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<meta name="keywords" content="C0339535, congenital abnormality, congenital essential nyctalopia, congenital night blindness, congenital stationary night blindness, csnb - congenital stationary night blindness, hereditary night blindness, night blindness since birth, night blindness, congenital, night blindness, congenital stationary, night blindness, congenital stationary, complete, night blindness, stationary, static congenital hemeralopia, 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="A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=83289
|
||
ConceptID=C0339535
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital stationary night blindness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83289</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.">C0339535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Night blindness, congenital stationary</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>CSNB - Congenital stationary night blindness (232061009); Congenital stationary night blindness (232061009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/60506">NYX</a>, <a target="_blank" href="/gene/4308">TRPM1</a>, <a target="_blank" href="/gene/2916">GRM6</a>, <a target="_blank" href="/gene/778">CACNA1F</a></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:0007642">HP:0007642</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016293" target="_blank">MONDO:0016293</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS310500" target="_blank">PS310500</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=215">ORPHA215</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0339535[DISCUI]&test_type=Clinical" ref="ncbi_uid=83289">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=83289" ref="ncbi_uid=83289">V</a></span></span><span class="TLline">Congenital stationary night blindness</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850362[DISCUI]&test_type=Clinical" ref="ncbi_uid=342484">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342484" target="_blank" href="/omim/257270">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342484" ref="ncbi_uid=342484">V</a></span></span><span class="TLline"><a href="/medgen/342484" ref="tree=GTR&ncbi_uid=342484&link_uid=342484" title="View MedGen record for 'Congenital stationary night blindness 1B'">Congenital stationary night blindness 1B</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=C2750747[DISCUI]&test_type=Clinical" ref="ncbi_uid=416373">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416373" target="_blank" href="/omim/603576">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416373" ref="ncbi_uid=416373">V</a></span></span><span class="TLline"><a href="/medgen/416373" ref="tree=GTR&ncbi_uid=416373&link_uid=416373" title="View MedGen record for 'Congenital stationary night blindness 1C'">Congenital stationary night blindness 1C</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=CN043584[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=448009">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1245/" ref="ncbi_uid=448009">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=448009" ref="ncbi_uid=448009">V</a></span></span><span class="TLline"><a href="/medgen/448009" ref="tree=GTR&ncbi_uid=448009&link_uid=448009" title="View MedGen record for 'X-linked congenital stationary night blindness'">X-linked congenital stationary night blindness</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=C3495587[DISCUI]&test_type=Clinical" ref="ncbi_uid=501208">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501208" target="_blank" href="/omim/300278">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1245/" ref="ncbi_uid=501208">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501208" ref="ncbi_uid=501208">V</a></span></span><span class="TLline"><a href="/medgen/501208" ref="tree=GTR&ncbi_uid=501208&link_uid=501208" title="View MedGen record for 'Congenital stationary night blindness 1A'">Congenital stationary night blindness 1A</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=C1848172[DISCUI]&test_type=Clinical" ref="ncbi_uid=376299">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376299" target="_blank" href="/omim/300071">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1245/" ref="ncbi_uid=376299">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376299" ref="ncbi_uid=376299">V</a></span></span><span class="TLline"><a href="/medgen/376299" ref="tree=GTR&ncbi_uid=376299&link_uid=376299" title="View MedGen record for 'Congenital stationary night blindness 2A'">Congenital stationary night blindness 2A</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="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/10349" ref="tree=MeSH" title="MedGen record for Night blindness">Night blindness</a></span><ul><li><span class="matched_ds">Congenital stationary night blindness</span><ul><li><span class="TLline"><a href="/medgen/342484" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness 1B">Congenital stationary night blindness 1B</a></span></li><li><span class="TLline"><a href="/medgen/416373" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness 1C">Congenital stationary night blindness 1C</a></span></li><li><span class="TLline"><a href="/medgen/892660" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness with abnormal fundus">Congenital stationary night blindness with abnormal fundus</a></span><ul><li><span class="TLline"><a href="/medgen/86317" ref="tree=MeSH" title="MedGen record for Pigmentary retinal dystrophy">Pigmentary retinal dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892940" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness with normal fundus">Congenital stationary night blindness with normal fundus</a></span><ul><li><span class="TLline"><a href="/medgen/881697" ref="tree=MeSH" title="MedGen record for Complete congenital stationary night blindness">Complete congenital stationary night blindness</a></span></li><li><span class="TLline"><a href="/medgen/892632" ref="tree=MeSH" title="MedGen record for Incomplete congenital stationary night blindness">Incomplete congenital stationary night blindness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/448009" ref="tree=MeSH" title="MedGen record for X-linked congenital stationary night blindness">X-linked congenital stationary night blindness</a></span><ul><li><span class="TLline"><a href="/medgen/501208" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness 1A">Congenital stationary night blindness 1A</a></span></li><li><span class="TLline"><a href="/medgen/376299" ref="tree=MeSH" title="MedGen record for Congenital stationary night blindness 2A">Congenital stationary night blindness 2A</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=923&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital stationary night blindness</span> in Orphanet.