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<meta name="keywords" content="C4025846, abnormality of sight, abnormality of vision, finding, vision issue, 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 eyesight (visual perception)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=871352
|
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ConceptID=C4025846
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of vision</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871352</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:">C4025846</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of sight; Vision issue</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:0000504">HP:0000504</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Abnormality of eyesight (visual perception). [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">Abnormality of vision</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/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="matched_ds">Abnormality of vision</span><ul><li><span class="TLline"><a href="/medgen/1841587" ref="tree=MeSH" title="MedGen record for Abnormal blink rate">Abnormal blink rate</a></span><ul><li><span class="TLline"><a href="/medgen/1841689" ref="tree=MeSH" title="MedGen record for Decreased blink rate">Decreased blink rate</a></span></li><li><span class="TLline"><a href="/medgen/1841735" ref="tree=MeSH" title="MedGen record for Elevated blink rate">Elevated blink rate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868909" ref="tree=MeSH" title="MedGen record for Abnormality of binocular vision">Abnormality of binocular vision</a></span><ul><li><span class="TLline"><a href="/medgen/868908" ref="tree=MeSH" title="MedGen record for Abnormal stereopsis">Abnormal stereopsis</a></span></li><li><span class="TLline"><a href="/medgen/41600" ref="tree=MeSH" title="MedGen record for Diplopia">Diplopia</a></span><ul><li><span class="TLline"><a href="/medgen/601962" ref="tree=MeSH" title="MedGen record for Binocular diplopia">Binocular diplopia</a></span></li><li><span class="TLline"><a href="/medgen/124389" ref="tree=MeSH" title="MedGen record for Monocular diplopia">Monocular diplopia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/57702" ref="tree=MeSH" title="MedGen record for Amaurosis fugax">Amaurosis fugax</a></span></li><li><span class="TLline"><a href="/medgen/91020" ref="tree=MeSH" title="MedGen record for Blurred vision">Blurred vision</a></span><ul><li><span class="TLline"><a href="/medgen/356249" ref="tree=MeSH" title="MedGen record for Transient unilateral blurring of vision">Transient unilateral blurring of vision</a></span></li><li><span class="TLline"><a href="/medgen/78760" ref="tree=MeSH" title="MedGen record for Visual halos">Visual halos</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/331206" ref="tree=MeSH" title="MedGen record for Bradyopsia">Bradyopsia</a></span><ul><li><span class="TLline"><a href="/medgen/1840510" ref="tree=MeSH" title="MedGen record for Prolonged electroretinal response suppression 1">Prolonged electroretinal response suppression 1</a></span></li><li><span class="TLline"><a href="/medgen/1841088" ref="tree=MeSH" title="MedGen record for Prolonged electroretinal response suppression 2">Prolonged electroretinal response suppression 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/115964" ref="tree=MeSH" title="MedGen record for Color vision defect">Color vision defect</a></span><ul><li><span class="TLline"><a href="/medgen/892617" ref="tree=MeSH" title="MedGen record for Color vision test abnormality">Color vision test abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893019" ref="tree=MeSH" title="MedGen record for Abnormal Hardy-Rand-Rittler plate test">Abnormal Hardy-Rand-Rittler plate test</a></span></li><li><span class="TLline"><a href="/medgen/892574" ref="tree=MeSH" title="MedGen record for Abnormal Ishihara plate test">Abnormal Ishihara plate test</a></span></li><li><span class="TLline"><a href="/medgen/892768" ref="tree=MeSH" title="MedGen record for Red desaturation">Red desaturation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163559" ref="tree=MeSH" title="MedGen record for Dyschromatopsia">Dyschromatopsia</a></span><ul><li><span class="TLline"><a href="/medgen/868905" ref="tree=MeSH" title="MedGen record for Anomalous trichromacy">Anomalous trichromacy</a></span></li><li><span class="TLline"><a href="/medgen/868906" ref="tree=MeSH" title="MedGen record for