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<meta name="keywords" content="C2750063, disease or syndrome, lca14, leber congenital amaurosis 14, leber congenital amaurosis caused by mutation in lrat, leber congenital amaurosis type 14, lrat, lrat leber congenital amaurosis, lrat-related leber congenital amaurosis, retinal dystrophy, early-onset severe, retinal dystrophy, early-onset severe, lrat-related, retinitis pigmentosa, juvenile, retinitis pigmentosa, juvenile, lrat-related, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=442375
|
||
ConceptID=C2750063
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Leber congenital amaurosis 14<span class="h1sub">(LCA14)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2750063</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LCA14; LRAT-Related Leber Congenital Amaurosis</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="LRAT - ID: 9227 - NCBI Gene" href="/gene/9227" class="medgenPMinfo">LRAT</a> (4q32.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013231" target="_blank">MONDO:0013231</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613341" target="_blank">613341</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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">Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />At least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.<br /><br />In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.<br /><br />A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.<br /><br />Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.<br /><br />Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time. <a target="_blank" href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis">https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_43220"><div><strong>Photophobia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43220</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.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43220">Feature record</a> | <a href="/medgen?term=%22Photophobia%22%5BClinical%20Features%5D%20OR%2043220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39084"><div><strong>Falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39084</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.">C0085639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden movement downward, usually resulting in injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39084">Feature record</a> | <a href="/medgen?term=%22Falls%22%5BClinical%20Features%5D%20OR%2039084%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69133"><div><strong>Pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69133</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.">C0241137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally pale skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69133">Feature record</a> | <a href="/medgen?term=%22Pallor%22%5BClinical%20Features%5D%20OR%2069133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2288"><div><strong>Congenital blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2288</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.">C0005754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blindness with onset at birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2288">Feature record</a> | <a href="/medgen?term=%22Congenital%20blindness%22%5BClinical%20Features%5D%20OR%202288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10349"><div><strong>Night blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10349</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.">C0028077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to see well at night or in poor light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10349">Feature record</a> | <a href="/medgen?term=%22Night%20blindness%22%5BClinical%20Features%5D%20OR%2010349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108218"><div><strong>Optic disc pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108218</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.">C0554970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108218">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20pallor%22%5BClinical%20Features%5D%20OR%20108218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208903"><div><strong>Retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208903</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.">C0854723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208903">Feature record</a> | <a href="/medgen?term=%22Retinal%20dystrophy%22%5BClinical%20Features%5D%20OR%20208903%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326793"><div><strong>Decreased light- and dark-adapted electroretinogram amplitude</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326793</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.">C1839025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased amplitude of eletrical response upon electroretinography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326793">Feature record</a> | <a href="/medgen?term=%22Decreased%20light-%20and%20dark-adapted%20electroretinogram%20amplitude%22%5BClinical%20Features%5D%20OR%20326793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383742"><div><strong>Undetectable electroretinogram</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383742</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.">C1855685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of any response to stimulation upon electroretinography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383742">Feature record</a> | <a href="/medgen?term=%22Undetectable%20electroretinogram%22%5BClinical%20Features%5D%20OR%20383742%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632921"><div><strong>Rod-cone dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632921</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.">C4551714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632921">Feature record</a> | <a href="/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased light- and dark-adapted electroretinogram amplitude</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Night blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc pallor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Undetectable electroretinogram</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallor</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Falls</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photophobia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0339527[DISCUI]&test_type=Clinical" ref="ncbi_uid=137922">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=137922" ref="ncbi_uid=137922">V</a></span></span><span class="TLline"><a href="/medgen/137922" ref="tree=GTR&ncbi_uid=137922&link_uid=137922" title="View MedGen record for 'Leber congenital amaurosis'">Leber congenital amaurosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931258[DISCUI]&test_type=Clinical" ref="ncbi_uid=419026">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419026" target="_blank" href="/omim/204000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=419026">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419026" ref="ncbi_uid=419026">V</a></span></span><span class="TLline"><a href="/medgen/419026" ref="tree=GTR&ncbi_uid=419026&link_uid=419026" title="View MedGen record for 'Leber congenital amaurosis 1'">Leber congenital amaurosis 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859844[DISCUI]&test_type=Clinical" ref="ncbi_uid=348473">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348473" target="_blank" href="/omim/180069">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK531510%20OR%20NBK549574)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=348473">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=348473" ref="ncbi_uid=348473">V</a></span></span><span class="TLline"><a href="/medgen/348473" ref="tree=GTR&ncbi_uid=348473&link_uid=348473" title="View MedGen record for 'Leber congenital amaurosis 2'">Leber congenital amaurosis 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858677[DISCUI]&test_type=Clinical" ref="ncbi_uid=346964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346964" target="_blank" href="/omim/604232">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=346964">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346964" ref="ncbi_uid=346964">V</a></span></span><span class="TLline"><a href="/medgen/346964" ref="tree=GTR&ncbi_uid=346964&link_uid=346964" title="View MedGen record for 'Leber congenital amaurosis 3'">Leber congenital amaurosis 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858386[DISCUI]&test_type=Clinical" ref="ncbi_uid=346808">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346808" target="_blank" href="/omim/604392">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=346808">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346808" ref="ncbi_uid=346808">V</a></span></span><span class="TLline"><a href="/medgen/346808" ref="tree=GTR&ncbi_uid=346808&link_uid=346808" title="View MedGen record for 'Leber congenital amaurosis 4'">Leber congenital amaurosis 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858301[DISCUI]&test_type=Clinical" ref="ncbi_uid=388031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=388031" target="_blank" href="/omim/604537">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=388031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=388031" ref="ncbi_uid=388031">V</a></span></span><span class="TLline"><a href="/medgen/388031" ref="tree=GTR&ncbi_uid=388031&link_uid=388031" title="View MedGen record for 'Leber congenital amaurosis 5'">Leber congenital amaurosis 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854260[DISCUI]&test_type=Clinical" ref="ncbi_uid=344245">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344245" target="_blank" href="/omim/605446">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=344245">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344245" ref="ncbi_uid=344245">V</a></span></span><span class="TLline"><a href="/medgen/344245" ref="tree=GTR&ncbi_uid=344245&link_uid=344245" title="View MedGen record for 'Leber congenital amaurosis 6'">Leber congenital amaurosis 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151192[DISCUI]&test_type=Clinical" ref="ncbi_uid=462542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462542" target="_blank" href="/omim/602225">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=462542">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462542" ref="ncbi_uid=462542">V</a></span></span><span class="TLline"><a href="/medgen/462542" ref="tree=GTR&ncbi_uid=462542&link_uid=462542" title="View MedGen record for 'Leber congenital amaurosis 7'">Leber congenital amaurosis 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151202[DISCUI]&test_type=Clinical" ref="ncbi_uid=462552">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462552" target="_blank" href="/omim/604210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=462552">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462552" ref="ncbi_uid=462552">V</a></span></span><span class="TLline"><a href="/medgen/462552" ref="tree=GTR&ncbi_uid=462552&link_uid=462552" title="View MedGen record for 'Leber congenital amaurosis 8'">Leber congenital amaurosis 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837873[DISCUI]&test_type=Clinical" ref="ncbi_uid=325277">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325277" target="_blank" href="/omim/608553">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=325277">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325277" ref="ncbi_uid=325277">V</a></span></span><span