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<meta name="keywords" content="C0029128, disease or syndrome, drusen of optic disc, drusen of optic disk, drusen, optic disc, drusen, optic disk, drusen, optic nerve, hyaline bodies of optic disc, optic disc drusen, optic disc drusens, optic disk drusen, optic disk drusens, optic nerve drusen, optic nerve head drusen, 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="Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=14495
|
||
ConceptID=C0029128
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Optic disc drusen</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14495</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:">C0029128</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>Drusen, Optic Disc; Drusen, Optic Disk; Drusen, Optic Nerve; Optic Disc Drusen; Optic Disc Drusens; Optic Disk Drusen; Optic Disk Drusens; Optic Nerve Drusen</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyaline bodies of optic disc (33629003); Optic nerve head drusen (33629003); Optic disc drusen (33629003); Drusen of optic disc (33629003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012426">HP:0012426</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001746" target="_blank">MONDO:0001746</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_118">
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<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></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=C0029128[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=14495">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=14495" ref="ncbi_uid=14495">V</a></span></span><span class="TLline">Optic disc drusen</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><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/472883" ref="tree=MeSH" title="MedGen record for Abnormal optic nerve morphology">Abnormal optic nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1815046" ref="tree=MeSH" title="MedGen record for Abnormal optic disc morphology">Abnormal optic disc morphology</a></span><ul><li><span class="matched_ds">Optic disc drusen</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_698415"><div><strong>Autosomal recessive inherited pseudoxanthoma elasticum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>698415</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.">C1275116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/698415">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325486"><div><strong>Retinitis pigmentosa 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325486</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.">C1838702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325486">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410021"><div><strong>Isolated microphthalmia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410021</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.">C1970236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410021">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419026"><div><strong>Leber congenital amaurosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419026</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.">C2931258</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863285"><div><strong>Nanophthalmos 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863285</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.">C4014848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by Awadalla et al., 2014). For a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (600165).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863285">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897209"><div><strong>Retinitis pigmentosa 71</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897209</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.">C4225342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897209">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_698415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inherited pseudoxanthoma elasticum</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated microphthalmia 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nanophthalmos 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 71</a></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/38778137">Optic disc drusen: Dystrophic calcification, a potential target for treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bentin JM,
|
||
Heegaard S,
|
||
Jørgensen NR,
|
||
Grahnemo L,
|
||
Hamann S</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2024 Aug;38(12):2359-2364.
|
||
Epub 2024 May 22
|
||
doi: 10.1038/s41433-024-03138-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38778137" target="_blank">38778137</a><a href="/pmc/articles/PMC11306397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38748211">Evaluation and management of nonarteritic anterior ischemic optic neuropathy: a national survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bialer OY,
|
||
Stiebel-Kalish H</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2024 Oct;262(10):3323-3330.
|
||
Epub 2024 May 15
|
||
doi: 10.1007/s00417-024-06512-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38748211" target="_blank">38748211</a><a href="/pmc/articles/PMC11458737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32909979">Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibony PA,
|
||
Kupersmith MJ,
|
||
Kardon RH</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2021 Mar 1;41(1):77-92.
|
||
doi: 10.1097/WNO.0000000000001078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32909979" target="_blank">32909979</a><a href="/pmc/articles/PMC7882012" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22optic%20disc%20drusen%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 (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32417390">The Cause of Retinal and Choroidal Folds in Optic Disc Drusen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abazari A,
|
||
Sibony PA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2020 Nov;127(11):1583-1585.
|
||
Epub 2020 May 15
|
||
doi: 10.1016/j.ophtha.2020.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32417390" target="_blank">32417390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32383130">Optic disc drusen: a systematic review : Up-to-date and future perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allegrini D,
|
||
Pagano L,
|
||
Ferrara M,
|
||
Borgia A,
|
||
Sorrentino T,
|
||
Montesano G,
|
||
Angi M,
|
||
Romano MR</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2020 Aug;40(8):2119-2127.
|
||
Epub 2020 May 7
|
||
doi: 10.1007/s10792-020-01365-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32383130" target="_blank">32383130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30239364">A Review of Optic Disc Drusen in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rotruck J</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
2018 Fall;58(4):67-82.
|
||
doi: 10.1097/IIO.0000000000000236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30239364" target="_blank">30239364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27378455">Congenital optic nerve anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martín-Begué N,
|
||
Saint-Gerons M</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol</span>
|
||
2016 Dec;91(12):577-588.
|
||
Epub 2016 Jul 1
|
||
doi: 10.1016/j.oftal.2016.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27378455" target="_blank">27378455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24321156">Perspectives of an innovative ophthalmological technology: optical coherence tomography (OCT)--what should be of interest to the neurologist?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziemssen T,
|
||
Ziemssen F</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2013 Dec;115 Suppl 1:S55-9.
