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<meta name="keywords" content="C0266568, congenital abnormality, congenital retinal detachment, congenital retinal septum, ncrna disease, non-syndromic congenital retinal non-attachment, persistent fetal vasculature, persistent fetal vasculature syndrome, persistent foetal vasculature, persistent foetal vasculature syndrome, persistent hyaloid arteries, persistent hyaloid artery, persistent hyaloid vasculature, persistent hyaloid vasculatures, persistent hyperplasia of primary vitreous, persistent hyperplastic primary vitreous, persistent hypertrophic primary vitreous, persistent posterior fetal fibrovascular sheath of the lens, persistent posterior foetal fibrovascular sheath of the lens, persistent tunica vasculosa lentis, pfvs, phpv, phpv - persistent hyperplastic primary vitreous, remnants of the hyaloid vascular system, 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="Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=120583
|
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ConceptID=C0266568
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Persistent hyperplastic primary vitreous</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120583</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.">C0266568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Remnants of the hyaloid vascular system</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Persistent hyperplastic primary vitreous (314270008); PHPV - persistent hyperplastic primary vitreous (314270008); Persistent fetal vasculature syndrome (314270008); Persistent hyaloid artery (44647001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<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_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></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>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007968">HP:0007968</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019631" target="_blank">MONDO:0019631</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/221900" target="_blank">221900</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS221900" target="_blank">PS221900</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=91495">ORPHA91495</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">Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<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=C0266568[DISCUI]&test_type=Clinical" ref="ncbi_uid=120583">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=120583" target="_blank" href="/omim/221900">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=120583" ref="ncbi_uid=120583">V</a></span></span><span class="TLline">Persistent hyperplastic primary vitreous</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870895" ref="tree=MeSH" title="MedGen record for Abnormal vitreous humor morphology">Abnormal vitreous humor morphology</a></span><ul><li><span class="matched_ds">Persistent hyperplastic primary vitreous</span><ul><li><span class="TLline"><a href="/medgen/901085" ref="tree=MeSH" title="MedGen record for Glial remnants anterior to the optic disc">Glial remnants anterior to the optic disc</a></span></li><li><span class="TLline"><a href="/medgen/721716" ref="tree=MeSH" title="MedGen record for Glial remnants posterior to lens">Glial remnants posterior to lens</a></span></li><li><span class="TLline"><a href="/medgen/898371" ref="tree=MeSH" title="MedGen record for Hyaloid vascular remnant and retrolental mass">Hyaloid vascular remnant and retrolental mass</a></span></li><li><span class="TLline"><a href="/medgen/869732" ref="tree=MeSH" title="MedGen record for Vascular remnant arising from the disk">Vascular remnant arising from the disk</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12154&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Persistent hyperplastic primary vitreous</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_322281"><div><strong>Isolated optic nerve hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322281</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.">C1833797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322517"><div><strong>Holoprosencephaly 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322517</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.">C1834877</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 rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/322517">Condition Record</a></div></div>
|
||
<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>
|
||
<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_337547"><div><strong>Oculofaciocardiodental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337547</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.">C1846265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-), and teeth (dental). \n\nThe eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a high risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.\n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes, droopy eyelids (ptosis), and a nose with a high bridge and broad tip. Affected individuals may have a split (cleft) in their nose or in the roof of their mouth (cleft palate).\n\nHeart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).\n\nTeeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include the delayed loss of primary (baby) teeth, missing or abnormally small teeth, delayed teething (dentition), misaligned teeth, and defective tooth enamel.\n\nIndividuals with OFCD syndrome can have additional features, such as skeletal abnormalities (typically affecting the toes), hearing loss, and intellectual disabilities. </div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337547">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341456"><div><strong>Reese retinal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341456</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.">C1849450</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/341456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338025"><div><strong>Oculo-palato-cerebral syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338025</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.">C1850338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by Pellegrino et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338025">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347615"><div><strong>Stickler syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347615</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.">C1858084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350933"><div><strong>Acromelic frontonasal dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350933</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.">C1863616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350933">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370100"><div><strong>Persistent hyperplastic primary vitreous, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370100</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.">C1969783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012). PHPV shares phenotypic overlap with Norrie disease (310600). Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous A dominant form of PHPV has been described (PHPVAD; 611308).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370100">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766244"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766244</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.">C3553330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824055"><div><strong>Atelis syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824055</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.">C5774282</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atelis syndrome-2 (ATELS2) is an autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Additional more variable features may include hematologic abnormalities, variable ocular abnormalities, motor delay, and anxiety. Patient cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy (Grange et al., 2022). See also ATELS1 (620184), caused by mutation in the SLF2 gene (610348). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824055">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1859952"><div><strong>Coloboma, ocular, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1859952</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.">C5886785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Microphthalmia/coloboma-12 (MCOPCB12) is characterized by inter- and intrafamilial variability. In addition to microphthalmia and coloboma, other ocular anomalies include iris hypoplasia, aphakia or small lens, lens subluxation, congenital cataract, microcornea, and sclerocornea. Some patients also exhibit neurodevelopmental anomalies (Deml et al., 2016; Williamson et al., 2020). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1859952">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1863661"><div><strong>Neuroocular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863661</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.">C5925133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021). Genetic Heterogeneity of Neuroocular Syndrome See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863661">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromelic frontonasal dysostosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelis syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1859952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coloboma, ocular, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated optic nerve hypoplasia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1863661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroocular syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculo-palato-cerebral syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculofaciocardiodental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent hyperplastic primary vitreous, autosomal recessive</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reese retinal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome type 2</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/28967071">Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinagal J,
|
||
Gupta PC,
|
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Ram J,
|
||
Sharma M,
|
||
Singh SR,
|
||
Yangzes S,
|
||
Sukhija J,
|
||
Singh R</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2018 Mar;28(2):193-197.
|
||
Epub 2017 Sep 14
|
||
doi: 10.5301/ejo.5001017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28967071" target="_blank">28967071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28002851">Prenatal Ultrasonographic Diagnosis of Cataract: In Utero Manifestations of Cryptic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashwal E,
|
||
Achiron A,
|
||
Gilboa Y,
|
||
Berkenstadt M,
|
||
Rosner M,
|
||
Achiron R</span><br />
|
||
<span class="medgenPMjournal">Ultraschall Med</span>
|
||
2018 Apr;39(2):213-218.
|
||
Epub 2016 Dec 21
|
||
doi: 10.1055/s-0042-120841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28002851" target="_blank">28002851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6639512">Management of persistent hyperplastic primary vitreous.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stark WJ,
|
||
Fagadau W,
|
||
Lindsey PS,
|
||
Taylor HR,
|
||
Michels RG</span><br />
|
||
<span class="medgenPMjournal">Aust J Ophthalmol</span>
|
||
1983 Aug;11(3):195-200.
|
||
doi: 10.1111/j.1442-9071.1983.tb01078.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6639512" target="_blank">6639512</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22persistent%20hyperplastic%20primary%20vitreous%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 (9)</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/35472805">Long-Term Follow-Up of Recurrent Spontaneous Hyphema Caused by Ruptured Persistent Fetal Vasculature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moret E,
|
||
Wuarin R,
|
||
Schalenbourg A,
|
||
Wolfensberger TJ</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2022 Apr;239(4):556-558.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1055/a-1739-0462.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35472805" target="_blank">35472805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18524199">Leukocoria in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haider S,
|
||
Qureshi W,
|
||
Ali A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2008 May-Jun;45(3):179-80.
|
||
doi: 10.3928/01913913-20080501-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18524199" target="_blank">18524199</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12776904">Persistent hyperplastic primary vitreous.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bari V,
|
||
Murad M</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2003 Apr;53(4):165-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12776904" target="_blank">12776904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2347079">Keratometry in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asbell PA,
|
||
Chiang B,
|
||
Somers ME,
|
||
Morgan KS</span><br />
|
||
<span class="medgenPMjournal">CLAO J</span>
|
||
1990 Apr-Jun;16(2):99-102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2347079" target="_blank">2347079</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6877777">Persistent hyperplastic primary vitreous. Surgical treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stark WJ,
|
||
Lindsey PS,
|
||
Fagadau WR,
|
||
Michels RG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1983 May;90(5):452-7.
