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<meta name="keywords" content="C1840452, disease or syndrome, dominant hyaloideoretinal dystrophy of wagner, erosive vitreoretinopathy, ervr, hyaloideoretinal degeneration of wagner, vcan, vcan-related vitreoretinopathy, vitreoretinal degeneration, wagner type, wagner disease, wagner disease (formerly), wagner syndrome, wagner syndrome 1, wagner syndrome type 1, wagner vitreoretinal degeneration, wagner vitreoretinopathy, wgn1, wgvrp, 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="Wagner vitreoretinopathy (WGVRP) is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=326741
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||
ConceptID=C1840452
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Wagner syndrome<span class="h1sub">(WGN1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326741</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1840452</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Erosive Vitreoretinopathy; HYALOIDEORETINAL DEGENERATION OF WAGNER; VCAN-Related Vitreoretinopathy; Wagner disease; Wagner disease (formerly); Wagner syndrome type 1; WAGNER VITREORETINAL DEGENERATION; WAGNER VITREORETINOPATHY; WGN1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Wagner syndrome (232064001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="VCAN - ID: 1462 - NCBI Gene" href="/gene/1462" class="medgenPMinfo">VCAN</a> (5q14.2-14.3)</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:0030673">HP:0030673</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007740" target="_blank">MONDO:0007740</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/143200" target="_blank">143200</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=898">ORPHA898</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">Wagner vitreoretinopathy (WGVRP) is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent.<br /><br />In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) becomes thin and may separate from the back of the eye (retinal detachment). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place. Additionally, the thick, clear gel that fills the eyeball (the vitreous) becomes watery and thin. People with Wagner syndrome develop a clouding of the lens of the eye (cataract). Affected individuals may also experience nearsightedness (myopia), progressive night blindness, or a narrowing of their field of vision.<br /><br />Vision impairment in people with Wagner syndrome can vary from near normal vision to complete loss of vision in both eyes. <a target="_blank" href="https://medlineplus.gov/genetics/condition/wagner-syndrome">https://medlineplus.gov/genetics/condition/wagner-syndrome</a></div></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_42224"><div><strong>Glaucoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42224</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.">C0017601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42224">Feature record</a> | <a href="/medgen?term=%22Glaucoma%22%5BClinical%20Features%5D%20OR%2042224%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87480"><div><strong>Vitreoretinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87480</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.">C0344290</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87480">Feature record</a> | <a href="/medgen?term=%22Vitreoretinopathy%22%5BClinical%20Features%5D%20OR%2087480%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333564"><div><strong>Retinal pigment epithelial atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333564</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.">C1840457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333564">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20atrophy%22%5BClinical%20Features%5D%20OR%20333564%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_784038"><div><strong>Visual loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>784038</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.">C3665386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/784038">Feature record</a> | <a href="/medgen?term=%22Visual%20loss%22%5BClinical%20Features%5D%20OR%20784038%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854603"><div><strong>Visual field defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854603</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.">C3887875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An absolute or relative reduction in the extent of the normal field of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854603">Feature record</a> | <a href="/medgen?term=%22Visual%20field%20defect%22%5BClinical%20Features%5D%20OR%20854603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870380"><div><strong>Peripheral tractional retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870380</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.">C4024825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tractional retinal detachment at the periphery of the retina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870380">Feature record</a> | <a href="/medgen?term=%22Peripheral%20tractional%20retinal%20detachment%22%5BClinical%20Features%5D%20OR%20870380%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_884881"><div><strong>Chorioretinal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>884881</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.">C4048273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the choroid and retinal layers of the fundus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/884881">Feature record</a> | <a href="/medgen?term=%22Chorioretinal%20atrophy%22%5BClinical%20Features%5D%20OR%20884881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892913"><div><strong>Exudative vitreoretinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892913</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.">C4072980</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/892913">Feature record</a> | <a href="/medgen?term=%22Exudative%20vitreoretinopathy%22%5BClinical%20Features%5D%20OR%20892913%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892643"><div><strong>Optically empty vitreous</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892643</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.">C4073118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892643">Feature record</a> | <a href="/medgen?term=%22Optically%20empty%20vitreous%22%5BClinical%20Features%5D%20OR%20892643%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_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_884881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorioretinal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exudative vitreoretinopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42224" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glaucoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optically empty vitreous</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral tractional retinal detachment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual field defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_784038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual loss</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitreoretinopathy</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=C1840452[DISCUI]&test_type=Clinical" ref="ncbi_uid=326741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=326741" target="_blank" href="/omim/118661">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=326741" ref="ncbi_uid=326741">V</a></span></span><span class="TLline">Wagner syndrome</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/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870895" ref="tree=MeSH" title="MedGen record for Abnormal vitreous humor morphology">Abnormal vitreous humor morphology</a></span><ul><li><span class="TLline"><a href="/medgen/87480" ref="tree=MeSH" title="MedGen record for Vitreoretinopathy">Vitreoretinopathy</a></span><ul><li><span class="matched_ds">Wagner syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=8564&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Wagner syndrome</span> in Orphanet.</div></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/36007184">WIDEFIELD SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS IN WAGNER SYNDROME.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bleicher ID,
|
||
Garg I,
|
||
Hoyek S,
|
||
Place E,
|
||
Miller JB,
|
||
Patel NA</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2024 Jan 1;18(1):80-86.
