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<!--
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||
UID=1370071
|
||
ConceptID=C4316870
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the eye</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370071</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.">C4316870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal eye; Eye disease</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:0000478">HP:0000478</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>
|
||
<div class="portlet_content ln">Any abnormality of the eye, including location, spacing, and intraocular abnormalities. [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 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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4316870[DISCUI]&test_type=Clinical" ref="ncbi_uid=1370071">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1370071" ref="ncbi_uid=1370071">V</a></span></span><span class="TLline">Abnormality of the eye</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="matched_ds">Abnormality of the eye</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="TLline"><a href="/medgen/463532" ref="tree=MeSH" title="MedGen record for Abnormal anterior chamber morphology">Abnormal anterior chamber morphology</a></span></li><li><span class="TLline"><a href="/medgen/383737" ref="tree=MeSH" title="MedGen record for Abnormal cornea morphology">Abnormal cornea morphology</a></span></li><li><span class="TLline"><a href="/medgen/892382" ref="tree=MeSH" title="MedGen record for Abnormal lens morphology">Abnormal lens morphology</a></span></li><li><span class="TLline"><a href="/medgen/866730" ref="tree=MeSH" title="MedGen record for Abnormal suspensory ligament of lens morphology">Abnormal suspensory ligament of lens morphology</a></span></li><li><span class="TLline"><a href="/medgen/871351" ref="tree=MeSH" title="MedGen record for Abnormality iris morphology">Abnormality iris morphology</a></span></li><li><span class="TLline"><a href="/medgen/350766" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis">Anterior segment dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/295775" ref="tree=MeSH" title="MedGen record for Limbal stem cell deficiency">Limbal stem cell deficiency</a></span></li><li><span class="TLline"><a href="/medgen/868421" ref="tree=MeSH" title="MedGen record for Pseudoexfoliation">Pseudoexfoliation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span></li><li><span class="TLline"><a href="/medgen/892543" ref="tree=MeSH" title="MedGen record for Abnormal posterior segment imaging">Abnormal posterior segment imaging</a></span></li><li><span class="TLline"><a href="/medgen/870895" ref="tree=MeSH" title="MedGen record for Abnormal vitreous humor morphology">Abnormal vitreous humor morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871347" ref="tree=MeSH" title="MedGen record for Abnormal sclera morphology">Abnormal sclera morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1863491" ref="tree=MeSH" title="MedGen record for Abnormal scleral thickness">Abnormal scleral thickness</a></span></li><li><span class="TLline"><a href="/medgen/154236" ref="tree=MeSH" title="MedGen record for Blue sclerae">Blue sclerae</a></span></li><li><span class="TLline"><a href="/medgen/401267" ref="tree=MeSH" title="MedGen record for Limbal dermoid">Limbal dermoid</a></span></li><li><span class="TLline"><a href="/medgen/507939" ref="tree=MeSH" title="MedGen record for Ocular melanocytosis">Ocular melanocytosis</a></span></li><li><span class="TLline"><a href="/medgen/347969" ref="tree=MeSH" title="MedGen record for Pigmentation of the sclera">Pigmentation of the sclera</a></span></li><li><span class="TLline"><a href="/medgen/573017" ref="tree=MeSH" title="MedGen record for Scleral rupture">Scleral rupture</a></span></li><li><span class="TLline"><a href="/medgen/509933" ref="tree=MeSH" title="MedGen record for Scleral staphyloma">Scleral staphyloma</a></span></li><li><span class="TLline"><a href="/medgen/393147" ref="tree=MeSH" title="MedGen record for Scleral thickening">Scleral thickening</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871348" ref="tree=MeSH" title="MedGen record for Abnormal uvea morphology">Abnormal uvea morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868332" ref="tree=MeSH" title="MedGen record for Abnormal ciliary body morphology">Abnormal ciliary body morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867563" ref="tree=MeSH" title="MedGen record for Abnormality of globe location">Abnormality of globe location</a></span><ul><li><span class="TLline"><a href="/medgen/473112" ref="tree=MeSH" title="MedGen record for Deeply set eye">Deeply set eye</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/9373" ref="tree=MeSH" title="MedGen record for Hypertelorism">Hypertelorism</a></span></li><li><span class="TLline"><a href="/medgen/96107" ref="tree=MeSH" title="MedGen record for Hypotelorism">Hypotelorism</a></span></li><li><span class="TLline"><a href="/medgen/41917" ref="tree=MeSH" title="MedGen record for Proptosis">Proptosis</a></span></li><li><span class="TLline"><a href="/medgen/608999" ref="tree=MeSH" title="MedGen record for Vertical orbital dystopia">Vertical orbital dystopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867562" ref="tree=MeSH" title="MedGen record for Abnormality of globe size">Abnormality of globe size</a></span><ul><li><span class="TLline"><a href="/medgen/344595" ref="tree=MeSH" title="MedGen record for Abnormally large globe">Abnormally large globe</a></span></li><li><span class="TLline"><a href="/medgen/314" ref="tree=MeSH" title="MedGen