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<meta name="keywords" content="C0154832, coat disease, coats disease, coats syndrome, coats' disease, coats' syndrome, congenital retinal telangiectasia, disease or syndrome, exudative retinopathy, leber miliary aneurysm, leber's miliary aneurysms, miliary aneurysms of retina, retinal telangiectases, retinal telangiectasis, telangiectases, retinal, telangiectasis, retinal, 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="Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Exudative retinopathy (Concept Id: C0154832)
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<!--
UID=102319
ConceptID=C0154832
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exudative retinopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102319</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)&#10;Click for more information.">C0154832</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>Coats disease; RETINAL TELANGIECTASIS</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Coats syndrome (360455002); Exudative retinopathy (25506007); Coats' disease (360455002); Miliary aneurysms of retina (360455002); Leber's miliary aneurysms (360455002)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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:0007898">HP:0007898</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010269" target="_blank">MONDO:0010269</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/300216" target="_blank">300216</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&amp;Expert=190">ORPHA190</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">Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</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_57540"><div><strong>Leukocoria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57540</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)&#10;Click for more information.">C0152458</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal white reflection from the pupil rather than the usual black reflection.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57540">Feature record</a> | <a href="/medgen?term=%22Leukocoria%22%5BClinical%20Features%5D%20OR%2057540%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57823"><div><strong>Exudative retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57823</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)&#10;Click for more information.">C0154822</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57823">Feature record</a> | <a href="/medgen?term=%22Exudative%20retinal%20detachment%22%5BClinical%20Features%5D%20OR%2057823%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57598"><div><strong>Retinal telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57598</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)&#10;Click for more information.">C0154835</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dilatation of small blood vessels of the retina.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57598">Feature record</a> | <a href="/medgen?term=%22Retinal%20telangiectasia%22%5BClinical%20Features%5D%20OR%2057598%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_57823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exudative retinal detachment</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukocoria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal telangiectasia</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=C0154832[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=102319">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=102319" target="_blank" href="/omim/300216">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&amp;from_uid=102319" ref="ncbi_uid=102319">V</a></span></span><span class="TLline">Exudative retinopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842273" ref="tree=MeSH" title="MedGen record for Genetic central nervous system and retinal vascular disease">Genetic central nervous system and retinal vascular disease</a></span><ul><li><span class="matched_ds">Exudative retinopathy</span></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&amp;data_id=156&amp;PatId=1645&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Exudative retinopathy</span> in Orphanet.</div></div></div>
</div>
<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_98480"><div><strong>Osteoporosis with pseudoglioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98480</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)&#10;Click for more information.">C0432252</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder characterized by severe osteoporosis and visual disturbance from childhood. Juvenile onset of osteoporosis manifests as long-bone fractures, vertebral compression fractures, kyphoscoliosis, deformity of extremities, and short stature. Congenital or early-onset visual disturbances arise from ophthalmologic problems including retinal detachment and microphthalmia (summary by Narumi et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98480">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_231230"><div><strong>Revesz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231230</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)&#10;Click for more information.">C1327916</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/231230">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</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)&#10;Click for more information.">C3151445</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462795">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1636142"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636142</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)&#10;Click for more information.">C4552029</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1636142">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1847761"><div><strong>Polydactyly-macrocephaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847761</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)&#10;Click for more information.">C5882754</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Polydactyly-macrocephaly syndrome (PDMCS) is characterized by postaxial polydactyly and progressive macrocephaly. Variable ocular anomalies have been observed, including microphthalmia and coloboma as well as delayed visual maturation. Neurodevelopmental anomalies are also present, including global developmental delay and autism or autistic traits, with prominent perivascular spaces on brain imaging (Harris et al., 2024).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1847761">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebroretinal microangiopathy with calcifications and cysts 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis with pseudoglioma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polydactyly-macrocephaly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Revesz syndrome</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/26215877">Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular &amp; Electrodiagnostic Medicine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tawil R,
Kissel JT,
Heatwole C,
Pandya S,
Gronseth G,
Benatar M;
Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology;
Practice Issues Review Panel of the American Association of Neuromuscular &amp; Electrodiagnostic Medicine</span><br />
<span class="medgenPMjournal">Neurology</span>
2015 Jul 28;85(4):357-64.
doi: 10.1212/WNL.0000000000001783.
<span class="bold">PMID: </span><a href="/pubmed/26215877" target="_blank">26215877</a><a href="/pmc/articles/PMC4520817" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21958172">Relapsing polychondritis: systemic and ocular manifestations, differential diagnosis, management, and prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoo JH,
Chodosh J,
Dana R</span><br />
<span class="medgenPMjournal">Semin Ophthalmol</span>
2011 Jul-Sep;26(4-5):261-9.
doi: 10.3109/08820538.2011.588653.