|
||
doi: 10.1016/s0161-6420(83)34531-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6877777" target="_blank">6877777</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20hyperplastic%20primary%20vitreous%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 (111)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38634925">Leukocoria Due to Persistent Hyperplastic Primary Vitreous.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu S,
|
||
Hao L,
|
||
Qin X</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2024 Apr 1;142(4):e234842.
|
||
Epub 2024 Apr 18
|
||
doi: 10.1001/jamaophthalmol.2023.4842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38634925" target="_blank">38634925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31124528">Myelinated retinal nerve fibers and persistent hyperplastic primary vitreous.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta S,
|
||
Shiny H,
|
||
Bhukya RK,
|
||
Jain S,
|
||
Kumar V</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2019 Jun;67(6):952.
|
||
doi: 10.4103/ijo.IJO_1518_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31124528" target="_blank">31124528</a><a href="/pmc/articles/PMC6552573" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30375202">Persistent Fetal Vasculature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen C,
|
||
Xiao H,
|
||
Ding X</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2019 Jan-Feb;8(1):86-95.
|
||
Epub 2018 Oct 30
|
||
doi: 10.22608/APO.201854.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30375202" target="_blank">30375202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29480243">Possible retinoblastoma?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shields CL,
|
||
Elimimian EB</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2018 Mar;66(3):359.
|
||
doi: 10.4103/ijo.IJO_1310_17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29480243" target="_blank">29480243</a><a href="/pmc/articles/PMC5859587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2347079">Keratometry in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asbell PA,
|
||
Chiang B,
|
||
Somers ME,
|
||
Morgan KS</span><br />
|
||
<span class="medgenPMjournal">CLAO J</span>
|
||
1990 Apr-Jun;16(2):99-102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2347079" target="_blank">2347079</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20hyperplastic%20primary%20vitreous%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 (200)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37870909">AN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Zhang Q,
|
||
Zhao P</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2023 Nov 1;43(11):2010-2018.
|
||
doi: 10.1097/IAE.0000000000003892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37870909" target="_blank">37870909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22108353">Infant Aphakia Treatment Study: effects of persistent fetal vasculature on outcome at 1 year of age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrison DG,
|
||
Wilson ME,
|
||
Trivedi RH,
|
||
Lambert SR,
|
||
Lynn MJ;
|
||
Infant Aphakia Treatment Study Group</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2011 Oct;15(5):427-31.
|
||
doi: 10.1016/j.jaapos.2011.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22108353" target="_blank">22108353</a><a href="/pmc/articles/PMC3223380" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10766149">Persistent hyperplastic primary vitreous associated with septo-optic-pituitary dysplasia and schizencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katsuya Lauer A,
|
||
Balish MJ,
|
||
Palmer EA</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
2000 Apr;118(4):578-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10766149" target="_blank">10766149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2005560">Pediatric cataract surgery and intraocular lens implantation: a new technique for preventing or excising postoperative secondary membranes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mackool RJ,
|
||
Chhatiawala H</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
1991 Jan;17(1):62-6.
|
||
doi: 10.1016/s0886-3350(13)80985-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2005560" target="_blank">2005560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3578474">Retinopathy of prematurity-like fundus and persistent hyperplastic primary vitreous associated with maternal cocaine use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teske MP,
|
||
Trese MT</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1987 May 15;103(5):719-20.
|
||
doi: 10.1016/s0002-9394(14)74343-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3578474" target="_blank">3578474</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20hyperplastic%20primary%20vitreous%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 (22)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35472805">Long-Term Follow-Up of Recurrent Spontaneous Hyphema Caused by Ruptured Persistent Fetal Vasculature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moret E,
|
||
Wuarin R,
|
||
Schalenbourg A,
|
||
Wolfensberger TJ</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2022 Apr;239(4):556-558.
