Nischler, C., Egger, S. F., Reitsamer, H. A.
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<strong>Retinal vessel analysis in familial retinal arteriolar tortuosity.</strong>
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Spektrum Augenheilkd 25: 8-12, 2011.
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Plaisier, E., Chen, Z., Gekeler, F., Benhassine, S., Dahan, K., Marro, B., Alamowitch, S., Paques, M., Ronco, P.
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<strong>Novel COL4A1 mutations associated with HANAC syndrome: a role for triple helical CB3(IV) domain.</strong>
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Am. J. Med. Genet. 152A: 2550-2555, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20818663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20818663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20818663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33659" target="_blank">Full Text</a>]
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Sears, J., Gilman, J., Sternberg, P., Jr.
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<strong>Inherited retinal arteriolar tortuosity with retinal hemorrhages.</strong>
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Arch. Ophthal. 116: 1185-1188, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9747676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9747676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9747676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.116.9.1185" target="_blank">Full Text</a>]
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Wells, C. G., Kalina, R. E.
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<strong>Progressive inherited retinal arteriolar tortuosity with spontaneous retinal hemorrhages.</strong>
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Ophthalmology 92: 1015-1021, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4047598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4047598</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4047598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0161-6420(85)33905-2" target="_blank">Full Text</a>]
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Werner, H., Gafner, F.
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<strong>Beitrag zur familiaeren Tortuositas der kleinen Netzhautarterien.</strong>
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Ophthalmologica 141: 350-356, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13784464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13784464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13784464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000304078" target="_blank">Full Text</a>]
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Zenteno, J. C., Crespi, J., Buentello-Volante, B., Buil, J. A., Bassaganyas, F., Vela-Segarra, J. I., Diaz-Cascajosa, J., Marieges, M. T.
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<strong>Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.</strong>
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Graefes Arch. Clin. Exp. Ophthal. 252: 1789-1794, 2014. Note: Erratum: Graefes Arch. Clin. Exp. Ophthal. 253: 1417 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25228067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25228067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25228067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00417-014-2800-6" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 4/27/2015
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Cassandra L. Kniffin - updated : 3/5/2003
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 11/06/2015
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carol : 4/30/2015<br>mcolton : 4/27/2015<br>carol : 9/10/2012<br>joanna : 9/7/2012<br>carol : 3/17/2003<br>tkritzer : 3/14/2003<br>ckniffin : 3/5/2003<br>mimadm : 3/25/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>reenie : 2/9/1987
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<strong>#</strong> 180000
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RETINAL ARTERIES, TORTUOSITY OF; RATOR
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RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY
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<strong>SNOMEDCT:</strong> 247123003;
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<strong>ORPHA:</strong> 75326;
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<strong>DO:</strong> 0111547;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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13q34
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<span class="mim-font">
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?Retinal arteries, tortuosity of
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180000
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Autosomal dominant
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<span class="mim-font">
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3
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COL4A1
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<span class="mim-font">
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120130
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<p>A number sign (#) is used with this entry because of evidence that retinal arterial tortuosity (RATOR) is caused by heterozygous mutation in the COL4A1 gene (120130) on chromosome 13q34. One such family has been reported.</p>
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<strong>Description</strong>
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<p>Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011).</p>
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<strong>Clinical Features</strong>
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<p>Beyer (1958) described tortuous retinal arteries with foveal hemorrhage in a 43-year-old man and his 17-year-old son. A 12-year-old son showed early changes. Polycythemia was present in the 17-year-old. Werner and Gafner (1961) described tortuous arteries in a 47-year-old man and his son and 2 daughters. Cagianut and Werner (1968) observed 4 persons in 1 family with retinal arteriolar tortuosity and recurrent hemorrhages. Goldberg et al. (1972) described a family with 12 cases of retinal vascular tortuosity and/or retinal hemorrhage in 5 sibships, including 3 instances of father-to-son transmission. One of the 12 had retinal hemorrhage without tortuosity. </p><p>Wells and Kalina (1985) reported 3 families with autosomal dominant retinal arteriolar tortuosity and spontaneous retinal hemorrhages. All hemorrhages resolved with recovery of normal vision. Arteriolar tortuosity was often not present in children with hemorrhages but later became apparent during adolescence. Several members of 2 families showed either tortuosity alone or hemorrhages alone, and the authors noted that these findings may be independent manifestations. Wells and Kalina (1985) concluded that the vascular anomaly is acquired and progressive rather than static and congenital, and that the disorder may be overlooked in children. </p><p>Clearkin et al. (1986) reported a family with retinal arteriolar tortuosity affecting 6 members over 3 generations. Three members developed tortuosity in late adolescence. Four members also had retinal hemorrhage, and 2 had tortuosity only. The proband suffered permanent visual impairment in one eye due to optic disc infarction. </p><p>Sears et al. (1998) reported a family with typical features of the disorder. </p><p>Zenteno et al. (2014) studied a Spanish father and 2 daughters with retinal arterial tortuosity. The 53-year-old father presented with photophobia, and examination revealed marked tortuosity of second- and third-order arterioles bilaterally as well as discrete hypopigmentation of the retinal pigment epithelium. The venous system appeared normal, and there was no evidence of previous retinal hemorrhage. The proband's 21-year-old daughter had an episode of exercise-related mild retinal hemorrhage at age 15 years, at which time retinal examination revealed increased tortuosity of second- and third-order arterioles, several round areas of perifoveal intraretinal hemorrhage on the right, and foveal hemorrhage on the left. The hemorrhage resolved spontaneously, but she experienced several recurrences over the next 5 years. The proband's 18-year-old daughter had an episode of exercise-related retinal hemorrhage at 13 years of age, at which time she was found to have increased tortuosity of retinal arterioles and bilateral intraretinal hemorrhage. The hemorrhage resolved spontaneously and she had no recurrences. None of the patients had any anterior segment anomalies, neurologic symptoms, or history of muscle cramps. Hemograms and urinalyses were normal in all 3 patients, as were glomerular filtration rates and creatine phosphokinase levels. Renal ultrasound showed no abnormalities of the kidneys; doppler echography did not detect any aortic or renal arterial abnormalities; and magnetic resonance angiography showed no evidence of leukoencephalopathy or structural anomalies, except for a small (3 mm) internal carotid artery aneurysm in the father. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</div>
