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<meta name="keywords" content="C0003742, anterior embryotoxon, arcus corneae, arcus juvenilis, arcus lipoidis, arcus of cornea, arcus senilis, arcus, corneal, corneal annulus, corneal arcus, disease or syndrome, finding, gerontoxon, 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="A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=8179
|
||
ConceptID=C0003742
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Arcus senilis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8179</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.">C0003742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Arcus corneae; Corneal arcus</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Corneal arcus (231924000); Arcus senilis (111522004); Gerontoxon (111522004); Arcus of cornea (231924000)</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:0001084">HP:0001084</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007150" target="_blank">MONDO:0007150</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/107800" target="_blank">107800</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">A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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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>
|
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<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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=8179" target="_blank" href="/omim/107800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Arcus senilis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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/870894" ref="tree=MeSH" title="MedGen record for Abnormal anterior eye segment morphology">Abnormal anterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/383737" ref="tree=MeSH" title="MedGen record for Abnormal cornea morphology">Abnormal cornea morphology</a></span><ul><li><span class="TLline"><a href="/medgen/40485" ref="tree=MeSH" title="MedGen record for Corneal opacity">Corneal opacity</a></span><ul><li><span class="matched_ds">Arcus senilis</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">
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||
<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>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_9698"><div><strong>Norum disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9698</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.">C0023195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.\n\nIn complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.\n\nPeople with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.\n\nOther features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9698">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_152875"><div><strong>Hypercholesterolemia, familial, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152875</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.">C0745103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152875">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162904"><div><strong>Megalocornea-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162904</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.">C0796086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cardinal findings of Neuhauser syndrome, also known as MMR syndrome, are impaired intellectual development or developmental delay, megalocornea, hypotonia, prominent forehead, micrognathia, prominent nasal bridge, and thin upper lip or carp-like mouth (Naritomi et al., 1997). Reviews Gutierrez-Amavizca et al. (2013) reviewed published reports and tabulated the clinical features of 35 patients with Neuhauser syndrome. Primary megalocornea and psychomotor delay were present in all patients. Characteristics observed in more than half of patients included hypotonia, growth retardation, abnormal electroencephalography (EEG) and/or seizures, micro- or macrocephaly, brain malformations such as cerebral atrophy and hypoplastic corpus callosum, craniofacial dysmorphisms, cardiac anomalies, osteoarticular abnormalities, and refractive errors. Additional features found at low frequency included primary hypothyroidism, recurrent infections, feeding difficulties, cerebral hypomyelination, dyslipidemia, sensorineural deafness, laryngomalacia, large fleshy and cup-shaped ears, obesity, and cryptorchidism. The authors stated that the classification suggested by Verloes et al. (1993) did not seem to be applicable, and proposed that the diagnosis of Neuhauser syndrome should be made in the presence of intellectual disability and megalocornea in the absence of elevated intraocular pressure, with at least 1 minor feature from among those observed in more than half of patients.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162904">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_309962"><div><strong>Hypercholesterolemia, autosomal dominant, type B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>309962</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.">C1704417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/309962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326732"><div><strong>Hyperlipoproteinemia, type II, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326732</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.">C1840425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326732">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346616"><div><strong>Cornea plana 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346616</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.">C1857574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996). For discussion of genetic heterogeneity of CNA, see CNA1 (121400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346616">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355007"><div><strong>Hypercholesterolemia, autosomal dominant, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355007</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.">C1863551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400532"><div><strong>H syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400532</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.">C1864445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_440869"><div><strong>Sitosterolemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440869</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.">C2749759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462816"><div><strong>Hyperlipidemia due to hepatic triglyceride lipase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462816</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.">C3151466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by Hegele et al., 1991).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462816">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385311"><div><strong>Isolated congenital megalocornea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385311</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.">C4518341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1720006"><div><strong>ALDH18A1-related de Barsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720006</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.">C5234852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100. Genetic Heterogeneity of de Barsy Syndrome Also see ARCL3B (614438), caused by mutation in the PYCR1 gene (179035) on chromosome 17q25.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720006">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1789263"><div><strong>Hypoalphalipoproteinemia, primary, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1789263</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.">C5551172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary hypoalphalipoproteinemia-2 is an autosomal recessive disorder characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C). The disorder is associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018). For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1789263">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824091"><div><strong>Familial apolipoprotein gene cluster deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824091</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.">C5774318</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apolipoprotein (apo) A-I is the major protein of HDL cholesterol, whereas apoC-III and apoA-IV are minor components. The genes coding for apoA-I, apoC-III, and apoA-IV are adjacent to one another on the long arm of chromosome 11. Familial apolipoprotein gene cluster deletion syndrome has been described in 1 family and found to be a homozygous deletion of the entire APOA1/C3/A4 gene complex. This results in a lack of expression of these plasma lipoproteins, with marked HDL-C deficiency in the homozygote and approximately half-normal levels of these apolipoproteins and HDL-C in the heterozygotes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824091">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALDH18A1-related de Barsy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornea plana 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial apolipoprotein gene cluster deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">H syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia, autosomal dominant, 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_309962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia, autosomal dominant, type B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_152875" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia, familial, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipidemia due to hepatic triglyceride lipase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlipoproteinemia, type II, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1789263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoalphalipoproteinemia, primary, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated congenital megalocornea</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalocornea-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Norum disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sitosterolemia 1</a></div></span></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/28689098">Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva PRS,
|
||
Jannes CE,
|
||
Oliveira TGM,
|
||
Miname MH,
|
||
Rocha VZ,
|
||
Chacra AP,
|
||
Gurgel MHC,
|
||
Montenegro RM,
|
||
Rodrigues Sobrinho CRM,
|
||
Bello Moreira AS,
|
||
Assad MHV,
|
||
Pinto MRC,
|
||
Tada MT,
|
||
Santos RD,
|
||
Pereira AC,
|
||
Krieger JE</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2017 Aug;263:257-262.