record for Anophthalmia">Anophthalmia</a></span></li><li><span class="TLline"><a href="/medgen/10033" ref="tree=MeSH" title="MedGen record for Microphthalmia">Microphthalmia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870310" ref="tree=MeSH" title="MedGen record for Abnormality of the vasculature of the eye">Abnormality of the vasculature of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/477594" ref="tree=MeSH" title="MedGen record for Abnormal iris vasculature">Abnormal iris vasculature</a></span></li><li><span class="TLline"><a href="/medgen/870305" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the conjunctival vasculature">Abnormal morphology of the conjunctival vasculature</a></span></li><li><span class="TLline"><a href="/medgen/870311" ref="tree=MeSH" title="MedGen record for Abnormal retinal vascular morphology">Abnormal retinal vascular morphology</a></span></li><li><span class="TLline"><a href="/medgen/68614" ref="tree=MeSH" title="MedGen record for Red eye">Red eye</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870303" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the eye">Aplasia/Hypoplasia affecting the eye</a></span><ul><li><span class="TLline"><a href="/medgen/870297" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the anterior segment of the eye">Aplasia/Hypoplasia affecting the anterior segment of the eye</a></span></li><li><span class="TLline"><a href="/medgen/870302" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the fundus">Aplasia/Hypoplasia affecting the fundus</a></span></li><li><span class="TLline"><a href="/medgen/870304" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the uvea">Aplasia/Hypoplasia affecting the uvea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1046" ref="tree=MeSH" title="MedGen record for Congenital ocular coloboma">Congenital ocular coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66820" ref="tree=MeSH" title="MedGen record for Chorioretinal coloboma">Chorioretinal coloboma</a></span></li><li><span class="TLline"><a href="/medgen/892599" ref="tree=MeSH" title="MedGen record for Ciliary body coloboma">Ciliary body coloboma</a></span></li><li><span class="TLline"><a href="/medgen/57832" ref="tree=MeSH" title="MedGen record for Coloboma of optic nerve">Coloboma of optic nerve</a></span></li><li><span class="TLline"><a href="/medgen/116097" ref="tree=MeSH" title="MedGen record for Iris coloboma">Iris coloboma</a></span></li><li><span class="TLline"><a href="/medgen/761889" ref="tree=MeSH" title="MedGen record for Retinal coloboma">Retinal coloboma</a></span></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5095" ref="tree=MeSH" title="MedGen record for Neoplasm of the eye">Neoplasm of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/99224" ref="tree=MeSH" title="MedGen record for Benign Eye Neoplasm">Benign Eye Neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/3208" ref="tree=MeSH" title="MedGen record for Conjunctival tumor">Conjunctival tumor</a></span></li><li><span class="TLline"><a href="/medgen/90940" ref="tree=MeSH" title="MedGen record for Cornea neoplasm">Cornea neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/41939" ref="tree=MeSH" title="MedGen record for Eyelid neoplasm">Eyelid neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/869362" ref="tree=MeSH" title="MedGen record for Hamartoma of the eye">Hamartoma of the eye</a></span></li><li><span class="TLline"><a href="/medgen/79344" ref="tree=MeSH" title="MedGen record for Intraocular lymphoma">Intraocular lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/272790" ref="tree=MeSH" title="MedGen record for Lacrimal system cancer">Lacrimal system cancer</a></span></li><li><span class="TLline"><a href="/medgen/105418" ref="tree=MeSH" title="MedGen record for Ocular cancer">Ocular cancer</a></span></li><li><span class="TLline"><a href="/medgen/18190" ref="tree=MeSH" title="MedGen record for Orbit neoplasm">Orbit neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1641875" ref="tree=MeSH" title="MedGen record for Orbital schwannoma">Orbital schwannoma</a></span></li><li><span class="TLline"><a href="/medgen/465285" ref="tree=MeSH" title="MedGen record for Paraneoplastic Syndromes, Ocular">Paraneoplastic Syndromes, Ocular</a></span></li><li><span class="TLline"><a href="/medgen/101180" ref="tree=MeSH" title="MedGen record for Retina neoplasm">Retina neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/867999" ref="tree=MeSH" title="MedGen record for Scleral schwannoma">Scleral schwannoma</a></span></li><li><span class="TLline"><a href="/medgen/52960" ref="tree=MeSH" title="MedGen record for Uvea neoplasm">Uvea neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/65077" ref="tree=MeSH" title="MedGen record for Uveal melanoma">Uveal melanoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1054823" ref="tree=MeSH" title="MedGen record for Ocular cystine crystal deposition">Ocular cystine crystal deposition</a></span></li><li><span class="TLline"><a href="/medgen/124382" ref="tree=MeSH" title="MedGen record for Phthisis bulbi">Phthisis bulbi</a></span></li><li><span class="TLline"><a href="/medgen/869293" ref="tree=MeSH" title="MedGen record for Spontaneous rupture of the globe">Spontaneous rupture of the globe</a></span></li></ul></li><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="TLline"><a href="/medgen/536130" ref="tree=MeSH" title="MedGen record for Abnormal corneal reflex">Abnormal corneal reflex</a></span><ul><li><span class="TLline"><a href="/medgen/78835" ref="tree=MeSH" title="MedGen record for Absent corneal reflex">Absent corneal reflex</a></span></li><li><span class="TLline"><a