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<span class="mim-text-font">
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<p>Goldberg et al. (1972) suggested autosomal dominant inheritance of retinal arterial tortuosity based on reports of male-to-male transmission and occurrence in parents and their children in the absence of consanguinity.</p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a Spanish father and 2 daughters with tortuosity of the retinal arteries, Zenteno et al. (2014) performed whole-exome sequencing and identified heterozygosity for a missense mutation in the COL4A1 gene (G510R; 120130.0013). The mutation, which segregated with disease in the family, was not found in 200 ethnically matched control alleles or in 8,600 exomes in the NHLBI Exome Variant Server database. The G510R mutation was previously detected in heterozygosity in affected members of a French family who exhibited features of angiopathy associated with nephropathy, aneurysms, and muscle cramps (HANAC syndrome; 611773) by Plaisier et al. (2010).. Zenteno et al. (2014) suggested that environmental factors and/or other genetic modifiers may influence the phenotypic expression and extent of organ involvement in COL4A1-related disease. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Beyer, E.
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<strong>Familiaere Tortuositas der kleinen Netzhautarterien mit Makulablutung (Familial tortuosity of the small retinal arteries with macular hemorrhage).</strong>
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Klin. Monatsbl. Augenheilkd. 132: 532-539, 1958.
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<p class="mim-text-font">
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Cagianut, B., Werner, H.
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<strong>Zum Krankheitsbild der familiaeren Tortuositas der kleinen Netzhautarterien mit Makulablutung.</strong>
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Klin. Monatsbl. Augenheilkd. 153: 533-542, 1968.
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[PubMed: 5714765]
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<li>
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<p class="mim-text-font">
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Clearkin, L. G., Rose, H., Patterson, A., Mody, C. H.
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<strong>Development of retinal arteriolar tortuosity in previously unaffected family members.</strong>
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Trans. Ophthal. Soc. U.K. 105: 568-574, 1986.
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[PubMed: 3467507]
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<li>
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<p class="mim-text-font">
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Goldberg, M. F., Pollack, I. P., Green, W. R.
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<strong>Familial retinal arteriolar tortuosity with retinal hemorrhage.</strong>
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Am. J. Ophthal. 73: 183-191, 1972.
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</p>
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<li>
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<p class="mim-text-font">
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Nischler, C., Egger, S. F., Reitsamer, H. A.
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<strong>Retinal vessel analysis in familial retinal arteriolar tortuosity.</strong>
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Spektrum Augenheilkd 25: 8-12, 2011.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Plaisier, E., Chen, Z., Gekeler, F., Benhassine, S., Dahan, K., Marro, B., Alamowitch, S., Paques, M., Ronco, P.
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<strong>Novel COL4A1 mutations associated with HANAC syndrome: a role for triple helical CB3(IV) domain.</strong>
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Am. J. Med. Genet. 152A: 2550-2555, 2010.
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[PubMed: 20818663]
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[Full Text: https://doi.org/10.1002/ajmg.a.33659]
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<li>
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<p class="mim-text-font">
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Sears, J., Gilman, J., Sternberg, P., Jr.
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<strong>Inherited retinal arteriolar tortuosity with retinal hemorrhages.</strong>
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Arch. Ophthal. 116: 1185-1188, 1998.
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[PubMed: 9747676]
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[Full Text: https://doi.org/10.1001/archopht.116.9.1185]
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</li>
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<li>
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<p class="mim-text-font">
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Wells, C. G., Kalina, R. E.
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<strong>Progressive inherited retinal arteriolar tortuosity with spontaneous retinal hemorrhages.</strong>
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Ophthalmology 92: 1015-1021, 1985.
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[PubMed: 4047598]
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[Full Text: https://doi.org/10.1016/s0161-6420(85)33905-2]
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</li>
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<li>
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<p class="mim-text-font">
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Werner, H., Gafner, F.
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<strong>Beitrag zur familiaeren Tortuositas der kleinen Netzhautarterien.</strong>
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Ophthalmologica 141: 350-356, 1961.
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[PubMed: 13784464]
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[Full Text: https://doi.org/10.1159/000304078]
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<li>
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<p class="mim-text-font">
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Zenteno, J. C., Crespi, J., Buentello-Volante, B., Buil, J. A., Bassaganyas, F., Vela-Segarra, J. I., Diaz-Cascajosa, J., Marieges, M. T.
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<strong>Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.</strong>
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Graefes Arch. Clin. Exp. Ophthal. 252: 1789-1794, 2014. Note: Erratum: Graefes Arch. Clin. Exp. Ophthal. 253: 1417 only, 2015.
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[PubMed: 25228067]
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[Full Text: https://doi.org/10.1007/s00417-014-2800-6]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/27/2015<br>Cassandra L. Kniffin - updated : 3/5/2003
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</span>
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</div>
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<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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<div>
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