|
||
Epub 2022 Apr 26
|
||
doi: 10.1055/a-1739-0462.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35472805" target="_blank">35472805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30060694">Intraocular lens implantation in children with unilateral congenital cataract in the first 4 years of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yangzes S,
|
||
Kaur S,
|
||
Gupta PC,
|
||
Sharma M,
|
||
Jinagal J,
|
||
Singh J,
|
||
Ram J</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2019 May;29(3):304-308.
|
||
Epub 2018 Jul 30
|
||
doi: 10.1177/1120672118790193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30060694" target="_blank">30060694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12776904">Persistent hyperplastic primary vitreous.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bari V,
|
||
Murad M</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2003 Apr;53(4):165-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12776904" target="_blank">12776904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9510656">Persistent hyperplastic primary vitreous in male twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu YS,
|
||
Chang BL</span><br />
|
||
<span class="medgenPMjournal">Korean J Ophthalmol</span>
|
||
1997 Dec;11(2):123-5.
|
||
doi: 10.3341/kjo.1997.11.2.123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9510656" target="_blank">9510656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6877777">Persistent hyperplastic primary vitreous. Surgical treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stark WJ,
|
||
Lindsey PS,
|
||
Fagadau WR,
|
||
Michels RG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1983 May;90(5):452-7.
|
||
doi: 10.1016/s0161-6420(83)34531-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6877777" target="_blank">6877777</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20hyperplastic%20primary%20vitreous%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 (77)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39443626">Histopathologic findings of the lens capsule and persistent hyperplastic primary vitreous in Korean pediatric cataract patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho CH,
|
||
Kim JY,
|
||
Kim WG,
|
||
Kim JY,
|
||
Kim HW,
|
||
Chun Y,
|
||
Kim WS,
|
||
Kim YM</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Oct 23;14(1):25105.
|
||
doi: 10.1038/s41598-024-76000-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39443626" target="_blank">39443626</a><a href="/pmc/articles/PMC11500107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36126641">Prenatal Ultrasound Diagnosis of Persistent Hyperplastic Primary Vitreous with Retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li TG,
|
||
Cao HB,
|
||
Gao XY,
|
||
She XN,
|
||
Xu SF,
|
||
Zhang Y,
|
||
Zhang D</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2022;49(7-8):306-310.
|
||
Epub 2022 Sep 20
|
||
doi: 10.1159/000527062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36126641" target="_blank">36126641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34963272">Pseudo-hyaloidal Stalk in Anterior Persistent Fetal Vasculature: A Report of Two Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Özdemir Zeydanlı E,
|
||
Tefon AB,
|
||
Atalay HT,
|
||
Özdek Ş</span><br />
|
||
<span class="medgenPMjournal">Turk J Ophthalmol</span>
|
||
2021 Dec 28;51(6):407-411.
|
||
doi: 10.4274/tjo.galenos.2021.12524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34963272" target="_blank">34963272</a><a href="/pmc/articles/PMC8715651" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34039153">The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirzayev I,
|
||
Gündüz AK,
|
||
Biçer Ö,
|
||
Tarlan B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2021 May-Jun;58(3):161-167.
|
||
Epub 2021 May 1
|
||
doi: 10.3928/01913913-20210108-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34039153" target="_blank">34039153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32677902">Atypical anterior persistent hyperplastic primary vitreous: report of a rare case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang J,
|
||
Yan H,
|
||
Du Z,
|
||
Zhang J,
|
||
Wang W,
|
||
Guo C</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2020 Jul 16;20(1):290.
|
||
doi: 10.1186/s12886-020-01539-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32677902" target="_blank">32677902</a><a href="/pmc/articles/PMC7364567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20hyperplastic%20primary%20vitreous%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 (54)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0266568%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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<li><a href="/gtr/tests?term=C0266568%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
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