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<!--
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||
UID=195995
|
||
ConceptID=C0700501
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital nystagmus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195995</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.">C0700501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Congenital Nystagmus; Nystagmus, Congenital</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital nystagmus (64635004)</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:0006934">HP:0006934</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005712" target="_blank">MONDO:0005712</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS310700" target="_blank">PS310700</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">Nystagmus dating from or present at birth. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0700501[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=195995">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=195995" ref="ncbi_uid=195995">V</a></span></span><span class="TLline">Congenital nystagmus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/9460" ref="tree=MeSH" title="MedGen record for Neonatal disorder">Neonatal disorder</a></span><ul><li><span class="matched_ds">Congenital nystagmus</span><ul><li><span class="TLline"><a href="/medgen/1632792" ref="tree=MeSH" title="MedGen record for Congenital horizontal nystagmus">Congenital horizontal nystagmus</a></span></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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_722059"><div><strong>Hyperparathyroidism, transient neonatal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>722059</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.">C1300287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Transient neonatal hyperparathyroidism (HRPTTN) is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age (Suzuki et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/722059">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331375"><div><strong>Aplasia cutis-myopia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331375</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.">C1832826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331375">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333352"><div><strong>Nystagmus 1, congenital, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333352</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:">C1839580</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FRMD7-related infantile nystagmus (FIN) is characterized by either the onset of horizontal, conjugate, gaze-dependent nystagmus in the first six months of life or periodic alternating nystagmus (with cyclical changes of nystagmus direction) of infantile onset. Binocular vision and color vision are normal and visual acuity is typically better than 6/12. An abnormal head posture is seen in approximately 15% of affected individuals. The eyes are structurally normal and electrophysiologic studies (e.g., visual evoked potential, electroretinogram) are normal. Affected females report slightly better visual acuity than affected males; however, no differences between males and females in the amplitude, frequency, and waveform of nystagmus are observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333352">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401072"><div><strong>Karsch-Neugebauer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401072</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.">C1866740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401072">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393758"><div><strong>Oculoauricular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393758</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.">C2677500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393758">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462921"><div><strong>Nystagmus, congenital, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462921</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.">C3151571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital nystagmus-8 (NYS8) is characterized by the presence of bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal (Huang et al., 2022). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462921">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811934"><div><strong>Foveal hypoplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811934</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.">C3805604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). Genetic Heterogeneity of Foveal Hypoplasia Foveal hypoplasia-2 (FVH2; 609218) is caused by mutation in the SLC38A8 gene (615585) on chromosome 16q23. Foveal hypoplasia-3 (FVH3; 620958) is caused by mutation in the AHR gene (600253) on chromosome 7p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811934">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854708"><div><strong>Hermansky-Pudlak syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854708</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.">C3888001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854708">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862780"><div><strong>Intellectual disability, autosomal recessive 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862780</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.">C4014343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). Novarino et al. (2014) labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862780">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648387"><div><strong>Pontocerebellar hypoplasia, type 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648387</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.">C4748058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648387">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794216"><div><strong>Neurodevelopmental disorder with impaired language and ataxia and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794216</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.">C5562006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794216">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854940"><div><strong>Intellectual developmental disorder, x-linked, syndromic 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854940</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.">C5935567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia cutis-myopia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811934" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foveal hypoplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_722059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism, transient neonatal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, x-linked, syndromic 37</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Karsch-Neugebauer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794216" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired language and ataxia and with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus 1, congenital, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus, congenital, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculoauricular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, type 1D</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/26978880">ANOMALOUS HEAD POSTURES IN STRABISMUS AND NYSTAGMUS DIAGNOSIS AND MANAGEMENT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teodorescu L</span><br />
|
||
<span class="medgenPMjournal">Rom J Ophthalmol</span>
|
||
2015 Jul-Sep;59(3):137-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26978880" target="_blank">26978880</a><a href="/pmc/articles/PMC5712957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7260026">Spasmus nutans or congenital nystagmus? Classification according to objective criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gresty MA,
|
||
Ell JJ</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1981 Jul;65(7):510-1.
|
||
doi: 10.1136/bjo.65.7.510-a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7260026" target="_blank">7260026</a><a href="/pmc/articles/PMC1039561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7356927">A new treatment for congenital nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abadi RV,
|
||
Carden D,
|
||
Simpson J</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1980 Jan;64(1):2-6.