|
||
doi: 10.1016/j.clineuro.2013.09.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24321156" target="_blank">24321156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20drusen%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 (103)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36737346">Intrapapillary Hemorrhage and Optic Disc Drusen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatti MT,
|
||
Long JR</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2023 Apr;130(4):432.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1016/j.ophtha.2022.12.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36737346" target="_blank">36737346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33626173">MFRP-Related Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques JP</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2021 Feb 1;52(2):110.
|
||
doi: 10.3928/23258160-20210201-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33626173" target="_blank">33626173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30239364">A Review of Optic Disc Drusen in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rotruck J</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
2018 Fall;58(4):67-82.
|
||
doi: 10.1097/IIO.0000000000000236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30239364" target="_blank">30239364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27886892">Optical Coherence Tomography in Neuro-ophthalmology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costello F</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2017 Feb;35(1):153-163.
|
||
doi: 10.1016/j.ncl.2016.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27886892" target="_blank">27886892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12927436">Optic disc drusen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abeysiri P,
|
||
Sivaprasad S,
|
||
Trew D</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2003 Aug 9;362(9382):468.
|
||
doi: 10.1016/S0140-6736(03)14074-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12927436" target="_blank">12927436</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20drusen%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 (201)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35044276">Papilledema: A Review of the Pathophysiology, Imaging Findings, and Mimics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guarnizo A,
|
||
Albreiki D,
|
||
Cruz JP,
|
||
Létourneau-Guillon L,
|
||
Iancu D,
|
||
Torres C</span><br />
|
||
<span class="medgenPMjournal">Can Assoc Radiol J</span>
|
||
2022 Aug;73(3):557-567.
|
||
Epub 2022 Jan 19
|
||
doi: 10.1177/08465371211061660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35044276" target="_blank">35044276</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33880859">Branch retinal vein occlusion precipitated by compression between a major retinal artery and underlying optic disc drusen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothenbuehler SP,
|
||
Maloca PM,
|
||
Belmouhand M,
|
||
Hamann S,
|
||
Larsen M</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2021 Dec;99(8):931-933.
|
||
Epub 2021 Apr 20
|
||
doi: 10.1111/aos.14840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33880859" target="_blank">33880859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141977">Should Patients With Optic Disc Drusen Be Treated With Intraocular Pressure-Lowering Medications?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falardeau JM,
|
||
Pineles SL,
|
||
Van Stavern GP,
|
||
Lee AG</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2020 Dec;40(4):538-543.
|
||
doi: 10.1097/WNO.0000000000000929.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32141977" target="_blank">32141977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31289151">Optic disc drusen precipitating central retinal vein occlusion in young.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Padhy SK,
|
||
Behera UC</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Jul 8;12(7)
|
||
doi: 10.1136/bcr-2019-230677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31289151" target="_blank">31289151</a><a href="/pmc/articles/PMC6615809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27390837">β-Thalassemia and ocular implications: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liaska A,
|
||
Petrou P,
|
||
Georgakopoulos CD,
|
||
Diamanti R,
|
||
Papaconstantinou D,
|
||
Kanakis MG,
|
||
Georgalas I</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2016 Jul 8;16:102.
|
||
doi: 10.1186/s12886-016-0285-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27390837" target="_blank">27390837</a><a href="/pmc/articles/PMC4938965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20drusen%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36300762">Peripapillary hyperreflective ovoid mass-like structures: Multimodal imaging-A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
|
||
Chen FK</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2023 Jan;51(1):67-80.
|
||
Epub 2022 Nov 6
|
||
doi: 10.1111/ceo.14182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36300762" target="_blank">36300762</a><a href="/pmc/articles/PMC10099767" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33595608">Peripapillary Haloes Associated With Optic Disc Drusen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nichani P,
|
||
Micieli JA</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2021 Feb 1;139(2):e204083.
|
||
Epub 2021 Feb 17
|
||
doi: 10.1001/jamaophthalmol.2020.4083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33595608" target="_blank">33595608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32909979">Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibony PA,
|
||
Kupersmith MJ,
|
||
Kardon RH</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2021 Mar 1;41(1):77-92.
|
||
doi: 10.1097/WNO.0000000000001078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32909979" target="_blank">32909979</a><a href="/pmc/articles/PMC7882012" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32796285">Review of Cohort Studies: A Companion Article to Malmqvist et al "Progression Over 5 Years of Prelaminar Hyperreflective Lines to Optic Disc Drusen in the Copenhagen Child Cohort 2000 Eye Study".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tseng VL,
|
||
Chang MY</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2020 Sep;40(3):286-291.
