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<meta name="keywords" content="C0265341, disease or syndrome, goniodysgenesis hypodontia, iridogoniodysgenesis with somatic anomalies, rieg, rieger anomaly, rieger syndrome, rieger's syndrome, 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="Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.\n\nAbout half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.\n\nThe signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.\n\nResearchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=78558
|
||
ConceptID=C0265341
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rieger anomaly<span class="h1sub">(RIEG)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78558</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:">C0265341</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>Goniodysgenesis hypodontia; Iridogoniodysgenesis with somatic anomalies; RIEG</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Rieger's syndrome (47507006); Rieger anomaly (47507006); Rieger syndrome (47507006)</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" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/5308">PITX2</a>, <a target="_blank" href="/gene/2296">FOXC1</a></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:0000558">HP:0000558</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019628" target="_blank">MONDO:0019628</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=91483">ORPHA91483</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">
|
||
<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">Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.<br /><br />About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.<br /><br />The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.<br /><br />Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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=C0265341[DISCUI]&test_type=Clinical" ref="ncbi_uid=78558">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0265341[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=78558">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78558" ref="ncbi_uid=78558">V</a></span></span><span class="TLline">Rieger anomaly</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714873[DISCUI]&test_type=Clinical" ref="ncbi_uid=811487">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3714873[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=811487">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811487" target="_blank" href="/omim/180500">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=811487" ref="ncbi_uid=811487">V</a></span></span><span class="TLline"><a href="/medgen/811487" ref="tree=GTR&ncbi_uid=811487&link_uid=811487" title="View MedGen record for 'Axenfeld-Rieger syndrome type 1'">Axenfeld-Rieger syndrome type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832229[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=316937">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1832229[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=316937">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=316937" target="_blank" href="/omim/601499">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/316937" ref="tree=GTR&ncbi_uid=316937&link_uid=316937" title="View MedGen record for 'Axenfeld-Rieger syndrome type 2'">Axenfeld-Rieger syndrome type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678503[DISCUI]&test_type=Clinical" ref="ncbi_uid=394534">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C2678503[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=394534">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394534" target="_blank" href="/omim/601090">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=394534" ref="ncbi_uid=394534">V</a></span></span><span class="TLline"><a href="/medgen/394534" ref="tree=GTR&ncbi_uid=394534&link_uid=394534" title="View MedGen record for 'Axenfeld-Rieger syndrome type 3'">Axenfeld-Rieger syndrome type 3</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870303" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the eye">Aplasia/Hypoplasia affecting the eye</a></span><ul><li><span class="TLline"><a href="/medgen/870297" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the anterior segment of the eye">Aplasia/Hypoplasia affecting the anterior segment of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/870306" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the iris">Aplasia/Hypoplasia of the iris</a></span><ul><li><span class="TLline"><a href="/medgen/91029" ref="tree=MeSH" title="MedGen record for Hypoplasia of the iris">Hypoplasia of the iris</a></span><ul><li><span class="matched_ds">Rieger anomaly</span><ul><li><span class="TLline"><a href="/medgen/811487" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome type 1">Axenfeld-Rieger syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/316937" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome type 2">Axenfeld-Rieger syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/394534" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome type 3">Axenfeld-Rieger syndrome type 3</a></span></li></ul></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=3485&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Rieger anomaly</span> in Orphanet.</div></div></div>
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</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">
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<div class="divPopper rprt" id="rdis_91031"><div><strong>Irido-corneo-trabecular dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91031</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.">C0344559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects. In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/91031">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_164212"><div><strong>SHORT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164212</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.">C0878684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/164212">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373199"><div><strong>Pierson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373199</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.">C1836876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373199">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338622"><div><strong>Growth delay due to insulin-like growth factor I resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338622</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.">C1849157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338622">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_349489"><div><strong>Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349489</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.">C1862373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349489">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355748"><div><strong>Anterior segment dysgenesis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355748</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.">C1866560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Some patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly. Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996). Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355748">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_811487"><div><strong>Axenfeld-Rieger syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811487</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.">C3714873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger Syndrome Linkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; 601499). A third form of Axenfeld-Rieger syndrome (RIEG3; 602482) is caused by mutation in the FOXC1 gene (601090) on chromosome 6p25. See 109120 for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811487">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior segment dysgenesis 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axenfeld-Rieger syndrome type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay due to insulin-like growth factor I resistance</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irido-corneo-trabecular dysgenesis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pierson syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SHORT syndrome</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/39097141">Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reis LM,
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Seese SE,
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||
Costakos D,
|
||
Semina EV</span><br />
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||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
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2024 Sep;102:101288.