|
||
doi: 10.1136/bjo.64.1.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7356927" target="_blank">7356927</a><a href="/pmc/articles/PMC1039338" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20nystagmus%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 (18)</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/35063063">PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Z,
|
||
Zheng Y,
|
||
Yang Y,
|
||
Huang Y,
|
||
Zhao S,
|
||
Zhao H,
|
||
Yu C,
|
||
Dong X,
|
||
Zhang Y,
|
||
Wang L,
|
||
Zhao Z,
|
||
Wang S,
|
||
Yang Y,
|
||
Ming Y,
|
||
Su J,
|
||
Qiu G,
|
||
Wu Z,
|
||
Zhang TJ,
|
||
Wu N</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2022 Feb 3;109(2):270-281.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1016/j.ajhg.2021.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35063063" target="_blank">35063063</a><a href="/pmc/articles/PMC8874150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34280564">Clinical phenocopies of albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dumitrescu AV,
|
||
Pfeifer WL,
|
||
Drack AV</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2021 Aug;25(4):220.e1-220.e8.
|
||
Epub 2021 Jul 17
|
||
doi: 10.1016/j.jaapos.2021.03.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34280564" target="_blank">34280564</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33534376">High- and Low-contrast Letter Acuity during Image Motion in Normal Observers and Observers with Infantile Nystagmus Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bedell HE,
|
||
Song S</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2021 Feb 1;98(2):150-158.
|
||
doi: 10.1097/OPX.0000000000001643.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33534376" target="_blank">33534376</a><a href="/pmc/articles/PMC7897239" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29664982">Variable Clinical Profile of Fovea Plana in Normal Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villegas VM,
|
||
Schwartz SG,
|
||
Hamet TD,
|
||
McKeown CA,
|
||
Capó H,
|
||
Flynn HW Jr</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2018 Apr 1;49(4):251-257.
|
||
doi: 10.3928/23258160-20180329-07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29664982" target="_blank">29664982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17980020">Oculocutaneous albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grønskov K,
|
||
Ek J,
|
||
Brondum-Nielsen K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Nov 2;2:43.
|
||
doi: 10.1186/1750-1172-2-43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17980020" target="_blank">17980020</a><a href="/pmc/articles/PMC2211462" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20nystagmus%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 (215)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33620408">Nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kates MM,
|
||
Beal CJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2021 Feb 23;325(8):798.
|
||
doi: 10.1001/jama.2020.3911.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33620408" target="_blank">33620408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30322349">Dealing with Nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ospina LH</span><br />
|
||
<span class="medgenPMjournal">J Binocul Vis Ocul Motil</span>
|
||
2018 Oct-Dec;68(4):99-109.
|
||
Epub 2018 Oct 15
|
||
doi: 10.1080/2576117X.2018.1493311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30322349" target="_blank">30322349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29773313">Bilateral macular coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lezrek O,
|
||
Zerkaoui N,
|
||
Elorch H,
|
||
El Kaddoumi M,
|
||
Benchekroun Belabess S,
|
||
Cherkoui O,
|
||
Lezrek M</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2018 May;41(5):472-474.
|
||
doi: 10.1016/j.jfo.2017.09.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29773313" target="_blank">29773313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17980020">Oculocutaneous albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grønskov K,
|
||
Ek J,
|
||
Brondum-Nielsen K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Nov 2;2:43.
|
||
doi: 10.1186/1750-1172-2-43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17980020" target="_blank">17980020</a><a href="/pmc/articles/PMC2211462" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11983762">Mechanisms underlying nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abadi RV</span><br />
|
||
<span class="medgenPMjournal">J R Soc Med</span>
|
||
2002 May;95(5):231-4.
|
||
doi: 10.1177/014107680209500504.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11983762" target="_blank">11983762</a><a href="/pmc/articles/PMC1279674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20nystagmus%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 (326)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37974371">Effects of Topical Brinzolamide on Infantile Nystagmus Syndrome Waveforms: Eyedrops for Nystagmus: Erratum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2023 Dec 1;43(4):e363.
|
||
doi: 10.1097/WNO.0000000000001992.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37974371" target="_blank">37974371</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16769853">Pharmacologic treatment of congenital nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarvananthan N,
|
||
Proudlock FA,
|
||
Choudhuri I,
|
||
Dua H,
|
||
Gottlob I</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
2006 Jun;124(6):916-8.
|
||
doi: 10.1001/archopht.124.6.916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16769853" target="_blank">16769853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11840355">Recognizing periodic alternating nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shallo-Hoffmann J,
|
||
Riordan-Eva P</span><br />
|
||
<span class="medgenPMjournal">Strabismus</span>
|
||
2001 Dec;9(4):203-15.
|
||
doi: 10.1076/stra.9.4.203.692.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11840355" target="_blank">11840355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10685280">Association of maternal sertraline (Zoloft) therapy and transient neonatal nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oca MJ,
|
||
Donn SM</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
1999 Sep;19(6 Pt 1):460-1.
|
||
doi: 10.1038/sj.jp.7200229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10685280" target="_blank">10685280</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8531035">The treatment of congenital nystagmus with Botox.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carruthers J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1995 Sep-Oct;32(5):306-8.
