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<meta name="keywords" content="C0003076, absent iris, agenesis of iris, an, aniridia, aplasia of iris, congenital abnormality, congenital absence of iris, congenital aniridia, irideremia, 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="PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1941
|
||
ConceptID=C0003076
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital aniridia<span class="h1sub">(AN)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1941</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.">C0003076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AN; Aniridia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Aniridia (69278003); Irideremia (69278003); Aplasia of iris (69278003); Congenital aniridia (69278003); Agenesis of iris (69278003); Congenital absence of iris (69278003)</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/54765">TRIM44</a>, <a target="_blank" href="/gene/26610">ELP4</a>, <a target="_blank" href="/gene/7490">WT1</a>, <a target="_blank" href="/gene/5080">PAX6</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:0000526">HP:0000526</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019172" target="_blank">MONDO:0019172</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606985" target="_blank">606985</a>; <a href="https://omim.org/entry/607108" target="_blank">607108</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1360" target="_blank">PAX6-Related Aniridia</a></div><div>PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1360#aniridia.Summary" target="NBK1360">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.GeneReview_Scope" target="NBK1360">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Diagnosis" target="NBK1360">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Clinical_Characteristics" target="NBK1360">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Genetically_Related_Allelic_Dis" target="NBK1360">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Differential_Diagnosis" target="NBK1360">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Management" target="NBK1360">Management</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Genetic_Counseling" target="NBK1360">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Resources" target="NBK1360">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Molecular_Genetics" target="NBK1360">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Chapter_Notes" target="NBK1360">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.References" target="NBK1360">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Mariya Moosajee | Melanie Hingorani | Anthony T Moore <a href="/books/NBK1360" target="NBK1360" title="NCBI Bookshelf: PAX6-Related Aniridia">view full author information</a></div></div>
|
||
</div>
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||
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||
<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 />Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).<br /><br />People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.<br /><br />Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors. <a target="_blank" href="https://medlineplus.gov/genetics/condition/aniridia">https://medlineplus.gov/genetics/condition/aniridia</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=C0003076[DISCUI]&test_type=Clinical" ref="ncbi_uid=1941">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1941" target="_blank" href="/omim/606985">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1360/" ref="ncbi_uid=1941">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1941" ref="ncbi_uid=1941">V</a></span></span><span class="TLline">Congenital aniridia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/978406" ref="tree=GTR&ncbi_uid=978406&link_uid=978406" title="View MedGen record for 'Isolated aniridia'">Isolated aniridia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0344542[DISCUI]&test_type=Clinical" ref="ncbi_uid=576337">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0344542[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=576337">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=576337" target="_blank" href="/omim/106210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1360/" ref="ncbi_uid=576337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=576337" ref="ncbi_uid=576337">V</a></span></span><span class="TLline"><a href="/medgen/576337" ref="tree=GTR&ncbi_uid=576337&link_uid=576337" title="View MedGen record for 'Aniridia 1'">Aniridia 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=C0344543[DISCUI]&test_type=Clinical" ref="ncbi_uid=138010">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=138010" target="_blank" href="/omim/617141">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=138010" ref="ncbi_uid=138010">V</a></span></span><span class="TLline"><a href="/medgen/138010" ref="tree=GTR&ncbi_uid=138010&link_uid=138010" title="View MedGen record for 'Aniridia 2'">Aniridia 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=C4310695[DISCUI]&test_type=Clinical" ref="ncbi_uid=934662">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934662" target="_blank" href="/omim/612298">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=934662" ref="ncbi_uid=934662">V</a></span></span><span class="TLline"><a href="/medgen/934662" ref="tree=GTR&ncbi_uid=934662&link_uid=934662" title="View MedGen record for 'Aniridia 3'">Aniridia 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1843362" ref="tree=GTR&ncbi_uid=1843362&link_uid=1843362" title="View MedGen record for 'Syndromic aniridia'">Syndromic aniridia</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/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/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="matched_ds">Congenital aniridia</span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/978406" ref="tree=MeSH" title="MedGen record for Isolated aniridia">Isolated aniridia</a></span><ul><li><span class="TLline"><a href="/medgen/576337" ref="tree=MeSH" title="MedGen record for Aniridia 1">Aniridia 1</a></span></li><li><span class="TLline"><a href="/medgen/138010" ref="tree=MeSH" title="MedGen record for Aniridia 2">Aniridia 2</a></span></li><li><span class="TLline"><a href="/medgen/934662" ref="tree=MeSH" title="MedGen record for Aniridia 3">Aniridia 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843362" ref="tree=MeSH" title="MedGen record for Syndromic aniridia">Syndromic aniridia</a></span><ul><li><span class="TLline"><a href="/medgen/419752" ref="tree=MeSH" title="MedGen record for Aniridia - intellectual disability syndrome">Aniridia - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400149" ref="tree=MeSH" title="MedGen record for Aniridia-absent patella syndrome">Aniridia-absent patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929405" ref="tree=MeSH" title="MedGen record for Aniridia-ptosis-intellectual disability-familial obesity syndrome">Aniridia-ptosis-intellectual disability-familial obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347952" ref="tree=MeSH" title="MedGen record for Aniridia-renal agenesis-psychomotor retardation syndrome">Aniridia-renal agenesis-psychomotor retardation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96563" ref="tree=MeSH" title="MedGen record for Gillespie syndrome">Gillespie syndrome</a></span></li></ul></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=19593&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital aniridia</span> in Orphanet.</div></div></div>