|
||
Epub 2017 Jun 22
|
||
doi: 10.1016/j.atherosclerosis.2017.06.917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28689098" target="_blank">28689098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25053660">Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuchel M,
|
||
Bruckert E,
|
||
Ginsberg HN,
|
||
Raal FJ,
|
||
Santos RD,
|
||
Hegele RA,
|
||
Kuivenhoven JA,
|
||
Nordestgaard BG,
|
||
Descamps OS,
|
||
Steinhagen-Thiessen E,
|
||
Tybjærg-Hansen A,
|
||
Watts GF,
|
||
Averna M,
|
||
Boileau C,
|
||
Borén J,
|
||
Catapano AL,
|
||
Defesche JC,
|
||
Hovingh GK,
|
||
Humphries SE,
|
||
Kovanen PT,
|
||
Masana L,
|
||
Pajukanta P,
|
||
Parhofer KG,
|
||
Ray KK,
|
||
Stalenhoef AF,
|
||
Stroes E,
|
||
Taskinen MR,
|
||
Wiegman A,
|
||
Wiklund O,
|
||
Chapman MJ;
|
||
European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2014 Aug 21;35(32):2146-57.
|
||
Epub 2014 Jul 22
|
||
doi: 10.1093/eurheartj/ehu274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25053660" target="_blank">25053660</a><a href="/pmc/articles/PMC4139706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(arcus%20senilis)%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/35502026">Corneal densitometry in patients with arcus senilis and its correlation with serum lipid levels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz YC,
|
||
Ipek SC,
|
||
Ozer MD,
|
||
Celebi T</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 May;70(5):1556-1563.
|
||
doi: 10.4103/ijo.IJO_2696_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35502026" target="_blank">35502026</a><a href="/pmc/articles/PMC9332968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476827">Familial hypercholesterolaemia: A guide for general practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brett T,
|
||
Arnold-Reed D</span><br />
|
||
<span class="medgenPMjournal">Aust J Gen Pract</span>
|
||
2019 Sep;48(9):650-652.
|
||
doi: 10.31128/AJGP-04-19-4910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31476827" target="_blank">31476827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29419393">A keen eye for risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ford TJ,
|
||
Rocchiccioli P</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2018 Feb 1;360:j5884.
|
||
doi: 10.1136/bmj.j5884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29419393" target="_blank">29419393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15336583">Bedside diagnosis of coronary artery disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chun AA,
|
||
McGee SR</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2004 Sep 1;117(5):334-43.
|
||
doi: 10.1016/j.amjmed.2004.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15336583" target="_blank">15336583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/318034">Corneal degenerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedlaender MH,
|
||
Smolin G</span><br />
|
||
<span class="medgenPMjournal">Ann Ophthalmol</span>
|
||
1979 Oct;11(10):1485-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/318034" target="_blank">318034</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arcus%20senilis%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 (62)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25053660">Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuchel M,
|
||
Bruckert E,
|
||
Ginsberg HN,
|
||
Raal FJ,
|
||
Santos RD,
|
||
Hegele RA,
|
||
Kuivenhoven JA,
|
||
Nordestgaard BG,
|
||
Descamps OS,
|
||
Steinhagen-Thiessen E,
|
||
Tybjærg-Hansen A,
|
||
Watts GF,
|
||
Averna M,
|
||
Boileau C,
|
||
Borén J,
|
||
Catapano AL,
|
||
Defesche JC,
|
||
Hovingh GK,
|
||
Humphries SE,
|
||
Kovanen PT,
|
||
Masana L,
|
||
Pajukanta P,
|
||
Parhofer KG,
|
||
Ray KK,
|
||
Stalenhoef AF,
|
||
Stroes E,
|
||
Taskinen MR,
|
||
Wiegman A,
|
||
Wiklund O,
|
||
Chapman MJ;
|
||
European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2014 Aug 21;35(32):2146-57.
