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<meta name="keywords" content="C3152182, abnormal anterior chamber morphology, abnormality of the anterior chamber, anterior chamber abnormality, anterior chamber anomalies, anterior chamber anomaly, anterior segment anomalies, congenital abnormality, finding, ocular anterior chamber abnormality, 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="Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=463532
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ConceptID=C3152182
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal anterior chamber morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3152182</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Anterior segment anomalies</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Anterior chamber anomalies (204142009)</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:0000593">HP:0000593</a></td></tr>
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</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_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">Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormal anterior chamber morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870894" ref="tree=MeSH" title="MedGen record for Abnormal anterior eye segment morphology">Abnormal anterior eye segment morphology</a></span><ul><li><span class="matched_ds">Abnormal anterior chamber morphology</span><ul><li><span class="TLline"><a href="/medgen/868420" ref="tree=MeSH" title="MedGen record for Abnormal trabecular meshwork morphology">Abnormal trabecular meshwork morphology</a></span><ul><li><span class="TLline"><a href="/medgen/812229" ref="tree=MeSH" title="MedGen record for Pigment deposition in the trabecular meshwork">Pigment deposition in the trabecular meshwork</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82862" ref="tree=MeSH" title="MedGen record for Absent anterior chamber of the eye">Absent anterior chamber of the eye</a></span></li><li><span class="TLline"><a href="/medgen/602221" ref="tree=MeSH" title="MedGen record for Anterior chamber cells">Anterior chamber cells</a></span><ul><li><span class="TLline"><a href="/medgen/1634608" ref="tree=MeSH" title="MedGen record for Anterior chamber cells grade 0.5+">Anterior chamber cells grade 0.5+</a></span></li><li><span class="TLline"><a href="/medgen/1647895" ref="tree=MeSH" title="MedGen record for Anterior chamber cells grade 0">Anterior chamber cells grade 0</a></span></li><li><span class="TLline"><a href="/medgen/1635711" ref="tree=MeSH" title="MedGen record for Anterior chamber cells grade 1+">Anterior chamber cells grade 1+</a></span></li><li><span class="TLline"><a href="/medgen/1634712" ref="tree=MeSH" title="MedGen record for Anterior chamber cells grade 2+">Anterior chamber cells grade 2+</a></span></li><li><span class="TLline"><a href="/medgen/1642954" ref="tree=MeSH" title="MedGen record for Anterior chamber cells grade 3+">Anterior chamber cells grade 3+</a></span></li><li><span class="TLline"><a href="/medgen/1638530" ref="tree=MeSH" title="MedGen record for Anterior chamber cells grade 4+">Anterior chamber cells grade 4+</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/543182" ref="tree=MeSH" title="MedGen record for Anterior chamber cyst">Anterior chamber cyst</a></span></li><li><span class="TLline"><a href="/medgen/602220" ref="tree=MeSH" title="MedGen record for Anterior chamber flare">Anterior chamber flare</a></span><ul><li><span class="TLline"><a href="/medgen/1633105" ref="tree=MeSH" title="MedGen record for Anterior chamber flare grade 1+">Anterior chamber flare grade 1+</a></span></li><li><span class="TLline"><a href="/medgen/1635954" ref="tree=MeSH" title="MedGen record for Anterior chamber flare grade 2+">Anterior chamber flare grade 2+</a></span></li><li><span class="TLline"><a href="/medgen/1647939" ref="tree=MeSH" title="MedGen record for Anterior chamber flare grade 3+">Anterior chamber flare grade 3+</a></span></li><li><span class="TLline"><a href="/medgen/1632742" ref="tree=MeSH" title="MedGen record for Anterior chamber flare grade 4+">Anterior chamber flare grade 4+</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1636773" ref="tree=MeSH" title="MedGen record for Anterior chamber inflammatory cells">Anterior chamber inflammatory cells</a></span></li><li><span class="TLline"><a href="/medgen/1641372" ref="tree=MeSH" title="MedGen record for Anterior chamber red blood cells">Anterior chamber red blood cells</a></span></li><li><span class="TLline"><a href="/medgen/870344" ref="tree=MeSH" title="MedGen record for Anterior chamber synechiae">Anterior chamber synechiae</a></span><ul><li><span class="TLline"><a href="/medgen/488783" ref="tree=MeSH" title="MedGen record for Anterior synechiae of the anterior chamber">Anterior synechiae of the anterior chamber</a></span></li><li><span class="TLline"><a href="/medgen/488784" ref="tree=MeSH" title="MedGen record for Posterior synechiae of the anterior chamber">Posterior synechiae of the anterior chamber</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868923" ref="tree=MeSH" title="MedGen record for Corneolenticular adhesion">Corneolenticular adhesion</a></span></li><li><span class="TLline"><a href="/medgen/602219" ref="tree=MeSH" title="MedGen record for Deep anterior chamber">Deep anterior chamber</a></span></li><li><span class="TLline"><a href="/medgen/43802" ref="tree=MeSH" title="MedGen record for Hypopyon">Hypopyon</a></span></li><li><span class="TLline"><a href="/medgen/602215" ref="tree=MeSH" title="MedGen record for Shallow anterior chamber">Shallow anterior chamber</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_112">