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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_42055"><div><strong>Focal dermal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42055</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.">C0016395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucous papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo- and syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, pointed chin, and small, underfolded pinnae. Dental anomalies can include hypodontia, enamel defects, and/or abnormally shaped teeth. Occasional findings include abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment and/or behavioral issues.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/42055">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_64512"><div><strong>11p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64512</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.">C0206115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/64512">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_576337"><div><strong>Aniridia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>576337</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.">C0344542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/576337">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_138010"><div><strong>Aniridia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138010</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.">C0344543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/138010">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_96563"><div><strong>Gillespie syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96563</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.">C0431401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96563">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_339935"><div><strong>Congenital primary aphakia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339935</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.">C1853230</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 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 ASGD2 have been reported with a congenital primary aphakia subtype. Congenital primary aphakia is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histologic criterion for CPAK. In contrast, in secondary aphakia, lens induction occurs and the lens vesicle develops to some degree, but is progressively resorbed perinatally, resulting in less severe ocular defects (summary by Valleix et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/339935">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347952"><div><strong>Aniridia-renal agenesis-psychomotor retardation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347952</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.">C1859782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347952">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_350085"><div><strong>Spinocerebellar ataxia type 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350085</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.">C1861732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/350085">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_350777"><div><strong>Aniridia, microcornea, and spontaneously Reabsorbed cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350777</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.">C1862867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Aniridia, microcornea, and spontaneously reabsorbed cataract represents a complex phenotype of ocular malformation. Bilateral microphthalmia, persistent fetal vasculature, and secondary glaucoma have also been observed (Marakhonov et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/350777">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400149"><div><strong>Aniridia-absent patella syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400149</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.">C1862868</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400149">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356331"><div><strong>Osteocraniostenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356331</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.">C1865639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FAM111A-related skeletal dysplasias include the milder phenotype of Kenny-Caffey syndrome (KCS) and a more severe lethal phenotype, osteocraniostenosis (OCS). KCS is characterized by proportionate short stature (typically postnatal onset), relative macrocephaly, large anterior fontanel with delayed closure, characteristic facial features, cortical thickening of the long bones with stenosis of the medullary cavity, and ophthalmologic and dental manifestations. OCS is characterized by intrauterine growth deficiency, microcephaly, characteristic facial features, decreased skull ossification, slender long bones with cortical thickening, stenosis of the medullary cavity of the long bones, flared metaphyses, and thin ribs with thoracic and pulmonary hypoplasia leading to respiratory insufficiency. Perinatal fractures may occur. Primary hypoparathyroidism with hypocalcemia and hyperphosphatemia can occur in individuals with KCS and OCS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356331">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382718"><div><strong>Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382718</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.">C2675904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382718">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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811487">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934662"><div><strong>Aniridia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934662</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.">C4310695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934662">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_935014"><div><strong>Chromosome 11p13 deletion syndrome, distal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>935014</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.">C4311047</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/935014">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1679270"><div><strong>Lactic aciduria due to D-lactic acid</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1679270</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.">C5193006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">D-lactic aciduria is characterized by elevated D-lactate in plasma and urine. Patients show elevated serum uric acid concentrations and low urinary uric acid levels, due to reduced renal clearance of uric acid, and affected adults may experience episodes of gouty arthropathy (Drabkin et al., 2019). For a discussion of genetic heterogeneity of serum uric acid concentration quantitative trait loci, see UAQTL1 (138900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1679270">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_64512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">11p partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_576337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia, microcornea, and spontaneously Reabsorbed cataract</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia-absent patella syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia-renal agenesis-psychomotor retardation syndrome</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_935014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 11p13 deletion syndrome, distal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital primary aphakia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dermal hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gillespie syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1679270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactic aciduria due to D-lactic acid</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteocraniostenosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382718" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36517210">Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fries FN,
|
||
Moslemani K,
|
||
Utheim TP,
|
||
Seitz B,
|
||
Käsmann-Kellner B,
|
||
Lagali NS</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2023 Dec 18;108(1):30-36.