|
||
Epub 2014 Jul 22
|
||
doi: 10.1093/eurheartj/ehu274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25053660" target="_blank">25053660</a><a href="/pmc/articles/PMC4139706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15281982">Pseudogerontoxon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeng BH,
|
||
Whitcher JP,
|
||
Margolis TP</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2004 Aug;32(4):433-4.
|
||
doi: 10.1111/j.1442-9071.2004.00849.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15281982" target="_blank">15281982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11768918">Ophthaproblem. Keratoconus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urton T,
|
||
Sharma S</span><br />
|
||
<span class="medgenPMjournal">Can Fam Physician</span>
|
||
2001 Nov;47:2225, 2233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11768918" target="_blank">11768918</a><a href="/pmc/articles/PMC2018470" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/318034">Corneal degenerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedlaender MH,
|
||
Smolin G</span><br />
|
||
<span class="medgenPMjournal">Ann Ophthalmol</span>
|
||
1979 Oct;11(10):1485-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/318034" target="_blank">318034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1242181">Letter: Arcus senilis and carotid disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sandok BA</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1975 Nov 10;234(6):589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1242181" target="_blank">1242181</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arcus%20senilis%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 (59)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31476827">Familial hypercholesterolaemia: A guide for general practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brett T,
|
||
Arnold-Reed D</span><br />
|
||
<span class="medgenPMjournal">Aust J Gen Pract</span>
|
||
2019 Sep;48(9):650-652.
|
||
doi: 10.31128/AJGP-04-19-4910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31476827" target="_blank">31476827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29582807">Rings on the eyes, matters of the heart.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ang SM,
|
||
Williams BK,
|
||
Shields CL</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2018 Apr;66(4):494.
|
||
doi: 10.4103/ijo.IJO_296_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29582807" target="_blank">29582807</a><a href="/pmc/articles/PMC5892049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29419393">A keen eye for risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ford TJ,
|
||
Rocchiccioli P</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2018 Feb 1;360:j5884.
|
||
doi: 10.1136/bmj.j5884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29419393" target="_blank">29419393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25053660">Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuchel M,
|
||
Bruckert E,
|
||
Ginsberg HN,
|
||
Raal FJ,
|
||
Santos RD,
|
||
Hegele RA,
|
||
Kuivenhoven JA,
|
||
Nordestgaard BG,
|
||
Descamps OS,
|
||
Steinhagen-Thiessen E,
|
||
Tybjærg-Hansen A,
|
||
Watts GF,
|
||
Averna M,
|
||
Boileau C,
|
||
Borén J,
|
||
Catapano AL,
|
||
Defesche JC,
|
||
Hovingh GK,
|
||
Humphries SE,
|
||
Kovanen PT,
|
||
Masana L,
|
||
Pajukanta P,
|
||
Parhofer KG,
|
||
Ray KK,
|
||
Stalenhoef AF,
|
||
Stroes E,
|
||
Taskinen MR,
|
||
Wiegman A,
|
||
Wiklund O,
|
||
Chapman MJ;
|
||
European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2014 Aug 21;35(32):2146-57.
|
||
Epub 2014 Jul 22
|
||
doi: 10.1093/eurheartj/ehu274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25053660" target="_blank">25053660</a><a href="/pmc/articles/PMC4139706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4714797">Werner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bullock JD,
|
||
Howard RO</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1973 Jul;90(1):53-6.
|
||
doi: 10.1001/archopht.1973.01000050055011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4714797" target="_blank">4714797</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arcus%20senilis%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 (25)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30179711">Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lock JH,
|
||
Ross CA,
|
||
Flaherty M</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2018 Dec;22(6):467-468.
|
||
Epub 2018 Sep 1
|
||
doi: 10.1016/j.jaapos.2018.03.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30179711" target="_blank">30179711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15336583">Bedside diagnosis of coronary artery disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chun AA,
|
||
McGee SR</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2004 Sep 1;117(5):334-43.