<span class="bold">PMID: </span><a href="/pubmed/21958172" target="_blank">21958172</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22exudative%20retinopathy%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 (2)</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/35922148">EN BLOC RESECTION OF RETINAL VASOPROLIFERATIVE TUMOR USING 23G VITRECTOMY. A CASE REPORT.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Forgáč F,
Sekerešová M,
Černák M</span><br />
<span class="medgenPMjournal">Cesk Slov Oftalmol</span>
2022 Summer;78(4):206-213.
doi: 10.31348/2022/22.
<span class="bold">PMID: </span><a href="/pubmed/35922148" target="_blank">35922148</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29380183">Intravitreal dexamethasone implant with retinal photocoagulation for adult-onset Coats' disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar K,
Raj P,
Chandnani N,
Agarwal A</span><br />
<span class="medgenPMjournal">Int Ophthalmol</span>
2019 Feb;39(2):465-470.
Epub 2018 Jan 29
doi: 10.1007/s10792-018-0827-0.
<span class="bold">PMID: </span><a href="/pubmed/29380183" target="_blank">29380183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23871396">A case of CRB1-negative Coats-like retinitis pigmentosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sarao V,
Veritti D,
Prosperi R,
Pignatto S,
Lanzetta P</span><br />
<span class="medgenPMjournal">J AAPOS</span>
2013 Aug;17(4):414-6.
Epub 2013 Jul 18
doi: 10.1016/j.jaapos.2013.02.010.
<span class="bold">PMID: </span><a href="/pubmed/23871396" target="_blank">23871396</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15624672">Polypoidal choroidal vasculopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCleary CD,
Guier CP,
Dunbar MT</span><br />
<span class="medgenPMjournal">Optometry</span>
2004 Dec;75(12):756-70.
doi: 10.1016/s1529-1839(04)70235-3.
<span class="bold">PMID: </span><a href="/pubmed/15624672" target="_blank">15624672</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9571668">Exudative retinal detachment in X-linked retinoschisis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fong DS,
Frederick AR Jr,
Blumenkranz MS,
Walton DS</span><br />
<span class="medgenPMjournal">Ophthalmic Surg Lasers</span>
1998 Apr;29(4):332-5.
<span class="bold">PMID: </span><a href="/pubmed/9571668" target="_blank">9571668</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20retinopathy%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/35286046">Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoşnut FÖ,
Şahin G,
Akçaboy M</span><br />
<span class="medgenPMjournal">Turk J Pediatr</span>
2022;64(1):166-170.
doi: 10.24953/turkjped.2020.3315.
<span class="bold">PMID: </span><a href="/pubmed/35286046" target="_blank">35286046</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24635161">Retinoschisis in the setting of Coats' disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yannuzzi NA,
Tzu JH,
Hess DJ,
Berrocal AM</span><br />
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
2014 Mar-Apr;45(2):172-4.
doi: 10.3928/23258160-20140306-13.
<span class="bold">PMID: </span><a href="/pubmed/24635161" target="_blank">24635161</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21139479">Coats disease and exudative retinopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reichstein DA,
Recchia FM</span><br />
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
2011 Winter;51(1):93-112.
doi: 10.1097/IIO.0b013e318200de51.
<span class="bold">PMID: </span><a href="/pubmed/21139479" target="_blank">21139479</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17901676">Revesz syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Riyaz A,
Riyaz N,
Jayakrishnan MP,
Mohamed Shiras PT,
Ajith Kumar VT,
Ajith BS</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2007 Sep;74(9):862-3.
doi: 10.1007/s12098-007-0155-2.
<span class="bold">PMID: </span><a href="/pubmed/17901676" target="_blank">17901676</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9571668">Exudative retinal detachment in X-linked retinoschisis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fong DS,
Frederick AR Jr,
Blumenkranz MS,
Walton DS</span><br />
<span class="medgenPMjournal">Ophthalmic Surg Lasers</span>
1998 Apr;29(4):332-5.
<span class="bold">PMID: </span><a href="/pubmed/9571668" target="_blank">9571668</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20retinopathy%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 (41)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35922148">EN BLOC RESECTION OF RETINAL VASOPROLIFERATIVE TUMOR USING 23G VITRECTOMY. A CASE REPORT.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Forgáč F,
Sekerešová M,
Černák M</span><br />
<span class="medgenPMjournal">Cesk Slov Oftalmol</span>
2022 Summer;78(4):206-213.
doi: 10.31348/2022/22.
<span class="bold">PMID: </span><a href="/pubmed/35922148" target="_blank">35922148</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35286046">Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoşnut FÖ,
Şahin G,
Akçaboy M</span><br />
<span class="medgenPMjournal">Turk J Pediatr</span>
2022;64(1):166-170.
doi: 10.24953/turkjped.2020.3315.
<span class="bold">PMID: </span><a href="/pubmed/35286046" target="_blank">35286046</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29380183">Intravitreal dexamethasone implant with retinal photocoagulation for adult-onset Coats' disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar K,
Raj P,
Chandnani N,
Agarwal A</span><br />
<span class="medgenPMjournal">Int Ophthalmol</span>
2019 Feb;39(2):465-470.
Epub 2018 Jan 29
doi: 10.1007/s10792-018-0827-0.