</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_375076"><div><strong>Autosomal recessive nonsyndromic hearing loss 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375076</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.">C1843028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375076">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376299"><div><strong>Congenital stationary night blindness 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376299</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.">C1848172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376299">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342484"><div><strong>Congenital stationary night blindness 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342484</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.">C1850362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).\n\nThe vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342484">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355852"><div><strong>Congenital stationary night blindness autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355852</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.">C1864869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355852">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355313"><div><strong>Congenital stationary night blindness autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355313</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.">C1864870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355313">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_361814"><div><strong>Congenital stationary night blindness autosomal dominant 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>361814</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.">C1876182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/361814">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_416373"><div><strong>Congenital stationary night blindness 1C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416373</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.">C2750747</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 vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.\n\nAutosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/416373">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462028"><div><strong>Oguchi disease-2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462028</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.">C3150678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). For a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 (258100).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462028">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462543"><div><strong>Congenital stationary night blindness 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462543</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.">C3151193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462543">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482845"><div><strong>Congenital stationary night blindness 1E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482845</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.">C3281215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by Peachey et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482845">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_501208"><div><strong>Congenital stationary night blindness 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501208</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.">C3495587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/501208">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767313"><div><strong>Congenital stationary night blindness 1F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767313</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.">C3554399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).\n\nThe vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767313">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_874422"><div><strong>Cone-rod synaptic disorder, congenital nonprogressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>874422</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.">C4041558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital nonprogressive cone-rod synaptic disorder (CRSD) is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/874422">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_906532"><div><strong>Congenital stationary night blindness 1G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906532</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.">C4225345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PPP2R5D-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability. Affected individuals have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; and delayed speech development. Recurrent seizures (epilepsy) and autism spectrum disorder, which is characterized by impaired communications and social interaction, can also occur in affected individuals. Most people with PPP2R5D-related intellectual disability have an unusually large head size (macrocephaly), and some have other unusual facial features, including a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), and eyes that slant downward (downslanting palpebral fissures).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/906532">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1645330"><div><strong>Oguchi disease-1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645330</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.">C4551824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1645330">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375076" 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 37</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_874422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod synaptic disorder, congenital nonprogressive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1C</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1F</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 1G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness autosomal dominant 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_361814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness autosomal dominant 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stationary night blindness autosomal dominant 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oguchi disease-1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oguchi disease-2</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38522615">Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katta M,
|
||
de Guimaraes TAC,
|
||
Fujinami-Yokokawa Y,
|
||
Fujinami K,
|
||
Georgiou M,
|
||
Mahroo OA,
|
||
Webster AR,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2024 Sep;8(9):932-941.