Dichromacy">Dichromacy</a></span></li><li><span class="TLline"><a href="/medgen/102324" ref="tree=MeSH" title="MedGen record for Red-green dyschromatopsia">Red-green dyschromatopsia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684677" ref="tree=MeSH" title="MedGen record for Monochromacy">Monochromacy</a></span><ul><li><span class="TLline"><a href="/medgen/57751" ref="tree=MeSH" title="MedGen record for Achromatopsia">Achromatopsia</a></span></li><li><span class="TLline"><a href="/medgen/868907" ref="tree=MeSH" title="MedGen record for Cone monochromacy">Cone monochromacy</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892524" ref="tree=MeSH" title="MedGen record for Difficulty adjusting to changes in luminance">Difficulty adjusting to changes in luminance</a></span><ul><li><span class="TLline"><a href="/medgen/892586" ref="tree=MeSH" title="MedGen record for Difficulty adjusting from dark to light">Difficulty adjusting from dark to light</a></span></li><li><span class="TLline"><a href="/medgen/892631" ref="tree=MeSH" title="MedGen record for Difficulty adjusting from light to dark">Difficulty adjusting from light to dark</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/53032" ref="tree=MeSH" title="MedGen record for Entoptic phenomenon">Entoptic phenomenon</a></span></li><li><span class="TLline"><a href="/medgen/42391" ref="tree=MeSH" title="MedGen record for Hemeralopia">Hemeralopia</a></span></li><li><span class="TLline"><a href="/medgen/75739" ref="tree=MeSH" title="MedGen record for Metamorphopsia">Metamorphopsia</a></span></li><li><span class="TLline"><a href="/medgen/10349" ref="tree=MeSH" title="MedGen record for Night blindness">Night blindness</a></span><ul><li><span class="TLline"><a href="/medgen/870346" ref="tree=MeSH" title="MedGen record for Adult-onset night blindness">Adult-onset night blindness</a></span></li><li><span class="TLline"><a href="/medgen/83289" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness">Congenital stationary night blindness</a></span><ul><li><span class="TLline"><a href="/medgen/342484" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness 1B">Congenital stationary night blindness 1B</a></span></li><li><span class="TLline"><a href="/medgen/416373" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness 1C">Congenital stationary night blindness 1C</a></span></li><li><span class="TLline"><a href="/medgen/892660" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness with abnormal fundus">Congenital stationary night blindness with abnormal fundus</a></span></li><li><span class="TLline"><a href="/medgen/892940" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness with normal fundus">Congenital stationary night blindness with normal fundus</a></span></li><li><span class="TLline"><a href="/medgen/448009" ref="tree=MeSH" title="MedGen record for X-linked congenital stationary night blindness">X-linked congenital stationary night blindness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870373" ref="tree=MeSH" title="MedGen record for Progressive night blindness">Progressive night blindness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98389" ref="tree=MeSH" title="MedGen record for Oscillopsia">Oscillopsia</a></span></li><li><span class="TLline"><a href="/medgen/43219" ref="tree=MeSH" title="MedGen record for Photopsia">Photopsia</a></span></li><li><span class="TLline"><a href="/medgen/1368430" ref="tree=MeSH" title="MedGen record for Poor visual behavior for age">Poor visual behavior for age</a></span></li><li><span class="TLline"><a href="/medgen/1671089" ref="tree=MeSH" title="MedGen record for Reduced contrast sensitivity">Reduced contrast sensitivity</a></span><ul><li><span class="TLline"><a href="/medgen/1700432" ref="tree=MeSH" title="MedGen record for Abnormal Pelli Robson contrast sensitivity chart test">Abnormal Pelli Robson contrast sensitivity chart test</a></span></li><li><span class="TLline"><a href="/medgen/1707190" ref="tree=MeSH" title="MedGen record for Abnormal Vistech contrast sensitivity test">Abnormal Vistech contrast sensitivity test</a></span></li><li><span class="TLline"><a href="/medgen/1705374" ref="tree=MeSH" title="MedGen record for Mildly reduced contrast sensitivity">Mildly reduced contrast sensitivity</a></span></li><li><span class="TLline"><a href="/medgen/1698820" ref="tree=MeSH" title="MedGen record for Moderately reduced contrast sensitivity">Moderately reduced contrast sensitivity</a></span></li><li><span class="TLline"><a href="/medgen/1687167" ref="tree=MeSH" title="MedGen