|
||
doi: 10.1136/bjo-2021-320774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36517210" target="_blank">36517210</a><a href="/pmc/articles/PMC10804021" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32467297">Analysis of genotype-phenotype correlations in PAX6-associated aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasilyeva TA,
|
||
Marakhonov AV,
|
||
Voskresenskaya AA,
|
||
Kadyshev VV,
|
||
Käsmann-Kellner B,
|
||
Sukhanova NV,
|
||
Katargina LA,
|
||
Kutsev SI,
|
||
Zinchenko RA</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2021 Apr;58(4):270-274.
|
||
Epub 2020 May 28
|
||
doi: 10.1136/jmedgenet-2019-106172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32467297" target="_blank">32467297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19390808">Genotype/phenotype association in Indian congenital aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neethirajan G,
|
||
Solomon A,
|
||
Krishnadas SR,
|
||
Vijayalakshmi P,
|
||
Sundaresan P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2009 May;76(5):513-7.
|
||
Epub 2009 Apr 23
|
||
doi: 10.1007/s12098-009-0075-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19390808" target="_blank">19390808</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20aniridia%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 (8)</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/37146692">Future directions in managing aniridia-associated keratopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Velthoven AJH,
|
||
Utheim TP,
|
||
Notara M,
|
||
Bremond-Gignac D,
|
||
Figueiredo FC,
|
||
Skottman H,
|
||
Aberdam D,
|
||
Daniels JT,
|
||
Ferrari G,
|
||
Grupcheva C,
|
||
Koppen C,
|
||
Parekh M,
|
||
Ritter T,
|
||
Romano V,
|
||
Ferrari S,
|
||
Cursiefen C,
|
||
Lagali N,
|
||
LaPointe VLS,
|
||
Dickman MM</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2023 Sep-Oct;68(5):940-956.
|
||
Epub 2023 May 4
|
||
doi: 10.1016/j.survophthal.2023.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37146692" target="_blank">37146692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36375586">Congenital Aniridia and Ocular motility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alafaleq M,
|
||
Sordello L,
|
||
Bremond-Gignac D</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Mar;247:145-151.
|
||
Epub 2022 Nov 11
|
||
doi: 10.1016/j.ajo.2022.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36375586" target="_blank">36375586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34126653">Herpes simplex virus PCR in 2230 explanted corneal buttons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tóth G,
|
||
Berkó-Göttel B,
|
||
Seitz B,
|
||
Langenbucher A,
|
||
Stachon T,
|
||
Pluzsik MT,
|
||
Nagy ZZ,
|
||
Smola S,
|
||
Szentmáry N</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2022 Feb;100(1):e77-e82.
|
||
Epub 2021 Jun 14
|
||
doi: 10.1111/aos.14872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34126653" target="_blank">34126653</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34836587">Crystalline lens alterations in congenital aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Oria F,
|
||
Barraquer R,
|
||
Alio JL</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
||
2021 Nov;96 Suppl 1:38-51.
|
||
Epub 2021 Jun 12
|
||
doi: 10.1016/j.oftale.2020.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34836587" target="_blank">34836587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33675823">Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landsend ECS,
|
||
Lagali N,
|
||
Utheim TP</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2021 Nov-Dec;66(6):1031-1050.
|
||
Epub 2021 Mar 4
|
||
doi: 10.1016/j.survophthal.2021.02.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33675823" target="_blank">33675823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aniridia%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 (91)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36375586">Congenital Aniridia and Ocular motility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alafaleq M,
|
||
Sordello L,
|
||
Bremond-Gignac D</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Mar;247:145-151.