href="/medgen/57723" ref="tree=MeSH" title="MedGen record for Decreased corneal reflex">Decreased corneal reflex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1639027" ref="tree=MeSH" title="MedGen record for Abnormal extraocular muscle physiology">Abnormal extraocular muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1632351" ref="tree=MeSH" title="MedGen record for Abnormal oblique muscle physiology">Abnormal oblique muscle physiology</a></span></li><li><span class="TLline"><a href="/medgen/1645117" ref="tree=MeSH" title="MedGen record for Abnormal rectus muscle physiology">Abnormal rectus muscle physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/636377" ref="tree=MeSH" title="MedGen record for Abnormal intraocular pressure">Abnormal intraocular pressure</a></span><ul><li><span class="TLline"><a href="/medgen/812231" ref="tree=MeSH" title="MedGen record for Asymmetry of intraocular pressure">Asymmetry of intraocular pressure</a></span></li><li><span class="TLline"><a href="/medgen/10424" ref="tree=MeSH" title="MedGen record for Ocular hypotension">Ocular hypotension</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/214629" ref="tree=MeSH" title="MedGen record for Abnormal pupillary function">Abnormal pupillary function</a></span><ul><li><span class="TLline"><a href="/medgen/370954" ref="tree=MeSH" title="MedGen record for Abnormal pupillary light reflex">Abnormal pupillary light reflex</a></span></li><li><span class="TLline"><a href="/medgen/1054596" ref="tree=MeSH" title="MedGen record for Lack of pupillary response to hydroxyamphetamine">Lack of pupillary response to hydroxyamphetamine</a></span></li><li><span class="TLline"><a href="/medgen/6409" ref="tree=MeSH" title="MedGen record for Miosis">Miosis</a></span></li><li><span class="TLline"><a href="/medgen/10145" ref="tree=MeSH" title="MedGen record for Mydriasis">Mydriasis</a></span></li><li><span class="TLline"><a href="/medgen/1052816" ref="tree=MeSH" title="MedGen record for Pupillary hypersensitivity to parasympathomimetic agents">Pupillary hypersensitivity to parasympathomimetic agents</a></span></li><li><span class="TLline"><a href="/medgen/52779" ref="tree=MeSH" title="MedGen record for Tonic pupil">Tonic pupil</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/900341" ref="tree=MeSH" title="MedGen record for Abnormal visual accommodation">Abnormal visual accommodation</a></span><ul><li><span class="TLline"><a href="/medgen/906988" ref="tree=MeSH" title="MedGen record for Reduced visual accommodation">Reduced visual accommodation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892656" ref="tree=MeSH" title="MedGen record for Abnormal visual electrophysiology">Abnormal visual electrophysiology</a></span><ul><li><span class="TLline"><a href="/medgen/510708" ref="tree=MeSH" title="MedGen record for Abnormal electrooculogram">Abnormal electrooculogram</a></span></li><li><span class="TLline"><a href="/medgen/96908" ref="tree=MeSH" title="MedGen record for Abnormal electroretinogram">Abnormal electroretinogram</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/99227" ref="tree=MeSH" title="MedGen record for Abnormality of eye movement">Abnormality of eye movement</a></span><ul><li><span class="TLline"><a href="/medgen/337198" ref="tree=MeSH" title="MedGen record for Abnormal conjugate eye movement">Abnormal conjugate eye movement</a></span></li><li><span class="TLline"><a href="/medgen/868461" ref="tree=MeSH" title="MedGen record for Abnormal involuntary eye movements">Abnormal involuntary eye movements</a></span></li><li><span class="TLline"><a href="/medgen/1631352" ref="tree=MeSH" title="MedGen record for Abnormal ocular alignment">Abnormal ocular alignment</a></span></li><li><span class="TLline"><a href="/medgen/66709" ref="tree=MeSH" title="MedGen record for Abnormal saccadic eye movements">Abnormal saccadic eye movements</a></span></li><li><span class="TLline"><a href="/medgen/1390282" ref="tree=MeSH" title="MedGen record for Abnormal visual fixation">Abnormal visual fixation</a></span></li><li><span class="TLline"><a href="/medgen/868990" ref="tree=MeSH" title="MedGen record for Abnormality of ocular abduction">Abnormality of ocular abduction</a></span></li><li><span class="TLline"><a href="/medgen/322909" ref="tree=MeSH" title="MedGen record for Abnormality of ocular smooth pursuit">Abnormality of ocular smooth pursuit</a></span></li><li><span class="TLline"><a href="/medgen/1647498" ref="tree=MeSH" title="MedGen record for Compensatory head posture">Compensatory head posture</a></span></li><li><span class="TLline"><a href="/medgen/337588" ref="tree=MeSH" title="MedGen record for Impaired ocular adduction">Impaired ocular adduction</a></span></li><li><span class="TLline"><a href="/medgen/120582" ref="tree=MeSH" title="MedGen record for Jaw-winking syndrome">Jaw-winking syndrome</a></span></li><li><span class="TLline"><a href="/medgen/388060" ref="tree=MeSH" title="MedGen record for Limited extraocular movements">Limited extraocular movements</a></span></li><li><span class="TLline"><a href="/medgen/1783919" ref="tree=MeSH" title="MedGen record for Oculomotor synkinesis">Oculomotor synkinesis</a></span></li><li><span class="TLline"><a href="/medgen/155551" ref="tree=MeSH" title="MedGen record for Ophthalmoparesis">Ophthalmoparesis</a></span></li><li><span class="TLline"><a href="/medgen/1784433" ref="tree=MeSH" title="MedGen record for Paroxysmal tonic upgaze">Paroxysmal tonic upgaze</a></span></li><li><span class="TLline"><a href="/medgen/1388778" ref="tree=MeSH" title="MedGen record for Visual gaze preference">Visual gaze preference</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871349" ref="tree=MeSH" title="MedGen