|
||
doi: 10.1016/j.amjmed.2004.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15336583" target="_blank">15336583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1266756">Multivariate prediction of coronary heart disease during 8.5 year follow-up in the Western Collaborative Group Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenman RH,
|
||
Brand RJ,
|
||
Sholtz RI,
|
||
Friedman M</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
1976 May;37(6):903-10.
|
||
doi: 10.1016/0002-9149(76)90117-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1266756" target="_blank">1266756</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4427623">Relation of corneal arcus to cardiovascular risk factors and the incidence of coronary disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenman RH,
|
||
Brand RJ,
|
||
Sholtz RI,
|
||
Jenkins CD</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1974 Dec 19;291(25):1322-4.
|
||
doi: 10.1056/NEJM197412192912503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4427623" target="_blank">4427623</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13630753">Association of specific overt behavior pattern with blood and cardiovascular findings; blood cholesterol level, blood clotting time, incidence of arcus senilis, and clinical coronary artery disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">FRIEDMAN M,
|
||
ROSENMAN RH</span><br />
|
||
<span class="medgenPMjournal">J Am Med Assoc</span>
|
||
1959 Mar 21;169(12):1286-96.
|
||
doi: 10.1001/jama.1959.03000290012005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13630753" target="_blank">13630753</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arcus%20senilis%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38526957">Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia: the HELLAS-FH Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rallidis LS,
|
||
Rizos CV,
|
||
Papathanasiou KA,
|
||
Liamis G,
|
||
Skoumas I,
|
||
Garoufi A,
|
||
Kolovou G,
|
||
Tziomalos K,
|
||
Skalidis E,
|
||
Kotsis V,
|
||
Sfikas G,
|
||
Doumas M,
|
||
Anagnostis P,
|
||
Lambadiari V,
|
||
Giannakopoulou V,
|
||
Kiouri E,
|
||
Anastasiou G,
|
||
Petkou E,
|
||
Koutagiar I,
|
||
Attilakos A,
|
||
Kolovou V,
|
||
Zacharis E,
|
||
Antza C,
|
||
Koumaras C,
|
||
Boutari C,
|
||
Liberopoulos E</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Med (Hagerstown)</span>
|
||
2024 May 1;25(5):370-378.
|
||
Epub 2024 Mar 19
|
||
doi: 10.2459/JCM.0000000000001612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38526957" target="_blank">38526957</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24306057">Non-invasive measurement of transparency, arcus senilis, and scleral rim diameter of corneas during eye banking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acquart S,
|
||
Campolmi N,
|
||
He Z,
|
||
Pataia G,
|
||
Jullienne R,
|
||
Garraud O,
|
||
Nguyen F,
|
||
Péoc'h M,
|
||
Lépine T,
|
||
Thuret G,
|
||
Gain P</span><br />
|
||
<span class="medgenPMjournal">Cell Tissue Bank</span>
|
||
2014 Sep;15(3):471-82.
|
||
Epub 2013 Dec 4
|
||
doi: 10.1007/s10561-013-9414-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24306057" target="_blank">24306057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14967295">Keratoglobus and posterior subcapsular cataract: surgical considerations and in vivo microstructural analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ku JY,
|
||
Grupcheva CN,
|
||
Fisk MJ,
|
||
McGhee CN</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2004 Jan;30(1):237-42.
|
||
doi: 10.1016/S0886-3350(03)00644-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14967295" target="_blank">14967295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/318034">Corneal degenerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedlaender MH,
|
||
Smolin G</span><br />
|
||
<span class="medgenPMjournal">Ann Ophthalmol</span>
|
||
1979 Oct;11(10):1485-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/318034" target="_blank">318034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1266756">Multivariate prediction of coronary heart disease during 8.5 year follow-up in the Western Collaborative Group Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenman RH,
|
||
Brand RJ,
|
||
Sholtz RI,
|
||
Friedman M</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
1976 May;37(6):903-10.
|
||
doi: 10.1016/0002-9149(76)90117-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1266756" target="_blank">1266756</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arcus%20senilis%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 (36)</a></div></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/17049531">Corneal arcus as coronary artery disease risk factor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández A,
|
||
Sorokin A,
|
||
Thompson PD</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2007 Aug;193(2):235-40.
|
||
Epub 2006 Oct 17
|
||
doi: 10.1016/j.atherosclerosis.2006.08.060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17049531" target="_blank">17049531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15336583">Bedside diagnosis of coronary artery disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chun AA,
|
||
McGee SR</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2004 Sep 1;117(5):334-43.
|
||
doi: 10.1016/j.amjmed.2004.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15336583" target="_blank">15336583</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arcus%20senilis%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 (2)</a></div></div>
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