|
||
<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_167100"><div><strong>3MC syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167100</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.">C0796059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC Syndrome Also see 3MC syndrome-2 (3MC2; 265050), caused by mutation in the COLEC11 gene (612502), and 3MC syndrome-3 (3MC3; 248340), caused by mutation in the COLEC1 gene (607620).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167100">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356497"><div><strong>Ehlers-Danlos syndrome, musculocontractural type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356497</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.">C1866294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_365434"><div><strong>Alagille syndrome due to a JAG1 point mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>365434</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.">C1956125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/365434">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3MC syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_365434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alagille syndrome due to a JAG1 point mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, musculocontractural type</a></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/39647568">Clinical Classification and Management Outcomes of Anterior Segment-Dominated Persistent Fetal Vasculature: The CCPMOH Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen H,
|
||
Chen W,
|
||
Zhou F,
|
||
Luo C,
|
||
Lin Z,
|
||
Li X,
|
||
Lin Y,
|
||
Lin H,
|
||
Chen W</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2025 Mar;271:316-328.
|
||
Epub 2024 Dec 7
|
||
doi: 10.1016/j.ajo.2024.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39647568" target="_blank">39647568</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18937825">Aniridia: current pathology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee H,
|
||
Khan R,
|
||
O'Keefe M</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2008 Nov;86(7):708-15.
|
||
Epub 2008 Oct 6
|
||
doi: 10.1111/j.1755-3768.2008.01427.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18937825" target="_blank">18937825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5114444">Aphakic flat anterior chamber. Treatment by anterior vitriotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cotlier E,
|
||
Herman S</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1971 Nov;86(5):507-16.
|
||
doi: 10.1001/archopht.1971.01000010508005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5114444" target="_blank">5114444</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20anterior%20chamber%20morphology)%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 (19)</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/37866106">The role of the microbiota in glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang L,
|
||
Hong Y,
|
||
Fu X,
|
||
Tan H,
|
||
Chen Y,
|
||
Wang Y,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">Mol Aspects Med</span>
|
||
2023 Dec;94:101221.
|
||
Epub 2023 Oct 21
|
||
doi: 10.1016/j.mam.2023.101221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37866106" target="_blank">37866106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30120980">Functional role of peroxiredoxin 6 in the eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wahlig S,
|
||
Lovatt M,
|
||
Mehta JS</span><br />
|
||
<span class="medgenPMjournal">Free Radic Biol Med</span>
|
||
2018 Oct;126:210-220.
|
||
Epub 2018 Aug 16
|
||
doi: 10.1016/j.freeradbiomed.2018.08.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30120980" target="_blank">30120980</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29539291">Injection of Cultured Cells with a ROCK Inhibitor for Bullous Keratopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita S,
|
||
Koizumi N,
|
||
Ueno M,
|
||
Okumura N,
|
||
Imai K,
|
||
Tanaka H,
|
||
Yamamoto Y,
|
||
Nakamura T,
|
||
Inatomi T,
|
||
Bush J,
|
||
Toda M,
|
||
Hagiya M,
|
||
Yokota I,
|
||
Teramukai S,
|
||
Sotozono C,
|
||
Hamuro J</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2018 Mar 15;378(11):995-1003.
|
||
doi: 10.1056/NEJMoa1712770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29539291" target="_blank">29539291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27221687">Scleral tunnel phacoemulsification: Approach for eyes with severe microcornea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khokhar S,
|
||
Gupta S,
|
||
Tewari R,
|
||
Agarwal R,
|
||
Gogia V,
|
||
Sinha G,
|
||
Agarwal T</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2016 Apr;64(4):320-2.