record for Severely reduced contrast sensitivity">Severely reduced contrast sensitivity</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/777085" ref="tree=MeSH" title="MedGen record for Visual impairment">Visual impairment</a></span><ul><li><span class="TLline"><a href="/medgen/890568" ref="tree=MeSH" title="MedGen record for Cerebral visual impairment">Cerebral visual impairment</a></span></li><li><span class="TLline"><a href="/medgen/44558" ref="tree=MeSH" title="MedGen record for Myopia">Myopia</a></span><ul><li><span class="TLline"><a href="/medgen/730761" ref="tree=MeSH" title="MedGen record for Axial myopia">Axial myopia</a></span></li><li><span class="TLline"><a href="/medgen/57597" ref="tree=MeSH" title="MedGen record for Degenerative myopia">Degenerative myopia</a></span></li><li><span class="TLline"><a href="/medgen/78759" ref="tree=MeSH" title="MedGen record for High myopia">High myopia</a></span></li><li><span class="TLline"><a href="/medgen/1641241" ref="tree=MeSH" title="MedGen record for Latent myopia">Latent myopia</a></span></li><li><span class="TLline"><a href="/medgen/326743" ref="tree=MeSH" title="MedGen record for Mild myopia">Mild myopia</a></span></li><li><span class="TLline"><a href="/medgen/939834" ref="tree=MeSH" title="MedGen record for Moderate myopia">Moderate myopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65889" ref="tree=MeSH" title="MedGen record for Reduced visual acuity">Reduced visual acuity</a></span><ul><li><span class="TLline"><a href="/medgen/8009" ref="tree=MeSH" title="MedGen record for Amblyopia">Amblyopia</a></span></li><li><span class="TLline"><a href="/medgen/99138" ref="tree=MeSH" title="MedGen record for Blindness">Blindness</a></span></li><li><span class="TLline"><a href="/medgen/858998" ref="tree=MeSH" title="MedGen record for Decreased Best Corrected Visual Acuity">Decreased Best Corrected Visual Acuity</a></span></li><li><span class="TLline"><a href="/medgen/858996" ref="tree=MeSH" title="MedGen record for Decreased Uncorrected Visual Acuity">Decreased Uncorrected Visual Acuity</a></span></li><li><span class="TLline"><a href="/medgen/858995" ref="tree=MeSH" title="MedGen record for Decreased Visual Acuity with Current Correction">Decreased Visual Acuity with Current Correction</a></span></li><li><span class="TLline"><a href="/medgen/1671080" ref="tree=MeSH" title="MedGen record for Mildly reduced visual acuity">Mildly reduced visual acuity</a></span></li><li><span class="TLline"><a href="/medgen/723196" ref="tree=MeSH" title="MedGen record for Moderately reduced visual acuity">Moderately reduced visual acuity</a></span></li><li><span class="TLline"><a href="/medgen/226987" ref="tree=MeSH" title="MedGen record for Severely reduced visual acuity">Severely reduced visual acuity</a></span></li><li><span class="TLline"><a href="/medgen/893113" ref="tree=MeSH" title="MedGen record for Sudden loss of visual acuity">Sudden loss of visual acuity</a></span></li><li><span class="TLline"><a href="/medgen/1685679" ref="tree=MeSH" title="MedGen record for Ultra-low vision">Ultra-low vision</a></span></li><li><span class="TLline"><a href="/medgen/1686367" ref="tree=MeSH" title="MedGen record for Very low visual acuity">Very low visual acuity</a></span></li><li><span class="TLline"><a href="/medgen/893125" ref="tree=MeSH" title="MedGen record for Visual acuity test abnormality">Visual acuity test abnormality</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/854603" ref="tree=MeSH" title="MedGen record for Visual field defect">Visual field defect</a></span><ul><li><span class="TLline"><a href="/medgen/892483" ref="tree=MeSH" title="MedGen record for Abnormal visual field test">Abnormal visual field test</a></span></li><li><span class="TLline"><a href="/medgen/892955" ref="tree=MeSH" title="MedGen record for Altitudinal visual field defect">Altitudinal visual field defect</a></span></li><li><span class="TLline"><a href="/medgen/508920" ref="tree=MeSH" title="MedGen record for Blind-spot enlargement">Blind-spot enlargement</a></span></li><li><span class="TLline"><a href="/medgen/856667" ref="tree=MeSH" title="MedGen record for Central Visual Field Defect">Central Visual Field Defect</a></span></li><li><span class="TLline"><a href="/medgen/859095" ref="tree=MeSH" title="MedGen record for Congruent Visual Field Defect">Congruent Visual Field Defect</a></span></li><li><span class="TLline"><a href="/medgen/68613" ref="tree=MeSH" title="MedGen record for Constriction of