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1033 lines
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<meta name="keywords" content="C0476397, abnormal electroretinogram, abnormal electroretinogram (erg), abnormal electroretinography, abnormal erg, electroretinogram abnormal, erg abnormal, finding, 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="Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=96908
|
||
ConceptID=C0476397
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal electroretinogram</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96908</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:">C0476397</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal electroretinogram (ERG); Abnormal ERG</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Electroretinogram abnormal (274524001)</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:0000512">HP:0000512</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0476397[DISCUI]&test_type=Clinical" ref="ncbi_uid=96908">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=96908" ref="ncbi_uid=96908">V</a></span></span><span class="TLline">Abnormal electroretinogram</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/892656" ref="tree=MeSH" title="MedGen record for Abnormal visual electrophysiology">Abnormal visual electrophysiology</a></span><ul><li><span class="matched_ds">Abnormal electroretinogram</span><ul><li><span class="TLline"><a href="/medgen/892525" ref="tree=MeSH" title="MedGen record for Abnormal full-field electroretinogram">Abnormal full-field electroretinogram</a></span><ul><li><span class="TLline"><a href="/medgen/892655" ref="tree=MeSH" title="MedGen record for Abnormal dark-adapted electroretinogram">Abnormal dark-adapted electroretinogram</a></span><ul><li><span class="TLline"><a href="/medgen/892715" ref="tree=MeSH" title="MedGen record for Abnormal dark-adapted bright flash electroretinogram">Abnormal dark-adapted bright flash electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/892918" ref="tree=MeSH" title="MedGen record for Abnormal dark-adapted dim flash electroretinogram">Abnormal dark-adapted dim flash electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/892616" ref="tree=MeSH" title="MedGen record for Undetectable dark-adapted electroretinogram">Undetectable dark-adapted electroretinogram</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462461" ref="tree=MeSH" title="MedGen record for Abnormal light- and dark-adapted electroretinogram">Abnormal light- and dark-adapted electroretinogram</a></span><ul><li><span class="TLline"><a href="/medgen/326793" ref="tree=MeSH" title="MedGen record for Decreased light- and dark-adapted electroretinogram amplitude">Decreased light- and dark-adapted electroretinogram amplitude</a></span></li><li><span class="TLline"><a href="/medgen/867212" ref="tree=MeSH" title="MedGen record for Undetectable light- and dark-adapted electroretinogram">Undetectable light- and dark-adapted electroretinogram</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870271" ref="tree=MeSH" title="MedGen record for Abnormal light-adapted electroretinogram">Abnormal light-adapted electroretinogram</a></span><ul><li><span class="TLline"><a href="/medgen/892764" ref="tree=MeSH" title="MedGen record for Abnormal light-adapted flicker electroretinogram">Abnormal light-adapted flicker electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/892887" ref="tree=MeSH" title="MedGen record for Abnormal light-adapted single flash electroretinogram">Abnormal light-adapted single flash electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/893040" ref="tree=MeSH" title="MedGen record for Undetectable light-adapted electroretinogram">Undetectable light-adapted electroretinogram</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/892908" ref="tree=MeSH" title="MedGen record for Abnormal multifocal electroretinogram">Abnormal multifocal electroretinogram</a></span><ul><li><span class="TLline"><a href="/medgen/892776" ref="tree=MeSH" title="MedGen record for Abnormal central response of multifocal electroretinogram">Abnormal central response of multifocal electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/892904" ref="tree=MeSH" title="MedGen record for Abnormal paracentral response of multifocal electroretinogram">Abnormal paracentral response of multifocal electroretinogram</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892628" ref="tree=MeSH" title="MedGen record for Abnormal pattern electroretinogram">Abnormal pattern electroretinogram</a></span><ul><li><span class="TLline"><a href="/medgen/892743" ref="tree=MeSH" title="MedGen record for Abnormal amplitude of pattern electroretinogram">Abnormal amplitude of pattern electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/892614" ref="tree=MeSH" title="MedGen record for Abnormal P50/N95 ratio of pattern electroretinogram">Abnormal P50/N95 ratio of pattern electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/892496" ref="tree=MeSH" title="MedGen record for Abnormal timing of pattern electroretinogram">Abnormal timing of pattern electroretinogram</a></span></li><li><span class="TLline"><a href="/medgen/900781" ref="tree=MeSH" title="MedGen record for Undetectable pattern electroretinogram">Undetectable pattern electroretinogram</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/383742" ref="tree=MeSH" title="MedGen record for Undetectable electroretinogram">Undetectable electroretinogram</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_66167"><div><strong>Proliferative vitreoretinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66167</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.">C0242852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162903"><div><strong>Deafness dystonia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162903</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.">C0796074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning at approximately age 20 years, and dementia beginning at approximately age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment appears to be consistent in age of onset and progression, whereas the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162903">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_292820"><div><strong>Usher syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>292820</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.">C1568247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/292820">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372159"><div><strong>Retinitis pigmentosa 31</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372159</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.">C1835923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372159">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332931"><div><strong>Joubert syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332931</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.">C1837713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332931">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334168"><div><strong>Retinitis pigmentosa 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334168</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.">C1842475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334168">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334499"><div><strong>Bothnia retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334499</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.">C1843816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bothnia retinal dystrophy is an autosomal recessive disorder with onset of night blindness in childhood. The fundus has a characteristic appearance with yellow-white spots, and at later