class="TLline"><a href="/medgen/325277" ref="tree=GTR&ncbi_uid=325277&link_uid=325277" title="View MedGen record for 'Leber congenital amaurosis 9'">Leber congenital amaurosis 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857821[DISCUI]&test_type=Clinical" ref="ncbi_uid=346672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346672" target="_blank" href="/omim/610142">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=346672">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346672" ref="ncbi_uid=346672">V</a></span></span><span class="TLline"><a href="/medgen/346672" ref="tree=GTR&ncbi_uid=346672&link_uid=346672" title="View MedGen record for 'Leber congenital amaurosis 10'">Leber congenital amaurosis 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1840284[DISCUI]&test_type=Clinical" ref="ncbi_uid=326698">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=326698" target="_blank" href="/omim/146690">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=326698">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=326698" ref="ncbi_uid=326698">V</a></span></span><span class="TLline"><a href="/medgen/326698" ref="tree=GTR&ncbi_uid=326698&link_uid=326698" title="View MedGen record for 'Leber congenital amaurosis 11'">Leber congenital amaurosis 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857743[DISCUI]&test_type=Clinical" ref="ncbi_uid=347535">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347535" target="_blank" href="/omim/180040">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=347535">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347535" ref="ncbi_uid=347535">V</a></span></span><span class="TLline"><a href="/medgen/347535" ref="tree=GTR&ncbi_uid=347535&link_uid=347535" title="View MedGen record for 'Leber congenital amaurosis 12'">Leber congenital amaurosis 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675186[DISCUI]&test_type=Clinical" ref="ncbi_uid=382544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382544" target="_blank" href="/omim/608830">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1417%20OR%20NBK531510)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=382544">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382544" ref="ncbi_uid=382544">V</a></span></span><span class="TLline"><a href="/medgen/382544" ref="tree=GTR&ncbi_uid=382544&link_uid=382544" title="View MedGen record for 'Leber congenital amaurosis 13'">Leber congenital amaurosis 13</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750063[DISCUI]&test_type=Clinical" ref="ncbi_uid=442375">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442375" target="_blank" href="/omim/604863">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=442375">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442375" ref="ncbi_uid=442375">V</a></span></span><span class="TLline">Leber congenital amaurosis 14</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151206[DISCUI]&test_type=Clinical" ref="ncbi_uid=462556">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462556" target="_blank" href="/omim/602280">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=462556">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462556" ref="ncbi_uid=462556">V</a></span></span><span class="TLline"><a href="/medgen/462556" ref="tree=GTR&ncbi_uid=462556&link_uid=462556" title="View MedGen record for 'Leber congenital amaurosis 15'">Leber congenital amaurosis 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280062[DISCUI]&test_type=Clinical" ref="ncbi_uid=481692">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481692" target="_blank" href="/omim/603208">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=481692">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481692" ref="ncbi_uid=481692">V</a></span></span><span class="TLline"><a href="/medgen/481692" ref="tree=GTR&ncbi_uid=481692&link_uid=481692" title="View MedGen record for 'Leber congenital amaurosis 16'">Leber congenital amaurosis 16</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/5092" ref="tree=MeSH" title="MedGen record for Disorder of eye">Disorder of eye</a></span><ul><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><li><span class="TLline"><a href="/medgen/137922" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis">Leber congenital amaurosis</a></span><ul><li><span class="matched_ds">Leber congenital amaurosis 14</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/35001204">Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng C,
|
||
Zhao PY,
|
||
Branham K,
|
||
Schlegel D,
|
||
Fahim AT,
|
||
Jayasundera TK,
|
||
Khan N,
|
||
Besirli CG</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2022 May;260(5):1543-1550.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1007/s00417-021-05508-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35001204" target="_blank">35001204</a><a href="/pmc/articles/PMC9010358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32428231">Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uyhazi KE,
|
||
Aravand P,
|
||
Bell BA,
|
||
Wei Z,
|
||
Leo L,
|
||
Serrano LW,
|
||
Pearson DJ,
|
||
Shpylchak I,
|
||
Pham J,
|
||
Vasireddy V,
|
||
Bennett J,
|
||
Aleman TS</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2020 May 11;61(5):30.
|
||
doi: 10.1167/iovs.61.5.30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32428231" target="_blank">32428231</a><a href="/pmc/articles/PMC7405811" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31626798">Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yi Z,
|
||
Xiao X,
|
||
Li S,
|
||
Sun W,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2019 Dec;189:107846.