peripheral visual field">Constriction of peripheral visual field</a></span></li><li><span class="TLline"><a href="/medgen/224881" ref="tree=MeSH" title="MedGen record for Glaucomatous visual field defect">Glaucomatous visual field defect</a></span></li><li><span class="TLline"><a href="/medgen/9193" ref="tree=MeSH" title="MedGen record for Hemianopia">Hemianopia</a></span></li><li><span class="TLline"><a href="/medgen/856582" ref="tree=MeSH" title="MedGen record for Heteronymous Visual Field Defect">Heteronymous Visual Field Defect</a></span></li><li><span class="TLline"><a href="/medgen/858474" ref="tree=MeSH" title="MedGen record for Homonymous Visual Field Defect">Homonymous Visual Field Defect</a></span></li><li><span class="TLline"><a href="/medgen/858367" ref="tree=MeSH" title="MedGen record for Incongruent Visual Field Defect">Incongruent Visual Field Defect</a></span></li><li><span class="TLline"><a href="/medgen/871312" ref="tree=MeSH" title="MedGen record for Large central visual field defect">Large central visual field defect</a></span></li><li><span class="TLline"><a href="/medgen/543218" ref="tree=MeSH" title="MedGen record for Peripheral visual field defect">Peripheral visual field defect</a></span></li><li><span class="TLline"><a href="/medgen/870317" ref="tree=MeSH" title="MedGen record for Progressive visual field defects">Progressive visual field defects</a></span></li><li><span class="TLline"><a href="/medgen/19902" ref="tree=MeSH" title="MedGen record for Scotoma">Scotoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/784038" ref="tree=MeSH" title="MedGen record for Visual loss">Visual loss</a></span><ul><li><span class="TLline"><a href="/medgen/892327" ref="tree=MeSH" title="MedGen record for Nonprogressive visual loss">Nonprogressive visual loss</a></span></li><li><span class="TLline"><a href="/medgen/326867" ref="tree=MeSH" title="MedGen record for Progressive visual loss">Progressive visual loss</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_75520"><div><strong>Keratosis pilaris atrophicans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75520</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.">C0263428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75520">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324897"><div><strong>Autosomal recessive nonsyndromic hearing loss 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324897</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.">C1837857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/324897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_369356"><div><strong>Microphthalmia, isolated, with coloboma 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369356</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.">C1968843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369356">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781649"><div><strong>Kohlschutter-Tonz syndrome-like</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781649</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.">C5543202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781649">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive nonsyndromic hearing loss 35</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis pilaris atrophicans</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kohlschutter-Tonz syndrome-like</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, isolated, with coloboma 5</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/38301969">Central serous chorioretinopathy: An evidence-based treatment guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feenstra HMA,
|
||
van Dijk EHC,
|
||
Cheung CMG,
|
||
Ohno-Matsui K,
|
||
Lai TYY,
|
||
Koizumi H,
|
||
Larsen M,
|
||
Querques G,
|
||
Downes SM,
|
||
Yzer S,
|
||
Breazzano MP,
|
||
Subhi Y,
|
||
Tadayoni R,
|
||
Priglinger SG,
|
||
Pauleikhoff LJB,
|
||
Lange CAK,
|
||
Loewenstein A,
|
||
Diederen RMH,
|
||
Schlingemann RO,
|
||
Hoyng CB,
|
||
Chhablani JK,
|
||
Holz FG,
|
||
Sivaprasad S,
|
||
Lotery AJ,
|
||
Yannuzzi LA,
|
||
Freund KB,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2024 Jul;101:101236.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.preteyeres.2024.101236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38301969" target="_blank">38301969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36050779">Hydrocephalus: historical analysis and considerations for treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hochstetler A,