stages patients develop widespread retinal degeneration with areas of chorioretinal atrophy (summary by Granse et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334499">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338164"><div><strong>Sorsby fundus dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338164</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.">C1850938</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sorsby fundus dystrophy (SFD) is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by Wijesuriya et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338164">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344245"><div><strong>Leber congenital amaurosis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344245</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.">C1854260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344245">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350678"><div><strong>Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350678</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.">C1862472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400996"><div><strong>Retinitis pigmentosa 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400996</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.">C1866422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400996">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356747"><div><strong>Retinal cone dystrophy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356747</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.">C1867326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356747">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411553"><div><strong>Vitelliform macular dystrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411553</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.">C2745945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413025"><div><strong>Cone-rod dystrophy 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413025</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.">C2750720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413025">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442563"><div><strong>Retinitis pigmentosa 50</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442563</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.">C2750789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462041"><div><strong>Retinitis pigmentosa 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462041</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.">C3150691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-54 (RP54) is characterized by typical signs of RP, including poor night vision and peripheral field loss, retinal bone spicule-type pigment deposits, pale optic discs, and markedly reduced or extinguished responses on electroretinography. Atypical features that have been observed include early degeneration of the cone photoreceptor system with macular abnormalities, and ring scotoma on the visual field (Collin et al., 2010). Patients may exhibit an early-onset form of cone-rod dystrophy (CORD23), with central vision loss and ring scotoma around the fovea that progresses to marked chorioretinal atrophy in the macular area (Serra et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. For a general phenotypic description and discussion of genetic heterogeneity of cone-rod dystrophy, see CORD2 (120970).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462351"><div><strong>Retinitis pigmentosa 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462351</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.">C3151001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462351">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462416"><div><strong>Retinitis pigmentosa 45</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462416</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.">C3151066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462416">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462488"><div><strong>Retinitis pigmentosa 39</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462488</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.">C3151138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462488">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462489"><div><strong>Retinitis pigmentosa 43</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462489</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.">C3151139</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-43 (RP43) is characterized by night blindness in the first decade of life, with progressive loss of peripheral visual fields and reduction in visual acuity. Examination reveals typical features of RP, including waxy pallor of optic disc, attenuated retinal vessels, and bone-spicule pigment in midperipheral retina. Macular edema and/or atrophy has been observed in some patients. Electroretinographic responses are markedly reduced or absent (summary by Huang et al., 1995 and Corton et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462489">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481729"><div><strong>Craniofacial anomalies and anterior segment dysgenesis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481729</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.">C3280099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481729">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483485"><div><strong>Cone-rod dystrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483485</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.">C3489532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy There are several other autosomal forms of CORD for which the molecular basis is known. CORD3 (604116) is caused by mutation in the ABCA4 gene (601691) on chromosome 1p22. CORD5 (600977) is caused by mutation in the PITPNM3 gene (608921) on chromosome 17p13. CORD6 (601777) is caused by mutation in the GUCY2D gene (600179) on chromosome 17p13.1. CORD9 (612775) is caused by mutation in the ADAM9 gene (602713) on chromosome 8p11. CORD10 (610283) is caused by mutation in the SEMA4A gene (607292) on chromosome 1q22. CORD11 (610381) is caused by mutation in the RAXL1 gene (610362) on chromosome 19p13. CORD12 (612657) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. CORD13 (608194) is caused by mutation in the RPGRIP1 gene (605446) on chromosome 14q11. CORD14 (see 602093) is caused by mutation in the GUCA1A gene (600364) on chromosome 6p21. CORD15 (613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. CORD16 (614500) is caused by mutation in the C8ORF37 gene (614477) on chromosome 8q22. CORD18 (615374) is caused by mutation in the RAB28 gene (612994) on chromosome 4p15. CORD19 (615860) is caused by mutation in the TTLL5 gene (612268) on chromosome 14q24. CORD20 (615973) is caused by mutation in the POC1B gene (614784) on chromosome 12q21. CORD21 (616502) is caused by mutation in the DRAM2 gene (613360) on chromosome 1p13. CORD22 (619531) is caused by mutation in the TLCD3B gene (615175) on chromosome 16p11. CORD23 (see 613428) is caused by mutation in the C2ORF71 gene (PCARE; 613425) on chromosome 2p23. CORD24 (620342) is caused by mutation in the UNC119 gene (604011) on chromosome 17q11. A diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene (604392.0004) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene (604011.0001) on chromosome 17q11.2. Other mapped loci for autosomal CORD include CORD1 (600624) on chromosome 18q21.1-q21.3; CORD7 (603649) on chromosome 6q14; CORD8 (605549) on chromosome 1q12-q24; and CORD17 (615163) on chromosome 10q26. For a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 (304020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483485">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854716"><div><strong>Macular dystrophy, retinal, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854716</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.">C3888009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854716">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863956"><div><strong>Developmental and epileptic encephalopathy, 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863956</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.">C4015519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by Mignot et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863956">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895764"><div><strong>Joubert syndrome 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895764</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.">C4084842</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905041"><div><strong>Cerebellar atrophy, visual impairment, and psychomotor retardation;</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905041</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.">C4225172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897984"><div><strong>Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897984</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.">C4225351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897984">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1634330"><div><strong>Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634330</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.">C4551768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634330">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648474"><div><strong>Peroxisome biogenesis disorder 1A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648474</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.">C4721541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648474">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1768962"><div><strong>Optic atrophy 13 with retinal and foveal abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1768962</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.">C5435585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Optic atrophy-13 with retinal and foveal abnormalities (OPA13) is an autosomal dominant disorder characterized by decreased visual acuity due to bilateral optic atrophy. Difficulties with color vision may also be apparent. The age at onset varies widely: most patients have onset in the first decade, but later onset even into adulthood has been reported. In addition to optic atrophy, most patients develop retinal pigmentary involvement and abnormal appearance of the fovea. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. The disorder is associated with variable signs of mitochondrial dysfunction, including altered morphology, mtDNA depletion, and defective mtDNA replication (summary by Del Dotto et al., 2020, Piro-Megy et al., 2020). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1768962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794177"><div><strong>DEGCAGS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794177</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.">C5561967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794177">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800300"><div><strong>Gnb5-related intellectual disability-cardiac arrhythmia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800300</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.">C5568877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNB5-related neurodevelopmental disorder (GNB5-NDD) is characterized by a spectrum of neurodevelopmental phenotypes that range from severe-to-profound intellectual disability (ID; 31/41 reported individuals), to mild-to-moderate ID (5/41), to normal intellect with severe language disorder (5/41, one extended family). A unique and specific feature of GNB5-NDD – regardless of neurodevelopmental phenotype – is nearly universal bradycardia caused by sinoatrial node dysfunction (sick sinus syndrome). Most individuals with severe and profound ID have a developmental and epileptic encephalopathy with focal seizures or epileptic spasms, as well as visual impairment (central or retinal) with nystagmus, difficulty feeding, and gastroesophageal reflux disease. The risk of early mortality is increased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800300">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bothnia retinal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy, visual impairment, and psychomotor retardation;</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 13</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (33)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 2</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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial anomalies and anterior segment dysgenesis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness dystonia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794177" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DEGCAGS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gnb5-related intellectual disability-cardiac arrhythmia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 25</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular dystrophy, retinal, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1768962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy 13 with retinal and foveal abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 1A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proliferative vitreoretinopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal cone dystrophy type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 31</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 39</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 43</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 45</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 50</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 54</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334168" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sorsby fundus dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_292820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Usher syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitelliform macular dystrophy 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/18479386">Vigabatrin in the treatment of childhood epilepsy: a retrospective chart review of efficacy and safety profile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camposano SE,
|
||
Major P,
|
||
Halpern E,
|
||
Thiele EA</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Jul;49(7):1186-91.
|
||
doi: 10.1111/j.1528-1167.2008.01589.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18479386" target="_blank">18479386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14623502">Eicosapentaenoic acid in the treatment of schizophrenia and depression: rationale and preliminary double-blind clinical trial results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peet M</span><br />
|
||
<span class="medgenPMjournal">Prostaglandins Leukot Essent Fatty Acids</span>
|
||
2003 Dec;69(6):477-85.
|
||
doi: 10.1016/j.plefa.2003.08.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14623502" target="_blank">14623502</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22abnormal%20electroretinogram%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39693487">BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singuri S,
|
||
DeBenedictis MJ,
|
||
Traboulsi EI,
|
||
Yuan A,
|
||
Schur RM</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2025 Jan 1;19(1):129-134.