|
||
doi: 10.1097/WNO.0000000000001034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32796285" target="_blank">32796285</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24321156">Perspectives of an innovative ophthalmological technology: optical coherence tomography (OCT)--what should be of interest to the neurologist?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziemssen T,
|
||
Ziemssen F</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2013 Dec;115 Suppl 1:S55-9.
|
||
doi: 10.1016/j.clineuro.2013.09.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24321156" target="_blank">24321156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20drusen%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 (52)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37068199">The Presence of Optic Disc Drusen in Eyes with Uveitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaya P,
|
||
Özdemir Yalçınsoy K,
|
||
Özdamar Erol Y</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2023 Oct;31(8):1700-1706.
|
||
Epub 2023 Apr 17
|
||
doi: 10.1080/09273948.2023.2193843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37068199" target="_blank">37068199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35916300">Optic Disc Drusen in Patients With Ocular Hypertension: A Case Series and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohli D,
|
||
Chen JJ,
|
||
Bhatti MT,
|
||
Moore-Weiss JM,
|
||
Roddy GW</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2022 Dec 1;42(4):470-475.
|
||
Epub 2022 Aug 2
|
||
doi: 10.1097/WNO.0000000000001647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35916300" target="_blank">35916300</a><a href="/pmc/articles/PMC9675708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35475858">Juxtapapillary Choroidal Neovascular Membrane as a Complication of Optic Disc Drusen: Multimodal Imaging With Swept Source-Optical Coherence Tomography and Optical Coherence Tomography Angiography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douglas VP,
|
||
Douglas KAA,
|
||
Miller JB,
|
||
Cestari DM</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2022 Mar 1;42(1):e430-e433.
|
||
Epub 2021 Jun 23
|
||
doi: 10.1097/WNO.0000000000001227.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35475858" target="_blank">35475858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33595608">Peripapillary Haloes Associated With Optic Disc Drusen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nichani P,
|
||
Micieli JA</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2021 Feb 1;139(2):e204083.
|
||
Epub 2021 Feb 17
|
||
doi: 10.1001/jamaophthalmol.2020.4083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33595608" target="_blank">33595608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28819712">Optical Coherence Tomography to Differentiate Papilledema from Pseudopapilledema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rebolleda G,
|
||
Kawasaki A,
|
||
de Juan V,
|
||
Oblanca N,
|
||
Muñoz-Negrete FJ</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2017 Aug 17;17(10):74.
|
||
doi: 10.1007/s11910-017-0790-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28819712" target="_blank">28819712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20drusen%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 (61)</a></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39488632">Association of optic disc drusen and small scleral canals - A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vienne-Jumeau A,
|
||
Bremond-Gignac D,
|
||
Robert MP</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2025 Feb;39(2):228-237.
|
||
Epub 2024 Nov 2
|
||
doi: 10.1038/s41433-024-03451-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39488632" target="_blank">39488632</a><a href="/pmc/articles/PMC11751152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37144704">Prevalence of optic disc drusen: A systematic review, meta-analysis and forecasting study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mukriyani H,
|
||
Malmqvist L,
|
||
Subhi Y,
|
||
Hamann S</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2024 Feb;102(1):15-24.
|
||
Epub 2023 May 5
|
||
doi: 10.1111/aos.15690.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37144704" target="_blank">37144704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32383130">Optic disc drusen: a systematic review : Up-to-date and future perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allegrini D,
|
||
Pagano L,
|
||
Ferrara M,
|
||
Borgia A,
|
||
Sorrentino T,
|
||
Montesano G,
|
||
Angi M,
|
||
Romano MR</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2020 Aug;40(8):2119-2127.
|
||
Epub 2020 May 7
|
||
doi: 10.1007/s10792-020-01365-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32383130" target="_blank">32383130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27390837">β-Thalassemia and ocular implications: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liaska A,
|
||
Petrou P,
|
||
Georgakopoulos CD,
|
||
Diamanti R,
|
||
Papaconstantinou D,
|
||
Kanakis MG,
|
||
Georgalas I</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2016 Jul 8;16:102.
|
||
doi: 10.1186/s12886-016-0285-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27390837" target="_blank">27390837</a><a href="/pmc/articles/PMC4938965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20drusen%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0029128%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0029128%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0029128%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Optic%20disc%20drusen" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22optic%20disc%20drusen%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Optic%20disc%20drusen%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0029128[DISCUI]" ref="log$=recordlinks">GTR</a>
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