|
||
Raskin J,
|
||
Blazer-Yost BL</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Res</span>
|
||
2022 Sep 1;27(1):168.
|
||
doi: 10.1186/s40001-022-00798-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36050779" target="_blank">36050779</a><a href="/pmc/articles/PMC9434947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28736343">TFOS DEWS II Management and Therapy Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones L,
|
||
Downie LE,
|
||
Korb D,
|
||
Benitez-Del-Castillo JM,
|
||
Dana R,
|
||
Deng SX,
|
||
Dong PN,
|
||
Geerling G,
|
||
Hida RY,
|
||
Liu Y,
|
||
Seo KY,
|
||
Tauber J,
|
||
Wakamatsu TH,
|
||
Xu J,
|
||
Wolffsohn JS,
|
||
Craig JP</span><br />
|
||
<span class="medgenPMjournal">Ocul Surf</span>
|
||
2017 Jul;15(3):575-628.
|
||
Epub 2017 Jul 20
|
||
doi: 10.1016/j.jtos.2017.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28736343" target="_blank">28736343</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20vision)%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 (439)</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/38618955">Capillary malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammill AM,
|
||
Boscolo E</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2024 Apr 15;134(8)
|
||
doi: 10.1172/JCI172842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38618955" target="_blank">38618955</a><a href="/pmc/articles/PMC11014659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34107689">DRY EYE DISEASE. A REVIEW.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zemanová M</span><br />
|
||
<span class="medgenPMjournal">Cesk Slov Oftalmol</span>
|
||
2021 Winter;77(3):107–119.
|
||
doi: 10.31348/2020/29.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34107689" target="_blank">34107689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27533644">RETINAL ARTERIOVENOUS MALFORMATION.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patel KH,
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Kalevar A,
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McDonald HR,
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Johnson RN</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27533644" target="_blank">27533644</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27378455">Congenital optic nerve anomalies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martín-Begué N,
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2016 Dec;91(12):577-588.
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<span class="bold">PMID: </span><a href="/pubmed/27378455" target="_blank">27378455</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20443647">Ocular adverse effects of common psychotropic agents: a review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Richa S,
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2015 Apr;62(2):367-84.
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<div class="nl"><a target="_blank" href="/pubmed/15179068">Idiopathic intracranial hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Friedman DI,
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<div class="nl"><a target="_blank" href="/pubmed/4329269">Neuro-ophthalmology.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35731355">Analysis of perioperative problems related to intraocular Implantable Collamer Lens (ICL) implantation.</a></div>
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Gong R,
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<div class="nl"><a target="_blank" href="/pubmed/31420094">Current Landscape of Treatments for Wolfram Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abreu D,
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<div class="nl"><a target="_blank" href="/pubmed/20443647">Ocular adverse effects of common psychotropic agents: a review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Richa S,
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Yazbek JC</span><br />
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<span class="medgenPMjournal">CNS Drugs</span>
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2010 Jun;24(6):501-26.
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<span class="bold">PMID: </span><a href="/pubmed/20443647" target="_blank">20443647</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15179068">Idiopathic intracranial hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Friedman DI,
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Jacobson DM</span><br />
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<span class="medgenPMjournal">J Neuroophthalmol</span>
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2004 Jun;24(2):138-45.
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doi: 10.1097/00041327-200406000-00009.
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<span class="bold">PMID: </span><a href="/pubmed/15179068" target="_blank">15179068</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4329269">Neuro-ophthalmology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thompson HS</span><br />
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<span class="medgenPMjournal">Arch Ophthalmol</span>
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1971 Oct;86(4):462-82.
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<span class="bold">PMID: </span><a href="/pubmed/4329269" target="_blank">4329269</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20vision%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 (2357)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35731355">Analysis of perioperative problems related to intraocular Implantable Collamer Lens (ICL) implantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
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Gong R,
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Zhang X,
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Deng Y</span><br />
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<span class="medgenPMjournal">Int Ophthalmol</span>
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2022 Nov;42(11):3625-3641.