|
||
Epub 2023 Dec 5
|
||
doi: 10.1097/ICB.0000000000001520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39693487" target="_blank">39693487</a><a href="/pmc/articles/PMC11150326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31342828">A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gumus E,
|
||
Ozgur A</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2020 Jun;39(3):251-258.
|
||
Epub 2019 Jul 25
|
||
doi: 10.1080/15513815.2019.1644687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31342828" target="_blank">31342828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30535423">Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litke AM,
|
||
Samuelson S,
|
||
Delaney KR,
|
||
Sauvé Y,
|
||
Chow RL</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2018 Dec 3;59(15):5824-5835.
|
||
doi: 10.1167/iovs.18-25490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30535423" target="_blank">30535423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1897520">Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheffield VC,
|
||
Fishman GA,
|
||
Beck JS,
|
||
Kimura AE,
|
||
Stone EM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1991 Oct;49(4):699-706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1897520" target="_blank">1897520</a><a href="/pmc/articles/PMC1683182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/655918">Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noble KG,
|
||
Carr RE</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1978 May;96(5):818-21.
|
||
doi: 10.1001/archopht.1978.03910050424004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/655918" target="_blank">655918</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20electroretinogram%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39693487">BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singuri S,
|
||
DeBenedictis MJ,
|
||
Traboulsi EI,
|
||
Yuan A,
|
||
Schur RM</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2025 Jan 1;19(1):129-134.
|
||
Epub 2023 Dec 5
|
||
doi: 10.1097/ICB.0000000000001520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39693487" target="_blank">39693487</a><a href="/pmc/articles/PMC11150326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31342828">A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gumus E,
|
||
Ozgur A</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2020 Jun;39(3):251-258.
|
||
Epub 2019 Jul 25
|
||
doi: 10.1080/15513815.2019.1644687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31342828" target="_blank">31342828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25439305">Improved visual function with dietary intervention in a child with lipemia retinalis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu V,
|
||
Scanga HL,
|
||
Medsinge A,
|
||
Nischal KK</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2014 Oct;18(5):488-90.
|
||
Epub 2014 Oct 21
|
||
doi: 10.1016/j.jaapos.2014.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25439305" target="_blank">25439305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10025515">Through a shade darkly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purvin V</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
1999 Jan-Feb;43(4):335-40.
|
||
doi: 10.1016/s0039-6257(98)00050-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10025515" target="_blank">10025515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8730949">Abnormal electroretinogram in cocaine-dependent patients. Relationship to craving.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roy M,
|
||
Smelson DA,
|
||
Roy A</span><br />
|
||
<span class="medgenPMjournal">Br J Psychiatry</span>
|
||
1996 Apr;168(4):507-11.
|
||
doi: 10.1192/bjp.168.4.507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8730949" target="_blank">8730949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20electroretinogram%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38387657">Maternal exposure to polystyrene nanoplastics causes defective retinal development and function in progeny mice by disturbing metabolic profiles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong S,
|
||
He J,
|
||
Qiu H,
|
||
van Gestel CAM,
|
||
He E,
|
||
Qiao Z,
|
||
Cao L,
|
||
Li J,
|
||
Chen G</span><br />
|
||
<span class="medgenPMjournal">Chemosphere</span>
|
||
2024 Mar;352:141513.
|
||
Epub 2024 Feb 20
|
||
doi: 10.1016/j.chemosphere.2024.141513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38387657" target="_blank">38387657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34160455">A rare asymptomatic metallic intraocular foreign body retained in the anterior chamber for 15 years: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He N,
|
||
Lv Z</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Jun 25;100(25):e26470.
|
||
doi: 10.1097/MD.0000000000026470.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34160455" target="_blank">34160455</a><a href="/pmc/articles/PMC8238337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31282209">A case report of acute zonal occult outer retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaye R,
|
||
De Salvo G</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2019 Jul;29(1_suppl):27-31.
|
||
Epub 2019 Jul 8
|
||
doi: 10.1177/1120672119853143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31282209" target="_blank">31282209</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10025515">Through a shade darkly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purvin V</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
1999 Jan-Feb;43(4):335-40.
|
||
doi: 10.1016/s0039-6257(98)00050-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10025515" target="_blank">10025515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8730949">Abnormal electroretinogram in cocaine-dependent patients. Relationship to craving.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roy M,
|
||
Smelson DA,
|
||
Roy A</span><br />
|
||
<span class="medgenPMjournal">Br J Psychiatry</span>
|
||
1996 Apr;168(4):507-11.
|
||
doi: 10.1192/bjp.168.4.507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8730949" target="_blank">8730949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20electroretinogram%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32833400">Case Report: Long-term Structural and Functional Effects of Ethambutol Optic Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Addy LK,
|
||
Harrison WW</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2020 Aug;97(8):555-560.