<span class="bold">PMID: </span><a href="/pubmed/29380183" target="_blank">29380183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28891484">Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tallapaka KB,
Ranganath P,
Dalal A</span><br />
<span class="medgenPMjournal">Indian Pediatr</span>
2017 Aug 15;54(8):681-683.
doi: 10.1007/s13312-017-1134-y.
<span class="bold">PMID: </span><a href="/pubmed/28891484" target="_blank">28891484</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24635161">Retinoschisis in the setting of Coats' disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yannuzzi NA,
Tzu JH,
Hess DJ,
Berrocal AM</span><br />
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
2014 Mar-Apr;45(2):172-4.
doi: 10.3928/23258160-20140306-13.
<span class="bold">PMID: </span><a href="/pubmed/24635161" target="_blank">24635161</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20retinopathy%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33097095">Revesz syndrome revisited.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Karremann M,
Neumaier-Probst E,
Schlichtenbrede F,
Beier F,
Brümmendorf TH,
Cremer FW,
Bader P,
Dürken M</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2020 Oct 23;15(1):299.
doi: 10.1186/s13023-020-01553-y.
<span class="bold">PMID: </span><a href="/pubmed/33097095" target="_blank">33097095</a><a href="/pmc/articles/PMC7583287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30459466">Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vineeth VS,
Das Bhowmik A,
Balakrishnan S,
Dalal A,
Aggarwal S</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2019 Feb;64(2):183-189.
Epub 2018 Nov 20
doi: 10.1038/s10038-018-0541-9.
<span class="bold">PMID: </span><a href="/pubmed/30459466" target="_blank">30459466</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29380183">Intravitreal dexamethasone implant with retinal photocoagulation for adult-onset Coats' disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar K,
Raj P,
Chandnani N,
Agarwal A</span><br />
<span class="medgenPMjournal">Int Ophthalmol</span>
2019 Feb;39(2):465-470.
Epub 2018 Jan 29
doi: 10.1007/s10792-018-0827-0.
<span class="bold">PMID: </span><a href="/pubmed/29380183" target="_blank">29380183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17901676">Revesz syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Riyaz A,
Riyaz N,
Jayakrishnan MP,
Mohamed Shiras PT,
Ajith Kumar VT,
Ajith BS</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2007 Sep;74(9):862-3.
doi: 10.1007/s12098-007-0155-2.
<span class="bold">PMID: </span><a href="/pubmed/17901676" target="_blank">17901676</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9571668">Exudative retinal detachment in X-linked retinoschisis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fong DS,
Frederick AR Jr,
Blumenkranz MS,
Walton DS</span><br />
<span class="medgenPMjournal">Ophthalmic Surg Lasers</span>
1998 Apr;29(4):332-5.
<span class="bold">PMID: </span><a href="/pubmed/9571668" target="_blank">9571668</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20retinopathy%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/28891484">Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tallapaka KB,
Ranganath P,
Dalal A</span><br />
<span class="medgenPMjournal">Indian Pediatr</span>
2017 Aug 15;54(8):681-683.
doi: 10.1007/s13312-017-1134-y.
<span class="bold">PMID: </span><a href="/pubmed/28891484" target="_blank">28891484</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28424147">Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fay AJ,
King AA,
Shimony JS,
Crow YJ,
Brunstrom-Hernandez JE</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2017 Jun;71:56-59.
Epub 2017 Mar 23
doi: 10.1016/j.pediatrneurol.2017.03.008.
<span class="bold">PMID: </span><a href="/pubmed/28424147" target="_blank">28424147</a><a href="/pmc/articles/PMC5949049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27685501">RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thanos A,
Todorich B,
Hypes SM,
Yonekawa Y,
Thomas B,
Randhawa S,
Drenser KA,
Trese MT</span><br />
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
2017 Winter;11 Suppl 1:S187-S190.
doi: 10.1097/ICB.0000000000000430.
<span class="bold">PMID: </span><a href="/pubmed/27685501" target="_blank">27685501</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25816546">Advanced exudative retinopathy with neovascular glaucoma as the clinical presentation of diabetes mellitus and severe combined hyperlipidemia: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sinawat S,
Thanapaisal S,
Sinawat S</span><br />
<span class="medgenPMjournal">J Med Assoc Thai</span>
2014 Oct;97 Suppl 10:S110-4.
<span class="bold">PMID: </span><a href="/pubmed/25816546" target="_blank">25816546</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6499636">Association of differing dietary, metabolic, and clinical risk factors with microvascular complications of diabetes: a prevalence study of 503 Mexican type II diabetic subjects. II.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Paisey RB,
Arredondo G,
Villalobos A,
Lozano O,
Guevara L,
Kelly S</span><br />
<span class="medgenPMjournal">Diabetes Care</span>
1984 Sep-Oct;7(5):428-33.
doi: 10.2337/diacare.7.5.428.
<span class="bold">PMID: </span><a href="/pubmed/6499636" target="_blank">6499636</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20retinopathy%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 (10)</a></div></div>
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