|
||
Epub 2024 Mar 24
|
||
doi: 10.1016/j.oret.2024.03.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38522615" target="_blank">38522615</a><a href="/pmc/articles/PMC11752838" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33749171">Panel-based genetic testing for inherited retinal disease screening 176 genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheck LHN,
|
||
Esposti SD,
|
||
Mahroo OA,
|
||
Arno G,
|
||
Pontikos N,
|
||
Wright G,
|
||
Webster AR,
|
||
Khan KN,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Dec;9(12):e1663.
|
||
Epub 2021 Mar 22
|
||
doi: 10.1002/mgg3.1663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33749171" target="_blank">33749171</a><a href="/pmc/articles/PMC8683638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25307992">Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeitz C,
|
||
Robson AG,
|
||
Audo I</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2015 Mar;45:58-110.
|
||
Epub 2014 Oct 13
|
||
doi: 10.1016/j.preteyeres.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25307992" target="_blank">25307992</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20stationary%20night%20blindness%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 (11)</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/39079892">Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Igelman AD,
|
||
White E,
|
||
Tayyib A,
|
||
Everett L,
|
||
Vincent A,
|
||
Heon E,
|
||
Zeitz C,
|
||
Michaelides M,
|
||
Mahroo OA,
|
||
Katta M,
|
||
Webster A,
|
||
Preising M,
|
||
Lorenz B,
|
||
Khateb S,
|
||
Banin E,
|
||
Sharon D,
|
||
Luski S,
|
||
Van Den Broeck F,
|
||
Leroy BP,
|
||
De Baere E,
|
||
Walraedt S,
|
||
Stingl K,
|
||
Kuehlewein L,
|
||
Kohl S,
|
||
Reith M,
|
||
Fulton A,
|
||
Raghuram A,
|
||
Meunier I,
|
||
Dollfus H,
|
||
Aleman TS,
|
||
Bedoukian EC,
|
||
O'Neil EC,
|
||
Krauss E,
|
||
Vincent A,
|
||
Jordan C,
|
||
Iannaccone A,
|
||
Sen P,
|
||
Sundaramurthy S,
|
||
Nagasamy S,
|
||
Balikova I,
|
||
Casteels I,
|
||
Borooah S,
|
||
Yassin S,
|
||
Nagiel A,
|
||
Schwartz H,
|
||
Zanlonghi X,
|
||
Gottlob I,
|
||
McLean RJ,
|
||
Munier FL,
|
||
Stephenson A,
|
||
Sisk R,
|
||
Koenekoop R,
|
||
Wilson LB,
|
||
Fredrick D,
|
||
Choi D,
|
||
Yang P,
|
||
Pennesi ME</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2025 Jan 28;109(2):286-292.
|
||
doi: 10.1136/bjo-2023-323747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39079892" target="_blank">39079892</a><a href="/pmc/articles/PMC11774682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33749171">Panel-based genetic testing for inherited retinal disease screening 176 genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheck LHN,
|
||
Esposti SD,
|
||
Mahroo OA,
|
||
Arno G,
|
||
Pontikos N,
|
||
Wright G,
|
||
Webster AR,
|
||
Khan KN,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Dec;9(12):e1663.
|
||
Epub 2021 Mar 22
|
||
doi: 10.1002/mgg3.1663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33749171" target="_blank">33749171</a><a href="/pmc/articles/PMC8683638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25307992">Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeitz C,
|
||
Robson AG,
|
||
Audo I</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2015 Mar;45:58-110.
|
||
Epub 2014 Oct 13
|
||
doi: 10.1016/j.preteyeres.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25307992" target="_blank">25307992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24756714">TRPM1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irie S,
|
||
Furukawa T</span><br />
|
||
<span class="medgenPMjournal">Handb Exp Pharmacol</span>
|
||
2014;222:387-402.
|
||
doi: 10.1007/978-3-642-54215-2_15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24756714" target="_blank">24756714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22183355">Congenital stationary night blindness: mutation update and clinical variability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lodha N,
|
||
Loucks CM,
|
||
Beaulieu C,
|
||
Parboosingh JS,
|
||
Bech-Hansen NT</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;723:371-9.