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Epub 2024 Aug 2
|
||
doi: 10.1016/j.preteyeres.2024.101288.
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||
<span class="bold">PMID: </span><a href="/pubmed/39097141" target="_blank">39097141</a><a href="/pmc/articles/PMC11392650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rieger%20anomaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36255854">Characteristics of Corneal Endothelium in Axenfeld Rieger Spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Achanta DSR,
|
||
Chaurasia S,
|
||
Mohamed A,
|
||
Barur SR,
|
||
Ramappa M,
|
||
Edward DP</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2023 Oct 1;42(10):1216-1220.
|
||
Epub 2022 Oct 17
|
||
doi: 10.1097/ICO.0000000000003163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36255854" target="_blank">36255854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35023613">Approach to childhood glaucoma: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaconji T,
|
||
Zagora S,
|
||
Grigg JR</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2022 Mar;50(2):232-246.
|
||
Epub 2022 Jan 25
|
||
doi: 10.1111/ceo.14039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35023613" target="_blank">35023613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27055677">Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandal AK,
|
||
Pehere N</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2016 Jul;30(7):936-42.
|
||
Epub 2016 Apr 8
|
||
doi: 10.1038/eye.2016.66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27055677" target="_blank">27055677</a><a href="/pmc/articles/PMC4941068" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11092457">Rieger syndrome: a clinical, molecular, and biochemical analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amendt BA,
|
||
Semina EV,
|
||
Alward WL</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2000 Oct;57(11):1652-66.
|
||
doi: 10.1007/pl00000647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11092457" target="_blank">11092457</a><a href="/pmc/articles/PMC11146825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11004268">Axenfeld-Rieger syndrome in the age of molecular genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alward WL</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2000 Jul;130(1):107-15.
|
||
doi: 10.1016/s0002-9394(00)00525-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11004268" target="_blank">11004268</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rieger%20anomaly%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37225607">Axenfeld-Rieger anomaly with slit pupils.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shakrawal J,
|
||
Bhatnagar KR,
|
||
Agarwal N</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2023 Sep;46(7):829-830.
|
||
Epub 2023 May 22
|
||
doi: 10.1016/j.jfo.2022.12.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37225607" target="_blank">37225607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36229274">Peripheral Anterior Synechiae as a Manifestation of Axenfeld-Rieger Anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panigrahi A,
|
||
Gupta S,
|
||
Gupta V</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2023 Sep;130(9):972.
|
||
Epub 2022 Oct 11
|
||
doi: 10.1016/j.ophtha.2022.09.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36229274" target="_blank">36229274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35882526">Axenfeld-Rieger syndrome: more than meets the eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reis LM,
|
||
Maheshwari M,
|
||
Capasso J,
|
||
Atilla H,
|
||
Dudakova L,
|
||
Thompson S,
|
||
Zitano L,
|
||
Lay-Son G,
|
||
Lowry RB,
|
||
Black J,
|
||
Lee J,
|
||
Shue A,
|
||
Kremlikova Pourova R,
|
||
Vaneckova M,
|
||
Skalicka P,
|
||
Jedlickova J,
|
||
Trkova M,
|
||
Williams B,
|
||
Richard G,
|
||
Bachman K,
|
||
Seeley AH,
|
||
Costakos D,
|
||
Glaser TM,
|
||
Levin AV,
|
||
Liskova P,
|
||
Murray JC,
|
||
Semina EV</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Apr;60(4):368-379.
|
||
Epub 2022 Jul 26
|
||
doi: 10.1136/jmg-2022-108646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35882526" target="_blank">35882526</a><a href="/pmc/articles/PMC9912354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36152758">Posterior segment findings in Axenfeld-Rieger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobson A,
|
||
Bohnsack BL</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2022 Dec;26(6):320-322.
|
||
Epub 2022 Sep 22
|
||
doi: 10.1016/j.jaapos.2022.08.263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36152758" target="_blank">36152758</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35023613">Approach to childhood glaucoma: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karaconji T,
|
||
Zagora S,
|
||
Grigg JR</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2022 Mar;50(2):232-246.
|
||
Epub 2022 Jan 25
|
||
doi: 10.1111/ceo.14039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35023613" target="_blank">35023613</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rieger%20anomaly%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 (47)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31135590">Progressive High Hypermetropic Shift as a Refractive Surprise Following Glaucoma Filtration Surgery in a Phakic Child With Early-Onset Childhood Glaucoma Associated With Axenfeld-Rieger Anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar P,
|
||
Senthil S</span><br />
|
||
<span class="medgenPMjournal">J Glaucoma</span>
|
||
2019 Aug;28(8):e136-e139.
|
||
doi: 10.1097/IJG.0000000000001283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31135590" target="_blank">31135590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7714703">Idiopathic tractional corectopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atkinson CS,
|
||
Brodsky MC,
|
||
Hiles DA,
|
||
Simon JW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1994 Nov-Dec;31(6):387-90.