|
||
Epub 2022 Nov 11
|
||
doi: 10.1016/j.ajo.2022.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36375586" target="_blank">36375586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34126653">Herpes simplex virus PCR in 2230 explanted corneal buttons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tóth G,
|
||
Berkó-Göttel B,
|
||
Seitz B,
|
||
Langenbucher A,
|
||
Stachon T,
|
||
Pluzsik MT,
|
||
Nagy ZZ,
|
||
Smola S,
|
||
Szentmáry N</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2022 Feb;100(1):e77-e82.
|
||
Epub 2021 Jun 14
|
||
doi: 10.1111/aos.14872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34126653" target="_blank">34126653</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34836590">Macular involvement in congenital aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casas-Llera P,
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Ruiz-Casas D,
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Alió JL</span><br />
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<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
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2021 Nov;96 Suppl 1:60-67.
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|
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|
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<span class="bold">PMID: </span><a href="/pubmed/34836590" target="_blank">34836590</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34404663">Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Puthalath AS,
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Gupta N,
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Verma PK</span><br />
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2021 Aug 17;14(8)
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26738798">Congenital Aniridia and the Ocular Surface.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ihnatko R,
|
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Eden U,
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Fagerholm P,
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Lagali N</span><br />
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<span class="medgenPMjournal">Ocul Surf</span>
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2016 Apr;14(2):196-206.
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<span class="bold">PMID: </span><a href="/pubmed/26738798" target="_blank">26738798</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aniridia%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 (94)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36379301">Artificial iris implantation in congenital aniridia: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Romano D,
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Bremond-Gignac D,
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Barbany M,
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Rahman A,
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Mauring L,
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Semeraro F,
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Lagali N,
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<span class="bold">PMID: </span><a href="/pubmed/36379301" target="_blank">36379301</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Soyugelen Demirok G,
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<div class="nl"><a target="_blank" href="/pubmed/26648453">The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia.</a></div>
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Ji Y,
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<span class="bold">PMID: </span><a href="/pubmed/26648453" target="_blank">26648453</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4462243">Progressive changes in the angle in congenital aniridia, with development of glaucoma.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4423758">Progressive changes in the angle in congenital aniridia, with development of glaucoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Grant WM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aniridia%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37067366">Rod and Cone Dark Adaptation in Congenital Aniridia and Its Association With Retinal Structure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pedersen HR,
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Gilson SJ,
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Utheim ØA,
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Utheim TP,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36280537">Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Daruich A,
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Duncan M,
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Robert MP,
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Lagali N,
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Semina EV,
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Aberdam D,
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Ferrari S,
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Romano V,
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des Roziers CB,
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Benkortebi R,
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De Vergnes N,
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Polak M,
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Chiambaretta F,
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Epub 2022 Oct 22
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doi: 10.1016/j.preteyeres.2022.101133.
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<span class="bold">PMID: </span><a href="/pubmed/36280537" target="_blank">36280537</a><a href="/pmc/articles/PMC11062406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/35791108">Clinical and molecular aspects of congenital aniridia - A review of current concepts.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tibrewal S,
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Ratna R,
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Gour A,
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Agarkar S,
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Dubey S,
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Ganesh S,
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Kekunnaya R,
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Sangwan V,
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Liu Y,
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Vanita V</span><br />
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2022 Jul;70(7):2280-2292.
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doi: 10.4103/ijo.IJO_2255_21.
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<span class="bold">PMID: </span><a href="/pubmed/35791108" target="_blank">35791108</a><a href="/pmc/articles/PMC9426064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33675823">Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Landsend ECS,
|
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Lagali N,
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Utheim TP</span><br />
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<span class="medgenPMjournal">Surv Ophthalmol</span>
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2021 Nov-Dec;66(6):1031-1050.
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Epub 2021 Mar 4
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doi: 10.1016/j.survophthal.2021.02.011.
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<span class="bold">PMID: </span><a href="/pubmed/33675823" target="_blank">33675823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30315214">Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filatova AY,
|
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Vasilyeva TA,
|
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Marakhonov AV,
|
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Voskresenskaya AA,
|
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Zinchenko RA,
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Skoblov MY</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2019 Mar;27(3):488-493.
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Epub 2018 Oct 12
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||
doi: 10.1038/s41431-018-0288-y.