|
||
Epub 2019 Oct 15
|
||
doi: 10.1016/j.exer.2019.107846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31626798" target="_blank">31626798</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(leber%20congenital%20amaurosis%2014)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38880373">Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Sun J,
|
||
Liu Z,
|
||
Wang H,
|
||
Zhou H,
|
||
Liu W,
|
||
Jia H,
|
||
Li N,
|
||
Li T,
|
||
Wang F,
|
||
Sun X</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:235-247.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.ajo.2024.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880373" target="_blank">38880373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38662103">Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
|
||
Huang L,
|
||
Xie Y,
|
||
Liu W,
|
||
Zhang S,
|
||
Liu L,
|
||
Lin P,
|
||
Li N</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2024 Sep;262(9):3029-3038.
|
||
Epub 2024 Apr 25
|
||
doi: 10.1007/s00417-024-06450-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38662103" target="_blank">38662103</a><a href="/pmc/articles/PMC11377616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35314386">The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn LC,
|
||
Georgiou M,
|
||
Almushattat H,
|
||
van Schooneveld MJ,
|
||
de Carvalho ER,
|
||
Wesseling NL,
|
||
Ten Brink JB,
|
||
Florijn RJ,
|
||
Lissenberg-Witte BI,
|
||
Strubbe I,
|
||
van Cauwenbergh C,
|
||
de Zaeytijd J,
|
||
Walraedt S,
|
||
de Baere E,
|
||
Mukherjee R,
|
||
McKibbin M,
|
||
Meester-Smoor MA,
|
||
Thiadens AAHJ,
|
||
Al-Khuzaei S,
|
||
Akyol E,
|
||
Lotery AJ,
|
||
van Genderen MM,
|
||
Ossewaarde-van Norel J,
|
||
van den Born LI,
|
||
Hoyng CB,
|
||
Klaver CCW,
|
||
Downes SM,
|
||
Bergen AA,
|
||
Leroy BP,
|
||
Michaelides M,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Aug;6(8):711-722.
|
||
Epub 2022 Mar 18
|
||
doi: 10.1016/j.oret.2022.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35314386" target="_blank">35314386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31630094">Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu K,
|
||
Xie Y,
|
||
Sun T,
|
||
Zhang X,
|
||
Chen C,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Jul;104(7):932-937.
|
||
Epub 2019 Oct 19
|
||
doi: 10.1136/bjophthalmol-2019-314281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31630094" target="_blank">31630094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27686653">Available Evidence on Leber Congenital Amaurosis and Gene Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkharashi M,
|
||
Fulton AB</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2017;32(1):14-21.
|
||
Epub 2016 Sep 29
|
||
doi: 10.1080/08820538.2016.1228383.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27686653" target="_blank">27686653</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2014%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 (42)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38880373">Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Sun J,
|
||
Liu Z,
|
||
Wang H,
|
||
Zhou H,
|
||
Liu W,
|
||
Jia H,
|
||
Li N,
|
||
Li T,
|
||
Wang F,
|
||
Sun X</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:235-247.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.ajo.2024.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880373" target="_blank">38880373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38662103">Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
|
||
Huang L,
|
||
Xie Y,
|
||
Liu W,
|
||
Zhang S,
|
||
Liu L,
|
||
Lin P,
|
||
Li N</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2024 Sep;262(9):3029-3038.