|
||
doi: 10.3928/0191-3913-19941101-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7714703" target="_blank">7714703</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rieger%20anomaly%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/30095606">Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nastasi S,
|
||
Gonzalez A,
|
||
Blake CR,
|
||
Beck A,
|
||
Agarwal-Sinha S</span><br />
|
||
<span class="medgenPMjournal">J Glaucoma</span>
|
||
2018 Oct;27(10):e165-e167.
|
||
doi: 10.1097/IJG.0000000000001046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30095606" target="_blank">30095606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27055677">Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandal AK,
|
||
Pehere N</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2016 Jul;30(7):936-42.
|
||
Epub 2016 Apr 8
|
||
doi: 10.1038/eye.2016.66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27055677" target="_blank">27055677</a><a href="/pmc/articles/PMC4941068" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16158432">Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCann E,
|
||
Kaye SB,
|
||
Newman W,
|
||
Norbury G,
|
||
Black GC,
|
||
Ellis IH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Oct 15;138A(3):278-81.
|
||
doi: 10.1002/ajmg.a.30944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16158432" target="_blank">16158432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9792859">Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mears AJ,
|
||
Jordan T,
|
||
Mirzayans F,
|
||
Dubois S,
|
||
Kume T,
|
||
Parlee M,
|
||
Ritch R,
|
||
Koop B,
|
||
Kuo WL,
|
||
Collins C,
|
||
Marshall J,
|
||
Gould DB,
|
||
Pearce W,
|
||
Carlsson P,
|
||
Enerbäck S,
|
||
Morissette J,
|
||
Bhattacharya S,
|
||
Hogan B,
|
||
Raymond V,
|
||
Walter MA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1998 Nov;63(5):1316-28.
|
||
doi: 10.1086/302109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9792859" target="_blank">9792859</a><a href="/pmc/articles/PMC1377542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8574420">Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bankier A,
|
||
Keith CG,
|
||
Temple IK</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
1995 Oct;4(4):304-12.
|
||
doi: 10.1097/00019605-199510000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8574420" target="_blank">8574420</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rieger%20anomaly%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33781219">Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gołaszewska K,
|
||
Dub N,
|
||
Saeed E,
|
||
Mariak Z,
|
||
Konopińska J</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2021 Mar 29;21(1):154.
|
||
doi: 10.1186/s12886-021-01899-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33781219" target="_blank">33781219</a><a href="/pmc/articles/PMC8008669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33367186">Ocular hypertension in Axenfeld-Rieger Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espinosa-Barberi G,
|
||
Galván González JF,
|
||
Antón A</span><br />
|
||
<span class="medgenPMjournal">Rom J Ophthalmol</span>
|
||
2020 Oct-Dec;64(4):455-458.
|
||
doi: 10.22336/rjo.2020.70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33367186" target="_blank">33367186</a><a href="/pmc/articles/PMC7739019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32159591">Causes of congenital corneal opacities and their management in a tertiary care center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karadag R,
|
||
Rapuano CJ,
|
||
Hammersmith KM,
|
||
Nagra PK</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Oftalmol</span>
|
||
2020 Mar-Apr;83(2):98-102.
|
||
doi: 10.5935/0004-2749.20200023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32159591" target="_blank">32159591</a><a href="/pmc/articles/PMC11826743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30226966">EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salinas-Torres VM,
|
||
De La O-Expinoza EA,
|
||
Salinas-Torres RA</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2016;27(4):479-483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30226966" target="_blank">30226966</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9792859">Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mears AJ,
|
||
Jordan T,
|
||
Mirzayans F,
|
||
Dubois S,
|
||
Kume T,
|
||
Parlee M,
|
||
Ritch R,
|
||
Koop B,
|
||
Kuo WL,
|
||
Collins C,
|
||
Marshall J,
|
||
Gould DB,
|
||
Pearce W,
|
||
Carlsson P,
|
||
Enerbäck S,
|
||
Morissette J,
|
||
Bhattacharya S,
|
||
Hogan B,
|
||
Raymond V,
|
||
Walter MA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1998 Nov;63(5):1316-28.
|
||
doi: 10.1086/302109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9792859" target="_blank">9792859</a><a href="/pmc/articles/PMC1377542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rieger%20anomaly%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 (19)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0265341%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0265341%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
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<li><a href="/gtr/tests?term=C0265341%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
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