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<meta name="keywords" content="C0730294, cape dystrophy, caped, central areolar pigment epithelial dystrophy, central retinal pigment epithelial dystrophy, disease or syndrome, foveal dystrophy progressive, foveal dystrophy, progressive, foveal dystrophy, progressive, formerly, loc111365204, macular dystrophy 1, north carolina type, macular dystrophy retinal 1 north carolina type, macular dystrophy, retinal, 1, macular dystrophy, retinal, 1, north carolina type, mcdr1, ncmd, north carolina macular dystrophy, north carolina macular dystrophy, retinal 1, progressive foveal dystrophy, retinal macular dystrophy-1, retinal pigment epithelial dystrophy central, retinal pigment epithelial dystrophy, central, 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="North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant trait that appears to be completely penetrant. It is generally nonprogressive. The ophthalmoscopic findings are highly variable and are always much more dramatic than one would predict from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median, 20/60). Patients may have only a few drusen in the central macular region (grade I), confluent drusen confined to the central macular region (grade II), or a severe macular coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular region. Choroidal neovascular membranes develop in some patients. Color vision is normal. Electrophysiologic studies are also normal (summary by Small, 1998). Genetic Heterogeneity of Retinal Macular Dystrophy MCDR2 (608051) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. MCDR3 (608850) is caused by a duplication on chromosome 5p15. MCDR4 (619977) is caused by mutation in the CLEC3B gene (187520) on chromosome 3p21. MCDR5 (see 613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. See MAPPING for possible additional loci for MCDR." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=147590
|
||
ConceptID=C0730294
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">North Carolina macular dystrophy<span class="h1sub">(MCDR1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>147590</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:">C0730294</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Central areolar pigment epithelial dystrophy; Foveal dystrophy progressive; Macular dystrophy retinal 1 North Carolina type; MCDR1; Retinal pigment epithelial dystrophy central</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>North Carolina macular dystrophy (312925009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="LOC111365204 - ID: 111365204 - NCBI Gene" href="/gene/111365204" class="medgenPMinfo">LOC111365204</a> (6q16.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007630" target="_blank">MONDO:0007630</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/136550" target="_blank">136550</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75327">ORPHA75327</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">
|
||
<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">North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant trait that appears to be completely penetrant. It is generally nonprogressive. The ophthalmoscopic findings are highly variable and are always much more dramatic than one would predict from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median, 20/60). Patients may have only a few drusen in the central macular region (grade I), confluent drusen confined to the central macular region (grade II), or a severe macular coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular region. Choroidal neovascular membranes develop in some patients. Color vision is normal. Electrophysiologic studies are also normal (summary by Small, 1998). Genetic Heterogeneity of Retinal Macular Dystrophy MCDR2 (608051) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. MCDR3 (608850) is caused by a duplication on chromosome 5p15. MCDR4 (619977) is caused by mutation in the CLEC3B gene (187520) on chromosome 3p21. MCDR5 (see 613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. See MAPPING for possible additional loci for MCDR. [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_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_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196451"><div><strong>Macular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196451</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.">C0730292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196451">Feature record</a> | <a href="/medgen?term=%22Macular%20dystrophy%22%5BClinical%20Features%5D%20OR%20196451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163559"><div><strong>Dyschromatopsia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163559</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.">C0858618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163559">Feature record</a> | <a href="/medgen?term=%22Dyschromatopsia%22%5BClinical%20Features%5D%20OR%20163559%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488956"><div><strong>Drusen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488956</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.">C1260959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488956">Feature record</a> | <a href="/medgen?term=%22Drusen%22%5BClinical%20Features%5D%20OR%20488956%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_765930"><div><strong>Peripheral retinal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765930</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.">C3553016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765930">Feature record</a> | <a href="/medgen?term=%22Peripheral%20retinal%20atrophy%22%5BClinical%20Features%5D%20OR%20765930%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892991"><div><strong>Abnormality of macular pigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892991</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.">C4024756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality of macular or foveal pigmentation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892991">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20macular%20pigmentation%22%5BClinical%20Features%5D%20OR%20892991%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of macular pigmentation</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_488956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drusen</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyschromatopsia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_765930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral retinal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0730294[DISCUI]&test_type=Clinical" ref="ncbi_uid=147590">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=147590" target="_blank" href="/omim/136550">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=147590" ref="ncbi_uid=147590">V</a></span></span><span class="TLline">North Carolina macular dystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208903" ref="tree=MeSH" title="MedGen record for Retinal dystrophy">Retinal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1636841" ref="tree=MeSH" title="MedGen record for Genetic Macular Dystrophy">Genetic Macular Dystrophy</a></span><ul><li><span class="matched_ds">North Carolina macular dystrophy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11072&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">North Carolina macular dystrophy</span> in Orphanet.</div></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/39820891">Differential Diagnosis of Age-Related Macular Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charbel Issa P,
|
||
De Silva SR,
|
||
Pfau K,
|
||
Birtel J</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2025 Jan;242(1):7-21.