record for Abnormality of refraction">Abnormality of refraction</a></span><ul><li><span class="TLline"><a href="/medgen/8099" ref="tree=MeSH" title="MedGen record for Anisometropia">Anisometropia</a></span></li><li><span class="TLline"><a href="/medgen/43780" ref="tree=MeSH" title="MedGen record for Hypermetropia">Hypermetropia</a></span></li><li><span class="TLline"><a href="/medgen/44558" ref="tree=MeSH" title="MedGen record for Myopia">Myopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871352" ref="tree=MeSH" title="MedGen record for Abnormality of vision">Abnormality of vision</a></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></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></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></li><li><span class="TLline"><a href="/medgen/331206" ref="tree=MeSH" title="MedGen record for Bradyopsia">Bradyopsia</a></span></li><li><span class="TLline"><a href="/medgen/115964" ref="tree=MeSH" title="MedGen record for Color vision defect">Color vision defect</a></span></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></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></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></li><li><span class="TLline"><a href="/medgen/777085" ref="tree=MeSH" title="MedGen record for Visual impairment">Visual impairment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2108" ref="tree=MeSH" title="MedGen record for Asthenopia">Asthenopia</a></span></li><li><span class="TLline"><a href="/medgen/850784" ref="tree=MeSH" title="MedGen record for Congenital stationary cone dysfunction">Congenital stationary cone dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/1768148" ref="tree=MeSH" title="MedGen record for Corneal foreign body sensation">Corneal foreign body sensation</a></span></li><li><span class="TLline"><a href="/medgen/488834" ref="tree=MeSH" title="MedGen record for Decreased corneal sensation">Decreased corneal sensation</a></span></li><li><span class="TLline"><a href="/medgen/42224" ref="tree=MeSH" title="MedGen record for Glaucoma">Glaucoma</a></span><ul><li><span class="TLline"><a href="/medgen/6610" ref="tree=MeSH" title="MedGen record for Angle-closure glaucoma">Angle-closure glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/852902" ref="tree=MeSH" title="MedGen record for Bilateral glaucoma">Bilateral glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/42532" ref="tree=MeSH" title="MedGen record for Congenital glaucoma">Congenital glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/333974" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, A">Glaucoma 1, open angle, A</a></span></li><li><span class="TLline"><a href="/medgen/854650" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, B">Glaucoma 1, open angle, B</a></span></li><li><span class="TLline"><a href="/medgen/355468" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, D">Glaucoma 1, open angle, D</a></span></li><li><span class="TLline"><a href="/medgen/355096" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, F">Glaucoma 1, open angle, F</a></span></li><li><span class="TLline"><a href="/medgen/332090" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, G">Glaucoma 1, open angle, G</a></span></li><li><span class="TLline"><a href="/medgen/409919" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, H">Glaucoma 1, open angle, H</a></span></li><li><span class="TLline"><a href="/medgen/341861" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, I">Glaucoma 1, open angle, I</a></span></li><li><span class="TLline"><a href="/medgen/324818" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, J">Glaucoma 1, open angle, J</a></span></li><li><span class="TLline"><a href="/medgen/324817" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, K">Glaucoma 1, open angle, K</a></span></li><li><span class="TLline"><a href="/medgen/400584" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, M">Glaucoma 1, open angle, M</a></span></li><li><span class="TLline"><a href="/medgen/370756" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, N">Glaucoma 1, open angle, N</a></span></li><li><span class="TLline"><a href="/medgen/416515" ref="tree=MeSH" title="MedGen record for Glaucoma 1, open angle, O">Glaucoma 1, open angle, O</a></span></li><li><span class="TLline"><a href="/medgen/356544" ref="tree=MeSH" title="MedGen record for Glaucoma type 1C">Glaucoma type 1C</a></span></li><li><span class="TLline"><a href="/medgen/56263" ref="tree=MeSH" title="MedGen record for Low tension glaucoma">Low tension glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/4898" ref="tree=MeSH" title="MedGen record for Neovascular glaucoma">Neovascular glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/6611" ref="tree=MeSH" title="MedGen record for Open-angle glaucoma">Open-angle glaucoma</a></span></li><li><span class="TLline"><a href="/medgen/87389" ref="tree=MeSH" title="MedGen record for Primary open angle glaucoma">Primary open angle glaucoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4625" ref="tree=MeSH" title="MedGen record for Hemorrhage of the eye">Hemorrhage of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/3428" ref="tree=MeSH" title="MedGen record for Choroid hemorrhage">Choroid hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/9379" ref="tree=MeSH" title="MedGen record for Hyphema">Hyphema</a></span></li><li><span class="TLline"><a href="/medgen/11210" ref="tree=MeSH" title="MedGen record for Retinal hemorrhage">Retinal hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/21363" ref="tree=MeSH" title="MedGen record for Subconjunctival hemorrhage">Subconjunctival hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/12119" ref="tree=MeSH" title="MedGen record for Vitreous hemorrhage">Vitreous hemorrhage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867427" ref="tree=MeSH" title="MedGen record for Lacrimation abnormality">Lacrimation abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1863542" ref="tree=MeSH" title="MedGen record for Brief tear break-up time">Brief tear break-up time</a></span></li><li><span class="TLline"><a href="/medgen/116004" ref="tree=MeSH" title="MedGen record for Decreased lacrimation">Decreased lacrimation</a></span></li><li><span class="TLline"><a href="/medgen/57518" ref="tree=MeSH" title="MedGen record for Epiphora">Epiphora</a></span></li><li><span class="TLline"><a href="/medgen/548747" ref="tree=MeSH" title="MedGen record for Hemolacria">Hemolacria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2287" ref="tree=MeSH" title="MedGen record for Ptosis">Ptosis</a></span><ul><li><span class="TLline"><a href="/medgen/356120" ref="tree=MeSH" title="MedGen record for Bilateral ptosis">Bilateral ptosis</a></span></li><li><span class="TLline"><a href="/medgen/78612" ref="tree=MeSH" title="MedGen record for Congenital ptosis">Congenital ptosis</a></span></li><li><span class="TLline"><a href="/medgen/320251" ref="tree=MeSH" title="MedGen record for Progressive ptosis">Progressive ptosis</a></span></li><li><span class="TLline"><a href="/medgen/401085" ref="tree=MeSH" title="MedGen record for Unilateral ptosis">Unilateral ptosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/816157" ref="tree=MeSH" title="MedGen record for Staring gaze">Staring gaze</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_6291"><div><strong>Melkersson-Rosenthal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6291</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.">C0025235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Melkersson-Rosenthal syndrome is characterized by chronic swelling of the face, peripheral facial palsy, which may be bilateral and may tend to relapse, and in some cases ligua plicata (fissured tongue). The swelling is localized especially to the lips. Onset is usually in childhood or adolescence (summary by Kunstadter, 1965).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6291">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78541"><div><strong>Agnathia-otocephaly complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78541</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.">C0265242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Agnathia-otocephaly (AGOTC) is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78541">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_124342"><div><strong>Iminoglycinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124342</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.">C0268654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; 138500) (summary by Broer et al., 2008). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/124342">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</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.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_266181"><div><strong>Ocular cicatricial pemphigoid</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266181</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.">C1282359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266181">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_231158"><div><strong>Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231158</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.">C1321495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/231158">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_316814"><div><strong>Prepapillary vascular loop</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316814</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.">C1828066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/316814">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320388"><div><strong>Myelinated optic nerve fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320388</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.">C1834600</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320388">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320506"><div><strong>Melanoma, cutaneous malignant, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320506</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.">C1835047</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma The locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32; CMM7 (612263), mapped to chromosome 20q11; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p13; CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15; and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31. Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, BAP1 (603089), and RASA2 (601589). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320506">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320592"><div><strong>Levator-medial rectus synkinesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320592</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.">C1835403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculomotor-levator synkinesis (OCLEVS) is characterized by abnormal eyelid elevation or retraction during ipsilateral adduction. The disorder most likely results from aberrant innervation of extraocular muscles by the oculomotor nerve (cranial nerve III). Normally, the levator muscle is served by the superior branch of CN3 and the medial rectus muscle is served by the inferior branch of CN3. The clinical features suggest synkinesis between the medial rectus and levator muscle branches. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD) and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see 135700) (summary by Pang et al., 1986 and Khan et al., 2004) See also oculomotor-abducens synkinesis (OCABSN; 619215), caused by mutation in the ACKR3 gene (610376) on chromosome 2q37.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/320592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326816"><div><strong>Unique green phenomenon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326816</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.">C1839116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326816">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375481"><div><strong>X-linked corneal dermoid</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375481</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.">C1844671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial greyish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375481">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341234"><div><strong>Otospondylomegaepiphyseal dysplasia, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341234</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.">C1848488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342534"><div><strong>Nemaline myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342534</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.">C1850569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). Genetic Heterogeneity of Nemaline Myopathy See also NEM1 (255310), caused by mutation in the tropomyosin-3 gene (TPM3; 191030) on chromosome 1q21; NEM3 (161800), caused by mutation in the alpha-actin-1 gene (ACTA1; 102610) on chromosome 1q42; NEM4 (609285), caused by mutation in the beta-tropomyosin gene (TPM2; 190990) on chromosome 9p13; NEM5A (605355), also known as Amish nemaline myopathy, NEM5B (620386), and NEM5C (620389), all caused by mutation in the troponin T1 gene (TNNT1; 191041) on chromosome 19q13; NEM6 (609273), caused by mutation in the KBTBD13 gene (613727) on chromosome 15q22; NEM7 (610687), caused by mutation in the cofilin-2 gene (CFL2; 601443) on chromosome 14q13; NEM8 (615348), caused by mutation in the KLHL40 gene (615340), on chromosome 3p22; NEM9 (615731), caused by mutation in the KLHL41 gene (607701) on chromosome 2q31; NEM10 (616165), caused by mutation in the LMOD3 gene (616112) on chromosome 3p14; and NEM11 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347366"><div><strong>SchC6pf-Schulz-Passarge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347366</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.">C1857069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347366">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_409531"><div><strong>Gaucher disease type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409531</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.">C1961835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_392987"><div><strong>Dystonia with cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>392987</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.">C2673697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/392987">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436138"><div><strong>Thrombophilia due to protein C deficiency, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436138</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.">C2674321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419413"><div><strong>Infantile-onset ascending hereditary spastic paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419413</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.">C2931441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419413">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_423639"><div><strong>Cross syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423639</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.">C2936910</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/423639">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_765150"><div><strong>Complex cortical dysplasia with other brain malformations 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765150</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.">C3552236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765150">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767041"><div><strong>Ectodermal dysplasia 9, hair/nail type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767041</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.">C3554127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861039"><div><strong>Autosomal recessive nonsyndromic hearing loss 124</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861039</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.">C5935612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive deafness-124 (DFNB124) is characterized by congenital nonsyndromic progressive sensorineural hearing loss (Redfield et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861039">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agnathia-otocephaly complex</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861039" 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 124</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_765150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complex cortical dysplasia with other brain malformations 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_423639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cross syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_392987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia with cerebellar atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 9, hair/nail type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iminoglycinuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset ascending hereditary spastic paralysis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Levator-medial rectus synkinesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melanoma, cutaneous malignant, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melkersson-Rosenthal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myelinated optic nerve fibers</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ocular cicatricial pemphigoid</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prepapillary vascular loop</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SchC6pf-Schulz-Passarge syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombophilia due to protein C deficiency, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unique green phenomenon</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked corneal dermoid</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18997316">Restoration of underdeveloped cortical functions: evidence from treatment of adult amblyopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polat U</span><br />
|
||
<span class="medgenPMjournal">Restor Neurol Neurosci</span>
|
||
2008;26(4-5):413-24.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18997316" target="_blank">18997316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15782728">A retrospective review of visual outcome and complications in the treatment of retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Doherty M,
|
||
Lanigan B,
|
||
Breathnach F,
|
||
O'Meara A,
|
||
Gallie B,
|
||
Chan H,
|
||
O'Keefe M</span><br />
|
||
<span class="medgenPMjournal">Ir Med J</span>
|
||
2005 Jan;98(1):17-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15782728" target="_blank">15782728</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20eye%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</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/34214363">Effectiveness of citicoline in pediatric patients with refractive amblyopia in Surabaya, East Java, Indonesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loebis R,
|
||
Zulkarnain BS,
|
||
Siswanto FA</span><br />
|
||
<span class="medgenPMjournal">J Basic Clin Physiol Pharmacol</span>
|
||
2021 Jun 25;32(4):657-661.
|
||
doi: 10.1515/jbcpp-2020-0480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34214363" target="_blank">34214363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24743944">Spectrum of congenital defects of the eye and its adnexia in the pediatric age group; experience at a tertiary facility in Nigeria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adekoya BJ,
|
||
Balogun MM,
|
||
Balogun BG,
|
||
Ngwu RA</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2015 Jun;35(3):311-7.
|
||
Epub 2014 Apr 18
|
||
doi: 10.1007/s10792-014-9946-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24743944" target="_blank">24743944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24852148">Amblyopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeSantis D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2014 Jun;61(3):505-18.
|
||
Epub 2014 Apr 14
|
||
doi: 10.1016/j.pcl.2014.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24852148" target="_blank">24852148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20869774">Prevalence and causes of amblyopia in a rural adult population of Chinese the Handan Eye Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Liang YB,
|
||
Sun LP,
|
||
Duan XR,
|
||
Yuan RZ,
|
||
Wong TY,
|
||
Yi P,
|
||
Friedman DS,
|
||
Wang NL,
|
||
Wang JJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2011 Feb;118(2):279-83.
|
||
Epub 2010 Sep 24
|
||
doi: 10.1016/j.ophtha.2010.05.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20869774" target="_blank">20869774</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15782728">A retrospective review of visual outcome and complications in the treatment of retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Doherty M,
|
||
Lanigan B,
|
||
Breathnach F,
|
||
O'Meara A,
|
||
Gallie B,
|
||
Chan H,
|
||
O'Keefe M</span><br />
|
||
<span class="medgenPMjournal">Ir Med J</span>
|
||
2005 Jan;98(1):17-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15782728" target="_blank">15782728</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20eye%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37036412">Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ciftci MD,
|
||
Demirkilinc Biler E,
|
||
Palamar M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2023 Sep-Oct 01;39(5):e136-e139.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1097/IOP.0000000000002386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37036412" target="_blank">37036412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24852148">Amblyopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeSantis D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2014 Jun;61(3):505-18.
|
||
Epub 2014 Apr 14
|
||
doi: 10.1016/j.pcl.2014.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24852148" target="_blank">24852148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20869774">Prevalence and causes of amblyopia in a rural adult population of Chinese the Handan Eye Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Liang YB,
|
||
Sun LP,
|
||
Duan XR,
|
||
Yuan RZ,
|
||
Wong TY,
|
||
Yi P,
|
||
Friedman DS,
|
||
Wang NL,
|
||
Wang JJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2011 Feb;118(2):279-83.