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<span class="bold">PMID: </span><a href="/pubmed/30315214" target="_blank">30315214</a><a href="/pmc/articles/PMC6460560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aniridia%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 (53)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37067366">Rod and Cone Dark Adaptation in Congenital Aniridia and Its Association With Retinal Structure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedersen HR,
|
||
Gilson SJ,
|
||
Landsend ECS,
|
||
Utheim ØA,
|
||
Utheim TP,
|
||
Baraas RC</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2023 Apr 3;64(4):18.
|
||
doi: 10.1167/iovs.64.4.18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067366" target="_blank">37067366</a><a href="/pmc/articles/PMC10120381" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32396632">PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedersen HR,
|
||
Baraas RC,
|
||
Landsend ECS,
|
||
Utheim ØA,
|
||
Utheim TP,
|
||
Gilson SJ,
|
||
Neitz M</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2020 May 11;61(5):14.
|
||
doi: 10.1167/iovs.61.5.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32396632" target="_blank">32396632</a><a href="/pmc/articles/PMC7405610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30315214">Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filatova AY,
|
||
Vasilyeva TA,
|
||
Marakhonov AV,
|
||
Voskresenskaya AA,
|
||
Zinchenko RA,
|
||
Skoblov MY</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2019 Mar;27(3):488-493.
|
||
Epub 2018 Oct 12
|
||
doi: 10.1038/s41431-018-0288-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30315214" target="_blank">30315214</a><a href="/pmc/articles/PMC6460560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26738798">Congenital Aniridia and the Ocular Surface.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ihnatko R,
|
||
Eden U,
|
||
Fagerholm P,
|
||
Lagali N</span><br />
|
||
<span class="medgenPMjournal">Ocul Surf</span>
|
||
2016 Apr;14(2):196-206.
|
||
Epub 2015 Dec 29
|
||
doi: 10.1016/j.jtos.2015.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26738798" target="_blank">26738798</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25435751">Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang JW,
|
||
Kim JH,
|
||
Kim SJ,
|
||
Yu YS</span><br />
|
||
<span class="medgenPMjournal">Korean J Ophthalmol</span>
|
||
2014 Dec;28(6):479-85.
|
||
Epub 2014 Nov 19
|
||
doi: 10.3341/kjo.2014.28.6.479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25435751" target="_blank">25435751</a><a href="/pmc/articles/PMC4239467" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aniridia%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 (60)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36379301">Artificial iris implantation in congenital aniridia: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano D,
|
||
Bremond-Gignac D,
|
||
Barbany M,
|
||
Rahman A,
|
||
Mauring L,
|
||
Semeraro F,
|
||
Cursiefen C,
|
||
Lagali N,
|
||
Romano V</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2023 Jul-Aug;68(4):794-808.
|
||
Epub 2022 Nov 12
|
||
doi: 10.1016/j.survophthal.2022.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36379301" target="_blank">36379301</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aniridia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
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|
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|
||
|
||
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|
||
|
||
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|
||
</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">
|
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet mgSection" id="ID_106">
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0003076%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0003076%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0003076%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0003076%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20aniridia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20aniridia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Congenital%20aniridia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_116">
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<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>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Congenital+aniridia/8046" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/aniridia_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20aniridia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/aniridia" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/20301534" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Congenital%20aniridia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
||
<li>
|
||
<a href="/pubmed?term=Congenital%20aniridia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1941" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0003076[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=1941" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1941" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1941" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1941" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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Turn Off
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4efa084f3725e597b8f53">Congenital aniridia</a>
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<div class="ralinkpop offscreen_noflow">Congenital aniridia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4ef9b84f3725e597b7add">11p partial monosomy syndrome</a>
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<div class="ralinkpop offscreen_noflow">11p partial monosomy syndrome<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d4ef9767c23b31e0f567e0">Wilms tumor 1</a>
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<div class="ralinkpop offscreen_noflow">Wilms tumor 1<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d4ef6d67c23b31e0f4b843">PAX6-Related Aniridia - GeneReviews®</a>
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<div class="ralinkpop offscreen_noflow">PAX6-Related Aniridia - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary"></div>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d4ef6bcde49f3df71bdab5">Table 3. [PAX6 Pathogenic Variants Discussed in This GeneReview]. - GeneReviews®</a>
|
||
<div class="ralinkpop offscreen_noflow">Table 3. [PAX6 Pathogenic Variants Discussed in This GeneReview]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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