|
||
doi: 10.4103/0301-4738.182949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27221687" target="_blank">27221687</a><a href="/pmc/articles/PMC4901853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9253989">Autosomal recessive nanophthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altintaş AK,
|
||
Acar MA,
|
||
Yalvaç IS,
|
||
Koçak I,
|
||
Nurözler A,
|
||
Duman S</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
|
||
1997 Jun;75(3):325-8.
|
||
doi: 10.1111/j.1600-0420.1997.tb00788.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9253989" target="_blank">9253989</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20anterior%20chamber%20morphology%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 (352)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37866106">The role of the microbiota in glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang L,
|
||
Hong Y,
|
||
Fu X,
|
||
Tan H,
|
||
Chen Y,
|
||
Wang Y,
|
||
Chen D</span><br />
|
||
<span class="medgenPMjournal">Mol Aspects Med</span>
|
||
2023 Dec;94:101221.
|
||
Epub 2023 Oct 21
|
||
doi: 10.1016/j.mam.2023.101221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37866106" target="_blank">37866106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32774120">Inflammatory and angiogenic biomarkers in diabetic retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaštelan S,
|
||
Orešković I,
|
||
Bišćan F,
|
||
Kaštelan H,
|
||
Gverović Antunica A</span><br />
|
||
<span class="medgenPMjournal">Biochem Med (Zagreb)</span>
|
||
2020 Oct 15;30(3):030502.
|
||
Epub 2020 Aug 5
|
||
doi: 10.11613/BM.2020.030502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32774120" target="_blank">32774120</a><a href="/pmc/articles/PMC7394255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29539291">Injection of Cultured Cells with a ROCK Inhibitor for Bullous Keratopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita S,
|
||
Koizumi N,
|
||
Ueno M,
|
||
Okumura N,
|
||
Imai K,
|
||
Tanaka H,
|
||
Yamamoto Y,
|
||
Nakamura T,
|
||
Inatomi T,
|
||
Bush J,
|
||
Toda M,
|
||
Hagiya M,
|
||
Yokota I,
|
||
Teramukai S,
|
||
Sotozono C,
|
||
Hamuro J</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2018 Mar 15;378(11):995-1003.
|
||
doi: 10.1056/NEJMoa1712770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29539291" target="_blank">29539291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29122822">Posterior keratoconus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silas MR,
|
||
Hilkert SM,
|
||
Reidy JJ,
|
||
Farooq AV</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2018 Jul;102(7):863-867.
|
||
Epub 2017 Nov 9
|
||
doi: 10.1136/bjophthalmol-2017-311097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29122822" target="_blank">29122822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17070491">Walker-Warburg Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalaf SS,
|
||
Tareef RB</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2006 Oct;10(5):486-8.
|
||
doi: 10.1016/j.jaapos.2006.06.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17070491" target="_blank">17070491</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20anterior%20chamber%20morphology%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 (434)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39023318">Descemet Membrane Endothelial Keratoplasty in Aphakic, Aniridic, and Vitrectomized Eyes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano D,
|
||
Shimizu T,
|
||
Kobayashi A,
|
||
Yamagami S,
|
||
Romano V,
|
||
Hayashi T</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2024 Nov 1;43(11):1448-1455.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1097/ICO.0000000000003630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39023318" target="_blank">39023318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29539291">Injection of Cultured Cells with a ROCK Inhibitor for Bullous Keratopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita S,
|
||
Koizumi N,
|
||
Ueno M,
|
||
Okumura N,
|
||
Imai K,
|
||
Tanaka H,
|
||
Yamamoto Y,
|
||
Nakamura T,
|
||
Inatomi T,
|
||
Bush J,
|
||
Toda M,
|
||
Hagiya M,
|
||
Yokota I,
|
||
Teramukai S,
|
||
Sotozono C,
|
||
Hamuro J</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2018 Mar 15;378(11):995-1003.
|
||
doi: 10.1056/NEJMoa1712770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29539291" target="_blank">29539291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21666320">Unusual presentation in Axenfeld-Rieger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parikh RS,
|
||
Parikh SR,
|
||
Debashish B,
|
||
Harsha BL,
|
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Thomas R</span><br />
|
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<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
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2011 Jul-Aug;59(4):312-4.
|
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doi: 10.4103/0301-4738.82003.
|
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<span class="bold">PMID: </span><a href="/pubmed/21666320" target="_blank">21666320</a><a href="/pmc/articles/PMC3129760" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15652855">Calotropis procera (ushaar) keratitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Mezaine HS,
|
||
Al-Rajhi AA,
|
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Al-Assiri A,
|
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Wagoner MD</span><br />
|
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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2005 Jan;139(1):199-202.
|
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doi: 10.1016/j.ajo.2004.07.062.