|
||
Epub 2024 Apr 25
|
||
doi: 10.1007/s00417-024-06450-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38662103" target="_blank">38662103</a><a href="/pmc/articles/PMC11377616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37240262">Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zobor D,
|
||
Brühwiler B,
|
||
Zrenner E,
|
||
Weisschuh N,
|
||
Kohl S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 May 17;24(10)
|
||
doi: 10.3390/ijms24108915.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37240262" target="_blank">37240262</a><a href="/pmc/articles/PMC10219005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35314386">The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn LC,
|
||
Georgiou M,
|
||
Almushattat H,
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<div class="nl"><a target="_blank" href="/pubmed/32428231">Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/32428231" target="_blank">32428231</a><a href="/pmc/articles/PMC7405811" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38662103">Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
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Lee HS,
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Kim K,
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<div class="nl"><a target="_blank" href="/pubmed/32428231">Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uyhazi KE,
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Aravand P,
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Bell BA,
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Wei Z,
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Leo L,
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<div class="nl"><a target="_blank" href="/pubmed/23411883">Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.</a></div>
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Genead MA,
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Walia S,
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Drack AV,
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Stone EM,
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Koenekoop RK,
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Traboulsi EI,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2014%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38880373">Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
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Sun J,
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Liu Z,
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Wang H,
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Zhou H,
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Liu W,
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<div class="nl"><a target="_blank" href="/pubmed/38662103">Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
|
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Huang L,
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Xie Y,
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Liu W,
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Zhang S,
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Liu L,
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Lin P,
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Li N</span><br />
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<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
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2024 Sep;262(9):3029-3038.
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Epub 2024 Apr 25
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doi: 10.1007/s00417-024-06450-9.
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<span class="bold">PMID: </span><a href="/pubmed/38662103" target="_blank">38662103</a><a href="/pmc/articles/PMC11377616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/37460155">Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hanany M,
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Shalom S,
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Ben-Yosef T,
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Sharon D</span><br />
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<span class="medgenPMjournal">Cold Spring Harb Perspect Med</span>
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2024 Feb 1;14(2)
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doi: 10.1101/cshperspect.a041277.
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<span class="bold">PMID: </span><a href="/pubmed/37460155" target="_blank">37460155</a><a href="/pmc/articles/PMC10835612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
||
Lee HS,
|
||
Kim K,
|
||
Choi S,
|
||
Jang I,
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Cho SH,
|
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Yoon CK,
|
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Lee EK,
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Yu HG</span><br />
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<span class="medgenPMjournal">BMC Med Genomics</span>
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doi: 10.1186/s12920-021-00874-6.
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<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32428231">Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uyhazi KE,
|
||
Aravand P,
|
||
Bell BA,
|
||
Wei Z,
|
||
Leo L,
|
||
Serrano LW,
|
||
Pearson DJ,
|
||
Shpylchak I,
|
||
Pham J,
|
||
Vasireddy V,
|
||
Bennett J,
|
||
Aleman TS</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2020 May 11;61(5):30.
|
||
doi: 10.1167/iovs.61.5.30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32428231" target="_blank">32428231</a><a href="/pmc/articles/PMC7405811" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2014%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 (33)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35098484">Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sallum JMF,
|
||
Kaur VP,
|
||
Shaikh J,
|
||
Banhazi J,
|
||
Spera C,
|
||
Aouadj C,
|
||
Viriato D,
|
||
Fischer MD</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2022 Mar;39(3):1179-1198.
|
||
Epub 2022 Jan 30
|
||
doi: 10.1007/s12325-021-02036-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35098484" target="_blank">35098484</a><a href="/pmc/articles/PMC8918161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32059734">The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang X,
|
||
Yu C,
|
||
Tzekov RT,
|
||
Zhu Y,
|
||
Li W</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Feb 14;15(1):49.
|
||
doi: 10.1186/s13023-020-1304-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32059734" target="_blank">32059734</a><a href="/pmc/articles/PMC7023818" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2014%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
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|
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|
||
</div>
|
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|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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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=C2750063%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C2750063%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2750063%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C2750063%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2750063%5bDISCUI%5d" target="_blank">See all (42)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613341" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Leber%20congenital%20amaurosis%2014" target="_blank">ClinicalTrials.gov</a></li></ul></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=(leber%20congenital%20amaurosis%2014)%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb563db15b832ebc1abcd1">Leber congenital amaurosis 14</a>
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