|
||
doi: 10.1007/978-1-4614-0631-0_48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22183355" target="_blank">22183355</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20stationary%20night%20blindness%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 (93)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35446361">SLC24A1-Associated Congenital Stationary Night Blindness in a Woman With an Abnormal Fundus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marques JP,
|
||
Chaves J</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2022 Apr 1;140(4):e216343.
|
||
Epub 2022 Apr 21
|
||
doi: 10.1001/jamaophthalmol.2021.6343.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35446361" target="_blank">35446361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33749171">Panel-based genetic testing for inherited retinal disease screening 176 genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheck LHN,
|
||
Esposti SD,
|
||
Mahroo OA,
|
||
Arno G,
|
||
Pontikos N,
|
||
Wright G,
|
||
Webster AR,
|
||
Khan KN,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Dec;9(12):e1663.
|
||
Epub 2021 Mar 22
|
||
doi: 10.1002/mgg3.1663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33749171" target="_blank">33749171</a><a href="/pmc/articles/PMC8683638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32860923">The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Silva SR,
|
||
Arno G,
|
||
Robson AG,
|
||
Fakin A,
|
||
Pontikos N,
|
||
Mohamed MD,
|
||
Bird AC,
|
||
Moore AT,
|
||
Michaelides M,
|
||
Webster AR,
|
||
Mahroo OA</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2021 May;82:100898.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1016/j.preteyeres.2020.100898.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32860923" target="_blank">32860923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25307992">Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeitz C,
|
||
Robson AG,
|
||
Audo I</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2015 Mar;45:58-110.
|
||
Epub 2014 Oct 13
|
||
doi: 10.1016/j.preteyeres.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25307992" target="_blank">25307992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15336981">L-type Ca2+ channels in Ca2+ channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Striessnig J,
|
||
Hoda JC,
|
||
Koschak A,
|
||
Zaghetto F,
|
||
Müllner C,
|
||
Sinnegger-Brauns MJ,
|
||
Wild C,
|
||
Watschinger K,
|
||
Trockenbacher A,
|
||
Pelster G</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2004 Oct 1;322(4):1341-6.
|
||
doi: 10.1016/j.bbrc.2004.08.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15336981" target="_blank">15336981</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20stationary%20night%20blindness%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 (180)</a></div><h3 class="subhead">Therapy</h3>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20stationary%20night%20blindness%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 (74)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36499293">Congenital Stationary Night Blindness: Clinical and Genetic Features.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kim AH,
|
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Liu PK,
|
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Chang YH,
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Kang EY,
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Wang HH,
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Chen N,
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Tseng YJ,
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Seo GH,
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Tsang SH,
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2022 Nov 29;23(23)
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doi: 10.3390/ijms232314965.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36499293" target="_blank">36499293</a><a href="/pmc/articles/PMC9740538" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33749171">Panel-based genetic testing for inherited retinal disease screening 176 genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheck LHN,
|
||
Esposti SD,
|
||
Mahroo OA,
|
||
Arno G,
|
||
Pontikos N,
|
||
Wright G,
|
||
Webster AR,
|
||
Khan KN,
|
||
Michaelides M</span><br />
|
||
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|
||
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|
||
Epub 2021 Mar 22
|
||
doi: 10.1002/mgg3.1663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33749171" target="_blank">33749171</a><a href="/pmc/articles/PMC8683638" 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,
|
||
Cho SH,
|
||
Yoon CK,
|
||
Lee EK,
|
||
Yu HG</span><br />
|
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<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Mar 10;14(1):74.
|
||
doi: 10.1186/s12920-021-00874-6.
|
||
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20stationary%20night%20blindness%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 (101)</a></div></div>
|
||
</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0339535%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0339535%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0339535%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0339535%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0339535%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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