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<span class="bold">PMID: </span><a href="/pubmed/15652855" target="_blank">15652855</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/4920781">The lens and vitreous.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Freeman HM</span><br />
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1970 Nov;84(5):675-89.
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<span class="bold">PMID: </span><a href="/pubmed/4920781" target="_blank">4920781</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20anterior%20chamber%20morphology%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 (147)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29408830">Selective Endothelial Removal for Peters Anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soh YQ,
|
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Mehta JS</span><br />
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<span class="medgenPMjournal">Cornea</span>
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2018 Mar;37(3):382-385.
|
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doi: 10.1097/ICO.0000000000001472.
|
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<span class="bold">PMID: </span><a href="/pubmed/29408830" target="_blank">29408830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27221687">Scleral tunnel phacoemulsification: Approach for eyes with severe microcornea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khokhar S,
|
||
Gupta S,
|
||
Tewari R,
|
||
Agarwal R,
|
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Gogia V,
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Sinha G,
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Agarwal T</span><br />
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<span class="medgenPMjournal">Indian J Ophthalmol</span>
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2016 Apr;64(4):320-2.
|
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doi: 10.4103/0301-4738.182949.
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<span class="bold">PMID: </span><a href="/pubmed/27221687" target="_blank">27221687</a><a href="/pmc/articles/PMC4901853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/17070491">Walker-Warburg Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalaf SS,
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Tareef RB</span><br />
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<span class="medgenPMjournal">J AAPOS</span>
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2006 Oct;10(5):486-8.
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doi: 10.1016/j.jaapos.2006.06.016.
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<span class="bold">PMID: </span><a href="/pubmed/17070491" target="_blank">17070491</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9253989">Autosomal recessive nanophthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altintaş AK,
|
||
Acar MA,
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Yalvaç IS,
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Koçak I,
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Nurözler A,
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Duman S</span><br />
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<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
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1997 Jun;75(3):325-8.
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doi: 10.1111/j.1600-0420.1997.tb00788.x.
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<span class="bold">PMID: </span><a href="/pubmed/9253989" target="_blank">9253989</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/10740699">Hallerman-Streiff syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicholson AD,
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<span class="medgenPMjournal">J Postgrad Med</span>
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1995 Jan-Mar;41(1):22-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/10740699" target="_blank">10740699</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20anterior%20chamber%20morphology%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 (190)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26658452">Lymphatic endothelial lineage assemblage during corneal lymphangiogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Connor AL,
|
||
Kelley PM,
|
||
Tempero RM</span><br />
|
||
<span class="medgenPMjournal">Lab Invest</span>
|
||
2016 Mar;96(3):270-82.
|
||
Epub 2015 Dec 14
|
||
doi: 10.1038/labinvest.2015.147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26658452" target="_blank">26658452</a><a href="/pmc/articles/PMC4767586" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15097138">Mumps-induced corneal endotheliitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh K,
|
||
Sodhi PK</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2004 May;23(4):400-2.
|
||
doi: 10.1097/00003226-200405000-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15097138" target="_blank">15097138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7795607">Linkage of posterior polymorphous corneal dystrophy to 20q11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Héon E,
|
||
Mathers WD,
|
||
Alward WL,
|
||
Weisenthal RW,
|
||
Sunden SL,
|
||
Fishbaugh JA,
|
||
Taylor CM,
|
||
Krachmer JH,
|
||
Sheffield VC,
|
||
Stone EM</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
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1995 Mar;4(3):485-8.
|
||
doi: 10.1093/hmg/4.3.485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7795607" target="_blank">7795607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3328916">A common pathway for developmental glaucomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shields MB</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1987;85:222-37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3328916" target="_blank">3328916</a><a href="/pmc/articles/PMC1298775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6477252">Anatomical classification of the developmental glaucomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoskins HD Jr,
|
||
Shaffer RN,
|
||
Hetherington J</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1984 Sep;102(9):1331-6.
|
||
doi: 10.1001/archopht.1984.01040031081030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6477252" target="_blank">6477252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20anterior%20chamber%20morphology%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 (259)</a></div></div>
|
||
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/38360631">Influencing factors comparing different vault groups after phakic implantable collamer lens implantation: review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang P,
|
||
Guo C,
|
||
Wang S,
|
||
Jiang W,
|
||
Wang D,
|
||
Yan H</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2024 Feb 15;24(1):70.
|
||
doi: 10.1186/s12886-024-03325-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38360631" target="_blank">38360631</a><a href="/pmc/articles/PMC10870571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20anterior%20chamber%20morphology%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>
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