|
||
doi: 10.1097/ICB.0000000000001307.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36007184" target="_blank">36007184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36780631">Stickler and Wagner Syndrome in African Americans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trinh MV,
|
||
Lee JG,
|
||
Ferrone PJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2023 Feb;54(2):97-101.
|
||
Epub 2023 Feb 1
|
||
doi: 10.3928/23258160-20221118-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36780631" target="_blank">36780631</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29071374">WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araújo JR,
|
||
Tavares-Ferreira J,
|
||
Estrela-Silva S,
|
||
Rocha P,
|
||
Brandão E,
|
||
Faria PA,
|
||
Falcão-Reis F,
|
||
Rocha-Sousa A</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2018 Jan;256(1):163-171.
|
||
Epub 2017 Oct 25
|
||
doi: 10.1007/s00417-017-3800-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29071374" target="_blank">29071374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26284746">Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothschild PR,
|
||
Burin-des-Roziers C,
|
||
Audo I,
|
||
Nedelec B,
|
||
Valleix S,
|
||
Brézin AP</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2015 Nov;160(5):1065-1072.e1.
|
||
Epub 2015 Aug 15
|
||
doi: 10.1016/j.ajo.2015.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26284746" target="_blank">26284746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10729292">COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards AJ,
|
||
Martin S,
|
||
Yates JR,
|
||
Scott JD,
|
||
Baguley DM,
|
||
Pope FM,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2000 Apr;84(4):364-71.
|
||
doi: 10.1136/bjo.84.4.364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10729292" target="_blank">10729292</a><a href="/pmc/articles/PMC1723423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wagner%20syndrome%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32818279">Complex Combined Tractional and Rhegmatogenous Retinal Detachment in a Twenty-Three-Year-Old Male With Wagner Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acón D,
|
||
Hussain RM,
|
||
Yannuzzi NA,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2020 Aug 1;51(8):467-471.
|
||
doi: 10.3928/23258160-20200804-07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32818279" target="_blank">32818279</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29071374">WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araújo JR,
|
||
Tavares-Ferreira J,
|
||
Estrela-Silva S,
|
||
Rocha P,
|
||
Brandão E,
|
||
Faria PA,
|
||
Falcão-Reis F,
|
||
Rocha-Sousa A</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2018 Jan;256(1):163-171.
|
||
Epub 2017 Oct 25
|
||
doi: 10.1007/s00417-017-3800-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29071374" target="_blank">29071374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27327288">Multimodal Imaging in Wagner Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas AS,
|
||
Branham K,
|
||
Van Gelder RN,
|
||
Daiger SP,
|
||
Sullivan LS,
|
||
Bowne SJ,
|
||
Heckenlively JR,
|
||
Pennesi ME</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2016 Jun 1;47(6):574-9.
|
||
doi: 10.3928/23258160-20160601-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27327288" target="_blank">27327288</a><a href="/pmc/articles/PMC5530878" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26284746">Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothschild PR,
|
||
Burin-des-Roziers C,
|
||
Audo I,
|
||
Nedelec B,
|
||
Valleix S,
|
||
Brézin AP</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2015 Nov;160(5):1065-1072.e1.
|
||
Epub 2015 Aug 15
|
||
doi: 10.1016/j.ajo.2015.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26284746" target="_blank">26284746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7182967">The Wagner syndrome versus hereditary arthroophthalmopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maumenee IH,
|
||
Stoll HU,
|
||
Mets MB</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1982;80:349-65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7182967" target="_blank">7182967</a><a href="/pmc/articles/PMC1312274" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wagner%20syndrome%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24767812">Congenital glaucoma in Wagner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jewsbury H,
|
||
Fry AE,
|
||
Watts P,
|
||
Nas V,
|
||
Morgan J</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2014 Jun;18(3):291-3.