|
||
Epub 2010 Sep 24
|
||
doi: 10.1016/j.ophtha.2010.05.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20869774" target="_blank">20869774</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15782728">A retrospective review of visual outcome and complications in the treatment of retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Doherty M,
|
||
Lanigan B,
|
||
Breathnach F,
|
||
O'Meara A,
|
||
Gallie B,
|
||
Chan H,
|
||
O'Keefe M</span><br />
|
||
<span class="medgenPMjournal">Ir Med J</span>
|
||
2005 Jan;98(1):17-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15782728" target="_blank">15782728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9390374">Patterns of cataract referral in the West Midlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latham K,
|
||
Misson G</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Physiol Opt</span>
|
||
1997 Jul;17(4):300-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9390374" target="_blank">9390374</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20eye%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34214363">Effectiveness of citicoline in pediatric patients with refractive amblyopia in Surabaya, East Java, Indonesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loebis R,
|
||
Zulkarnain BS,
|
||
Siswanto FA</span><br />
|
||
<span class="medgenPMjournal">J Basic Clin Physiol Pharmacol</span>
|
||
2021 Jun 25;32(4):657-661.
|
||
doi: 10.1515/jbcpp-2020-0480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34214363" target="_blank">34214363</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20869774">Prevalence and causes of amblyopia in a rural adult population of Chinese the Handan Eye Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Liang YB,
|
||
Sun LP,
|
||
Duan XR,
|
||
Yuan RZ,
|
||
Wong TY,
|
||
Yi P,
|
||
Friedman DS,
|
||
Wang NL,
|
||
Wang JJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2011 Feb;118(2):279-83.
|
||
Epub 2010 Sep 24
|
||
doi: 10.1016/j.ophtha.2010.05.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20869774" target="_blank">20869774</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20eye%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20506997">Risk of refractive pathology after spontaneously regressed ROP in emmetropic patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrison DG,
|
||
Emanuel M,
|
||
Donahue SP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2010 May-Jun;47(3):141-4.
|
||
Epub 2010 May 20
|
||
doi: 10.3928/01913913-20100505-05.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20506997" target="_blank">20506997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15317699">Consequences of amblyopia on education, occupation, and long term vision loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chua B,
|
||
Mitchell P</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2004 Sep;88(9):1119-21.
|
||
doi: 10.1136/bjo.2004.041863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15317699" target="_blank">15317699</a><a href="/pmc/articles/PMC1772316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20eye%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20506997">Risk of refractive pathology after spontaneously regressed ROP in emmetropic patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrison DG,
|
||
Emanuel M,
|
||
Donahue SP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2010 May-Jun;47(3):141-4.
|
||
Epub 2010 May 20
|
||
doi: 10.3928/01913913-20100505-05.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20506997" target="_blank">20506997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17944625">Strabismus and eye muscle function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lennerstrand G</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
|
||
2007 Nov;85(7):711-23.
|
||
doi: 10.1111/j.1600-0420.2007.00853.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17944625" target="_blank">17944625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15933805">A novel locus of coralliform cataract mapped to chromosome 2p24-pter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao L,
|
||
Qin W,
|
||
Cui H,
|
||
Feng G,
|
||
Liu P,
|
||
Gao W,
|
||
Ma L,
|
||
Li P,
|
||
He L,
|
||
Fu S</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2005;50(6):305-310.
|
||
Epub 2005 Jun 3
|
||
doi: 10.1007/s10038-005-0251-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15933805" target="_blank">15933805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9158139">Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litt M,
|
||
Carrero-Valenzuela R,
|
||
LaMorticella DM,
|
||
Schultz DW,
|
||
Mitchell TN,
|
||
Kramer P,
|
||
Maumenee IH</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1997 May;6(5):665-8.
|
||
doi: 10.1093/hmg/6.5.665.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9158139" target="_blank">9158139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/655580">Alcohol and the oculomotor system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umeda Y,
|
||
Sakata E</span><br />
|
||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
|
||
1978 May-Jun;87(3 Pt 1):392-8.
|
||
doi: 10.1177/000348947808700319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/655580" target="_blank">655580</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20eye%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<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">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4316870%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C4316870%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4316870%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20eye" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormality%20of%20the%20eye%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormality%20of%20the%20eye" target="_blank">MedlinePlus</a></li></ul></div>
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|
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|
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<div class="portlet_head">
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<h3>Reviews</h3>
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<li>
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<a href="/pubmed/clinical?term=Abnormality%20of%20the%20eye" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Abnormality%20of%20the%20eye%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1370071" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4316870[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
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|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4316870[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1370071" ref="log$=recordlinks">PMC Articles</a>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Turn On
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|
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<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d347fccde49f3df7cf6f1f">Abnormality of the eye</a>
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<div class="ralinkpop offscreen_noflow">Abnormality of the eye<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="ralinkpop offscreen_noflow">Unilateral microphthalmos<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d347f184f3725e593bedbf">Retinal coloboma</a>
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<div class="tertiary">MedGen</div>
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<div class="ralinkpop offscreen_noflow">Iris coloboma<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d347edcde49f3df7cf2eb1">Congenital ocular coloboma</a>
|
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<div class="ralinkpop offscreen_noflow">Congenital ocular coloboma<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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