|
||
doi: 10.1097/OPX.0000000000001552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32833400" target="_blank">32833400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18479386">Vigabatrin in the treatment of childhood epilepsy: a retrospective chart review of efficacy and safety profile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camposano SE,
|
||
Major P,
|
||
Halpern E,
|
||
Thiele EA</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2008 Jul;49(7):1186-91.
|
||
doi: 10.1111/j.1528-1167.2008.01589.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18479386" target="_blank">18479386</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11281458">A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boycott KM,
|
||
Maybaum TA,
|
||
Naylor MJ,
|
||
Weleber RG,
|
||
Robitaille J,
|
||
Miyake Y,
|
||
Bergen AA,
|
||
Pierpont ME,
|
||
Pearce WG,
|
||
Bech-Hansen NT</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2001 Feb;108(2):91-7.
|
||
doi: 10.1007/s004390100461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11281458" target="_blank">11281458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9221785">Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang JT,
|
||
Milligan S,
|
||
Li Y,
|
||
Chew CE,
|
||
Wiggs J,
|
||
Copeland NG,
|
||
Jenkins NA,
|
||
Campochiaro PA,
|
||
Hyde DR,
|
||
Zack DJ</span><br />
|
||
<span class="medgenPMjournal">J Neurosci</span>
|
||
1997 Aug 1;17(15):5881-90.
|
||
doi: 10.1523/JNEUROSCI.17-15-05881.1997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9221785" target="_blank">9221785</a><a href="/pmc/articles/PMC6573195" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9152066">Autoimmune retinopathy in the absence of cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mizener JB,
|
||
Kimura AE,
|
||
Adamus G,
|
||
Thirkill CE,
|
||
Goeken JA,
|
||
Kardon RH</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1997 May;123(5):607-18.
|
||
doi: 10.1016/s0002-9394(14)71073-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9152066" target="_blank">9152066</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20electroretinogram%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38387657">Maternal exposure to polystyrene nanoplastics causes defective retinal development and function in progeny mice by disturbing metabolic profiles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong S,
|
||
He J,
|
||
Qiu H,
|
||
van Gestel CAM,
|
||
He E,
|
||
Qiao Z,
|
||
Cao L,
|
||
Li J,
|
||
Chen G</span><br />
|
||
<span class="medgenPMjournal">Chemosphere</span>
|
||
2024 Mar;352:141513.
|
||
Epub 2024 Feb 20
|
||
doi: 10.1016/j.chemosphere.2024.141513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38387657" target="_blank">38387657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33919796">Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marino V,
|
||
Dal Cortivo G,
|
||
Maltese PE,
|
||
Placidi G,
|
||
De Siena E,
|
||
Falsini B,
|
||
Bertelli M,
|
||
Dell'Orco D</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 14;22(8)
|
||
doi: 10.3390/ijms22084030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33919796" target="_blank">33919796</a><a href="/pmc/articles/PMC8070792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30535423">Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litke AM,
|
||
Samuelson S,
|
||
Delaney KR,
|
||
Sauvé Y,
|
||
Chow RL</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2018 Dec 3;59(15):5824-5835.
|
||
doi: 10.1167/iovs.18-25490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30535423" target="_blank">30535423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27993590">Prevalence of Antiretinal Antibodies in Acute Zonal Occult Outer Retinopathy: A Comprehensive Review of 25 Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qian CX,
|
||
Wang A,
|
||
DeMill DL,
|
||
Jayasundera T,
|
||
Branham K,
|
||
Abalem MF,
|
||
Khan N,
|
||
Heckenlively JR</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2017 Apr;176:210-218.
|
||
Epub 2016 Dec 18
|
||
doi: 10.1016/j.ajo.2016.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27993590" target="_blank">27993590</a><a href="/pmc/articles/PMC6605038" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8730949">Abnormal electroretinogram in cocaine-dependent patients. Relationship to craving.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roy M,
|
||
Smelson DA,
|
||
Roy A</span><br />
|
||
<span class="medgenPMjournal">Br J Psychiatry</span>
|
||
1996 Apr;168(4):507-11.
|
||
doi: 10.1192/bjp.168.4.507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8730949" target="_blank">8730949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20electroretinogram%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 (13)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0476397%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
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<li><a href="/gtr/tests?term=C0476397%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
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