|
||
Epub 2014 Apr 24
|
||
doi: 10.1016/j.jaapos.2013.12.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24767812" target="_blank">24767812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23462753">Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen X,
|
||
Zhao K,
|
||
Sheng X,
|
||
Li Y,
|
||
Gao X,
|
||
Zhang X,
|
||
Kang X,
|
||
Pan X,
|
||
Liu Y,
|
||
Jiang C,
|
||
Shi H,
|
||
Chen X,
|
||
Rong W,
|
||
Chen LJ,
|
||
Lai TY,
|
||
Liu Y,
|
||
Wang X,
|
||
Yuan S,
|
||
Liu Q,
|
||
Vollrath D,
|
||
Pang CP,
|
||
Zhao C</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2013 Mar 1;54(3):2186-97.
|
||
doi: 10.1167/iovs.12-10967.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23462753" target="_blank">23462753</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wagner%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18309337">Clinical features of the congenital vitreoretinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edwards AO</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2008 Oct;22(10):1233-42.
|
||
Epub 2008 Feb 29
|
||
doi: 10.1038/eye.2008.38.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18309337" target="_blank">18309337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17035272">Clinical characterisation and molecular analysis of Wagner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meredith SP,
|
||
Richards AJ,
|
||
Flanagan DW,
|
||
Scott JD,
|
||
Poulson AV,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2007 May;91(5):655-9.
|
||
Epub 2006 Oct 11
|
||
doi: 10.1136/bjo.2006.104406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17035272" target="_blank">17035272</a><a href="/pmc/articles/PMC1954774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16636652">Identification of the genetic defect in the original Wagner syndrome family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kloeckener-Gruissem B,
|
||
Bartholdi D,
|
||
Abdou MT,
|
||
Zimmermann DR,
|
||
Berger W</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2006 Apr 17;12:350-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16636652" target="_blank">16636652</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wagner%20syndrome%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30055036">Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ankala A,
|
||
Jain N,
|
||
Hubbard B,
|
||
Alexander JJ,
|
||
Shankar SP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Aug;176(8):1778-1783.
|
||
Epub 2018 Jul 28
|
||
doi: 10.1002/ajmg.a.38855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30055036" target="_blank">30055036</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29071374">WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araújo JR,
|
||
Tavares-Ferreira J,
|
||
Estrela-Silva S,
|
||
Rocha P,
|
||
Brandão E,
|
||
Faria PA,
|
||
Falcão-Reis F,
|
||
Rocha-Sousa A</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2018 Jan;256(1):163-171.
|
||
Epub 2017 Oct 25
|
||
doi: 10.1007/s00417-017-3800-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29071374" target="_blank">29071374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28095098">Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tompson SW,
|
||
Johnson C,
|
||
Abbott D,
|
||
Bakall B,
|
||
Soler V,
|
||
Yanovitch TL,
|
||
Whisenhunt KN,
|
||
Klemm T,
|
||
Rozen S,
|
||
Stone EM,
|
||
Johnson M,
|
||
Young TL</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2017 Jan-Feb;38(1):43-50.
|
||
Epub 2017 Jan 17
|
||
doi: 10.1080/13816810.2016.1275018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28095098" target="_blank">28095098</a><a href="/pmc/articles/PMC6680000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26284746">Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothschild PR,
|
||
Burin-des-Roziers C,
|
||
Audo I,
|
||
Nedelec B,
|
||
Valleix S,
|
||
Brézin AP</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2015 Nov;160(5):1065-1072.e1.
|
||
Epub 2015 Aug 15
|
||
doi: 10.1016/j.ajo.2015.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26284746" target="_blank">26284746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12686304">Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donoso LA,
|
||
Edwards AO,
|
||
Frost AT,
|
||
Ritter R 3rd,
|
||
Ahmad N,
|
||
Vrabec T,
|
||
Rogers J,
|
||
Meyer D,
|
||
Parma S</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2003 Mar-Apr;48(2):191-203.
|
||
doi: 10.1016/s0039-6257(02)00460-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12686304" target="_blank">12686304</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wagner%20syndrome%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1840452%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C1840452%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1840452%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C1840452%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1840452%5bDISCUI%5d" target="_blank">See all (43)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=143200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=898" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Wagner%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=118661" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1462[geneid]" target="_blank">View VCAN variations in ClinVar</a></li><li><a href="/nuccore/256600243" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=143200" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Wagner+syndrome/7430" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/wagner_vitreoretinopathy" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Wagner%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/wagner-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7871/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Wagner%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Wagner%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=326741" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=326741" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1840452[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1840452[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=326741" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=326741" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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