|
||
Epub 2025 Jan 16
|
||
doi: 10.1055/a-2327-8597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39820891" target="_blank">39820891</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22north%20carolina%20macular%20dystrophy%22%5Btiab%3A~0%5D)%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 (1)</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/35151913">North Carolina Macular Dystrophy: Long-term Follow-up of the Original Family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
Wiggins R,
|
||
Udar N,
|
||
Silva-Garcia R,
|
||
Avetisjan J,
|
||
Vincent A,
|
||
Shaya FS</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jun;6(6):512-519.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1016/j.oret.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35151913" target="_blank">35151913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33785507">North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
Gliem M,
|
||
Herrmann P,
|
||
Neuhaus C,
|
||
Holz FG,
|
||
MacLaren RE,
|
||
Scholl HPN,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2022 Sep;106(9):1269-1273.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1136/bjophthalmol-2021-318815.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33785507" target="_blank">33785507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27496188">Genetic linkage studies of a North Carolina macular dystrophy family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Audere M,
|
||
Rutka K,
|
||
Inaskina I,
|
||
Peculis R,
|
||
Sepetiene S,
|
||
Valeina S,
|
||
Lāce B</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2016;52(3):180-6.
|
||
Epub 2016 Apr 19
|
||
doi: 10.1016/j.medici.2016.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27496188" target="_blank">27496188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23681481">Intrachoroidal cavitation in North Carolina macular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schoenberger SD,
|
||
Agarwal A</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2013 Aug;131(8):1073-6.
|
||
doi: 10.1001/jamaophthalmol.2013.1598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23681481" target="_blank">23681481</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8015785">North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
Weber J,
|
||
Roses A,
|
||
Pericak-Vance P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Paediatr Genet</span>
|
||
1993 Dec;14(4):143-50.
|
||
doi: 10.3109/13816819309042913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8015785" target="_blank">8015785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22North%20Carolina%20macular%20dystrophy%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 (19)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39820891">Differential Diagnosis of Age-Related Macular Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charbel Issa P,
|
||
De Silva SR,
|
||
Pfau K,
|
||
Birtel J</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2025 Jan;242(1):7-21.
|
||
Epub 2025 Jan 16
|
||
doi: 10.1055/a-2327-8597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39820891" target="_blank">39820891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33785507">North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
Gliem M,
|
||
Herrmann P,
|
||
Neuhaus C,
|
||
Holz FG,
|
||
MacLaren RE,
|
||
Scholl HPN,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2022 Sep;106(9):1269-1273.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1136/bjophthalmol-2021-318815.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33785507" target="_blank">33785507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34125159">North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green DJ,
|
||
Lenassi E,
|
||
Manning CS,
|
||
McGaughey D,
|
||
Sharma V,
|
||
Black GC,
|
||
Ellingford JM,
|
||
Sergouniotis PI</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2021 Jun 1;62(7):16.
|
||
doi: 10.1167/iovs.62.7.16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34125159" target="_blank">34125159</a><a href="/pmc/articles/PMC8212441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29098804">Fundus autofluorescence imaging in hereditary retinal diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichi F,
|
||
Abboud EB,
|
||
Ghazi NG,
|
||
Khan AO</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2018 Aug;96(5):e549-e561.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1111/aos.13602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29098804" target="_blank">29098804</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23681481">Intrachoroidal cavitation in North Carolina macular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schoenberger SD,
|
||
Agarwal A</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2013 Aug;131(8):1073-6.
|
||
doi: 10.1001/jamaophthalmol.2013.1598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23681481" target="_blank">23681481</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22North%20Carolina%20macular%20dystrophy%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 (30)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30383557">CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakall B,
|
||
Bryan JS 3rd,
|
||
Stone EM,
|
||
Small KW</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2021 Sep 1;15(5):509-513.
|
||
doi: 10.1097/ICB.0000000000000838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30383557" target="_blank">30383557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31779462">Ranibizumab for the treatment of choroidal neovascularization due to cause other than age related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stepanov A,
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Středová M,
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Dusová J,
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Jirásková N,
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Studnička J</span><br />
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<span class="medgenPMjournal">Cesk Slov Oftalmol</span>
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2019 Summer;75(3):138-144.