|
||
doi: 10.3928/0191-3913-19950901-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8531035" target="_blank">8531035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20nystagmus%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 (66)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37749571">Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zi F,
|
||
Li Z,
|
||
Cheng W,
|
||
Huang X,
|
||
Sheng X,
|
||
Rong W</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Sep 25;16(1):223.
|
||
doi: 10.1186/s12920-023-01665-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37749571" target="_blank">37749571</a><a href="/pmc/articles/PMC10521526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31953059">Comparison of Techniques for Correction of Chin-down Vertical Abnormal Head Position Associated with Infantile Nystagmus Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Law JJ,
|
||
Zheng Y,
|
||
Holt DG,
|
||
Morrison DG,
|
||
Donahue SP</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2020 May;213:57-61.
|
||
Epub 2020 Jan 15
|
||
doi: 10.1016/j.ajo.2020.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31953059" target="_blank">31953059</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30616528">A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
|
||
Wei Y,
|
||
Tian L,
|
||
Kang X</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2019 Jan 7;20(1):5.
|
||
doi: 10.1186/s12881-018-0720-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30616528" target="_blank">30616528</a><a href="/pmc/articles/PMC6323710" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25266830">Incidence of fovea plana in normal children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noval S,
|
||
Freedman SF,
|
||
Asrani S,
|
||
El-Dairi MA</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2014 Oct;18(5):471-5.
|
||
Epub 2014 Sep 27
|
||
doi: 10.1016/j.jaapos.2014.07.157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25266830" target="_blank">25266830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17221217">VEP asymmetry with ophthalmological and MRI findings in two achiasmatic children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brecelj J,
|
||
Stirn-Kranjc B,
|
||
Pecaric-Meglic N,
|
||
Skrbec M</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2007 Mar;114(2):53-65.
|
||
Epub 2007 Jan 13
|
||
doi: 10.1007/s10633-006-9037-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17221217" target="_blank">17221217</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20nystagmus%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 (116)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32440791">Numerical modeling and verification by nystagmus slow-phase velocity of the function of semicircular canals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu X,
|
||
Yu S,
|
||
Liu W,
|
||
Shen S</span><br />
|
||
<span class="medgenPMjournal">Biomech Model Mechanobiol</span>
|
||
2020 Dec;19(6):2343-2356.
|
||
Epub 2020 May 21
|
||
doi: 10.1007/s10237-020-01343-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32440791" target="_blank">32440791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25887921">Congenital Idiopathic Nystagmus: An Observational Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh D,
|
||
Rothner AD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2015 Aug;53(2):177.
|
||
Epub 2015 Feb 27
|
||
doi: 10.1016/j.pediatrneurol.2015.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25887921" target="_blank">25887921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23925060">Assessing abnormal head posture: a new paradigm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Halachmi-Eyal O,
|
||
Kowal L</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2013 Sep;24(5):432-7.
|
||
doi: 10.1097/ICU.0b013e3283644f17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23925060" target="_blank">23925060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22595744">Spatial-bisection acuity in infantile nystagmus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ukwade MT,
|
||
Bedell HE</span><br />
|
||
<span class="medgenPMjournal">Vision Res</span>
|
||
2012 Jul 1;64:1-6.
|
||
Epub 2012 May 14
|
||
doi: 10.1016/j.visres.2012.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22595744" target="_blank">22595744</a><a href="/pmc/articles/PMC3396734" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17998518">"Sensory" and "motor" nystagmus: erroneous and misleading terminology based on misinterpretation of David Cogan's observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dell'Osso LF,
|
||
Hertle RW,
|
||
Daroff RB</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
2007 Nov;125(11):1559-61.
|
||
doi: 10.1001/archopht.125.11.1559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17998518" target="_blank">17998518</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20nystagmus%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 (206)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38164583">Measurement of visual function in infantile nystagmus: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almagren B;
|
||
Nystagmus UK Eye Research Group (NUKE),
|
||
Dunn MJ</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2024 Jun 20;108(7):1038-1043.
|
||
doi: 10.1136/bjo-2023-324254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38164583" target="_blank">38164583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22824242">A systematic review on 'Foveal Crowding' in visually impaired children and perceptual learning as a method to reduce Crowding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huurneman B,
|
||
Boonstra FN,
|
||
Cox RF,
|
||
Cillessen AH,
|
||
van Rens G</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2012 Jul 23;12:27.
|
||
doi: 10.1186/1471-2415-12-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22824242" target="_blank">22824242</a><a href="/pmc/articles/PMC3416571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20nystagmus%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
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<div class="supplemental col three_col last">
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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=C0700501%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20nystagmus%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Congenital%20nystagmus%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for FRMD7-Related Infantile Nystagmus (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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