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Epub 2022 Jun 22
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doi: 10.1007/s10792-022-02355-w.
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<span class="bold">PMID: </span><a href="/pubmed/35731355" target="_blank">35731355</a><a href="/pmc/articles/PMC9587946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28645220">Comparison of Emla cream and topical lidocaine tape for pain relief of V-beam laser treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Horikiri M,
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Ueda K,
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2018 Apr;52(2):94-96.
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<div class="nl"><a target="_blank" href="/pubmed/21141008">Alport syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Karki P,
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Shrestha JK</span><br />
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<span class="medgenPMjournal">Nepal J Ophthalmol</span>
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<span class="bold">PMID: </span><a href="/pubmed/21141008" target="_blank">21141008</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17651510">Anorectal malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Levitt MA,
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<div class="nl"><a target="_blank" href="/pubmed/15179068">Idiopathic intracranial hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Friedman DI,
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Jacobson DM</span><br />
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<span class="medgenPMjournal">J Neuroophthalmol</span>
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<span class="bold">PMID: </span><a href="/pubmed/15179068" target="_blank">15179068</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20vision%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 (2673)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35523467">Retinal neurodegeneration in patients with type 2 diabetes mellitus without diabetic retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ciprés M,
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Satue M,
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<span class="bold">PMID: </span><a href="/pubmed/35523467" target="_blank">35523467</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27533644">RETINAL ARTERIOVENOUS MALFORMATION.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patel KH,
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Kalevar A,
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McDonald HR,
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Johnson RN</span><br />
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<span class="medgenPMjournal">Retin Cases Brief Rep</span>
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<div class="nl"><a target="_blank" href="/pubmed/18039390">Anophthalmia and microphthalmia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17651510">Anorectal malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Levitt MA,
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<div class="nl"><a target="_blank" href="/pubmed/7158652">Psychophysical mechanisms in humans with amblyopia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Levi DM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20vision%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 (3404)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38154619">OCT Prognostic Biomarkers for Progression to Late Age-related Macular Degeneration: A Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Trinh M,
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Epub 2023 Dec 27
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<span class="bold">PMID: </span><a href="/pubmed/38154619" target="_blank">38154619</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37054911">TFOS Lifestyle: Impact of lifestyle challenges on the ocular surface.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Galor A,
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Britten-Jones AC,
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Feng Y,
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Ferrari G,
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Goldblum D,
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Gupta PK,
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Merayo-Lloves J,
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Na KS,
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Naroo SA,
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Nichols KK,
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Rocha EM,
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Tong L,
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Wang MTM,
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Craig JP</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37054911" target="_blank">37054911</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36815723">Prognostic factors for the development and progression of proliferative diabetic retinopathy in people with diabetic retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Perais J,
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Agarwal R,
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Evans JR,
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Loveman E,
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Colquitt JL,
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Owens D,
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Hogg RE,
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Lawrenson JG,
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Takwoingi Y,
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Lois N</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2023 Feb 22;2(2):CD013775.
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<span class="bold">PMID: </span><a href="/pubmed/36815723" target="_blank">36815723</a><a href="/pmc/articles/PMC9943918" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35099068">Management of hypertrophic scars in adults: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Choi C,
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Mukovozov I,
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Jazdarehee A,
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Rai R,
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Sachdeva M,
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Shunmugam M,
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Zaslavsky K,
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Byun S,
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<span class="medgenPMjournal">Australas J Dermatol</span>
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Epub 2022 Jan 31
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<span class="bold">PMID: </span><a href="/pubmed/35099068" target="_blank">35099068</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28295226">Lacosamide in status epilepticus: Systematic review of current evidence.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
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Zöllner JP,
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Willems LM,
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Jost J,
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Paule E,
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Schubert-Bast S,
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Rosenow F,
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<span class="medgenPMjournal">Epilepsia</span>
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<span class="bold">PMID: </span><a href="/pubmed/28295226" target="_blank">28295226</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20vision%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 (106)</a></div></div>
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||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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