|
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doi: 10.31348/2019/3/4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31779462" target="_blank">31779462</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22North%20Carolina%20macular%20dystrophy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39820891">Differential Diagnosis of Age-Related Macular Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charbel Issa P,
|
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De Silva SR,
|
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Pfau K,
|
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Birtel J</span><br />
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<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
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||
2025 Jan;242(1):7-21.
|
||
Epub 2025 Jan 16
|
||
doi: 10.1055/a-2327-8597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39820891" target="_blank">39820891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35151913">North Carolina Macular Dystrophy: Long-term Follow-up of the Original Family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
Wiggins R,
|
||
Udar N,
|
||
Silva-Garcia R,
|
||
Avetisjan J,
|
||
Vincent A,
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||
Shaya FS</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jun;6(6):512-519.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1016/j.oret.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35151913" target="_blank">35151913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34158671">Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nekolova J,
|
||
Stepanov A,
|
||
Kousal B,
|
||
Stredova M,
|
||
Jiraskova N</span><br />
|
||
<span class="medgenPMjournal">Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub</span>
|
||
2022 Dec;166(4):418-427.
|
||
Epub 2021 Jun 22
|
||
doi: 10.5507/bp.2021.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34158671" target="_blank">34158671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33785507">North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
Gliem M,
|
||
Herrmann P,
|
||
Neuhaus C,
|
||
Holz FG,
|
||
MacLaren RE,
|
||
Scholl HPN,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2022 Sep;106(9):1269-1273.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1136/bjophthalmol-2021-318815.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33785507" target="_blank">33785507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34125159">North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green DJ,
|
||
Lenassi E,
|
||
Manning CS,
|
||
McGaughey D,
|
||
Sharma V,
|
||
Black GC,
|
||
Ellingford JM,
|
||
Sergouniotis PI</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2021 Jun 1;62(7):16.
|
||
doi: 10.1167/iovs.62.7.16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34125159" target="_blank">34125159</a><a href="/pmc/articles/PMC8212441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22North%20Carolina%20macular%20dystrophy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34125159">North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green DJ,
|
||
Lenassi E,
|
||
Manning CS,
|
||
McGaughey D,
|
||
Sharma V,
|
||
Black GC,
|
||
Ellingford JM,
|
||
Sergouniotis PI</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2021 Jun 1;62(7):16.
|
||
doi: 10.1167/iovs.62.7.16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34125159" target="_blank">34125159</a><a href="/pmc/articles/PMC8212441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26507665">North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
DeLuca AP,
|
||
Whitmore SS,
|
||
Rosenberg T,
|
||
Silva-Garcia R,
|
||
Udar N,
|
||
Puech B,
|
||
Garcia CA,
|
||
Rice TA,
|
||
Fishman GA,
|
||
Héon E,
|
||
Folk JC,
|
||
Streb LM,
|
||
Haas CM,
|
||
Wiley LA,
|
||
Scheetz TE,
|
||
Fingert JH,
|
||
Mullins RF,
|
||
Tucker BA,
|
||
Stone EM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2016 Jan;123(1):9-18.
|
||
Epub 2015 Oct 24
|
||
doi: 10.1016/j.ophtha.2015.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26507665" target="_blank">26507665</a><a href="/pmc/articles/PMC4695238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10617775">North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
Udar N,
|
||
Yelchits S,
|
||
Klein R,
|
||
Garcia C,
|
||
Gallardo G,
|
||
Puech B,
|
||
Puech V,
|
||
Saperstein D,
|
||
Lim J,
|
||
Haller J,
|
||
Flaxel C,
|
||
Kelsell R,
|
||
Hunt D,
|
||
Evans K,
|
||
Lennon F,
|
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Pericak-Vance M</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
1999 Dec 29;5:38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10617775" target="_blank">10617775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9801042">North Carolina macular dystrophy (MCDR1) in Texas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
Garcia CA,
|
||
Gallardo G,
|
||
Udar N,
|
||
Yelchits S</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
1998;18(5):448-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9801042" target="_blank">9801042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8015785">North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
Weber J,
|
||
Roses A,
|
||
Pericak-Vance P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Paediatr Genet</span>
|
||
1993 Dec;14(4):143-50.
|
||
doi: 10.3109/13816819309042913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8015785" target="_blank">8015785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22North%20Carolina%20macular%20dystrophy%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 (23)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
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|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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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><li><a href="/gtr/tests?term=C0730294%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0730294%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0730294%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0730294%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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</ul></div>
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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=136550" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=75327" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=North%20Carolina%20macular%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(%22north%20carolina%20macular%20dystrophy%22%5Btiab%3A~0%5D)%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></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616842" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=111365204[geneid]" target="_blank">View LOC111365204 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=136550" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" 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.malacards.org/card/macular_dystrophy_retinal_1_north_carolina_type" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=North%20Carolina%20macular%20dystrophy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9179/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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</div>
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<div class="portlet_content">
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<ul>
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||
<li>
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||
<a href="/pubmed/clinical?term=North%20Carolina%20macular%20dystrophy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=North%20Carolina%20macular%20dystrophy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
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||
</div>
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|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
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||
</div>
|
||
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||
</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=147590" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=147590" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
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