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<!--
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UID=390938
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ConceptID=C2676026
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Optic nerve dysplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390938</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.">C2676026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001093">HP:0001093</a></td></tr>
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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>
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<div class="portlet_content ln">The presence of developmental dysplasia of the optic nerve. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_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=C2676026[DISCUI]&test_type=Clinical" ref="ncbi_uid=390938">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Optic nerve dysplasia</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/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/472883" ref="tree=MeSH" title="MedGen record for Abnormal optic nerve morphology">Abnormal optic nerve morphology</a></span><ul><li><span class="matched_ds">Optic nerve dysplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_266149"><div><strong>Cardio-facio-cutaneous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266149</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.">C1275081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343374"><div><strong>Absence deformity of leg-cataract syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343374</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.">C1855523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343374">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763187"><div><strong>Peroxisome biogenesis disorder 2A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763187</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.">C3550273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763187">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766854"><div><strong>Peroxisome biogenesis disorder 5A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766854</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.">C3553940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766854">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815372"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815372</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.">C3809042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815372">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924883"><div><strong>Spastic paraplegia, intellectual disability, nystagmus, and obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924883</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.">C4284592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924883">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934589"><div><strong>Anterior segment dysgenesis 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934589</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.">C4310622</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934589">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absence deformity of leg-cataract syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior segment dysgenesis 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardio-facio-cutaneous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 2A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 5A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia, intellectual disability, nystagmus, and obesity</a></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/30025138">Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi JH,
|
||
Jung JH,
|
||
Oh EH,
|
||
Shin JH,
|
||
Kim HS,
|
||
Seo JH,
|
||
Choi SY,
|
||
Kim MJ,
|
||
Choi HY,
|
||
Lee C,
|
||
Choi KD</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2018 Jun 1;59(7):3181-3188.
|
||
doi: 10.1167/iovs.18-24207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30025138" target="_blank">30025138</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22optic%20nerve%20dysplasia%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 (1)</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/36563895">Abnormalities of the contralateral eye in unilateral congenital anophthalmic or blind microphthalmic patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma L,
|
||
Li Y,
|
||
Zhang H,
|
||
Li L,
|
||
Deng G,
|
||
Xu J,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2023 Feb;27(1):34.e1-34.e4.
|
||
Epub 2022 Dec 21
|
||
doi: 10.1016/j.jaapos.2022.11.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36563895" target="_blank">36563895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30025138">Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi JH,
|
||
Jung JH,
|
||
Oh EH,
|
||
Shin JH,
|
||
Kim HS,
|
||
Seo JH,
|
||
Choi SY,
|
||
Kim MJ,
|
||
Choi HY,
|
||
Lee C,
|
||
Choi KD</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2018 Jun 1;59(7):3181-3188.
|
||
doi: 10.1167/iovs.18-24207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30025138" target="_blank">30025138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29753093">Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garne E,
|
||
Rissmann A,
|
||
Addor MC,
|
||
Barisic I,
|
||
Bergman J,
|
||
Braz P,
|
||
Cavero-Carbonell C,
|
||
Draper ES,
|
||
Gatt M,
|
||
Haeusler M,
|
||
Klungsoyr K,
|
||
Kurinczuk JJ,
|
||
Lelong N,
|
||
Luyt K,
|
||
Lynch C,
|
||
O'Mahony MT,
|
||
Mokoroa O,
|
||
Nelen V,
|
||
Neville AJ,
|
||
Pierini A,
|
||
Randrianaivo H,
|
||
Rankin J,
|
||
Rouget F,
|
||
Schaub B,
|
||
Tucker D,
|
||
Verellen-Dumoulin C,
|
||
Wellesley D,
|
||
Wiesel A,
|
||
Zymak-Zakutnia N,
|
||
Lanzoni M,
|
||
Morris JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2018 Sep;61(9):483-488.
|
||
Epub 2018 May 10
|
||
doi: 10.1016/j.ejmg.2018.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29753093" target="_blank">29753093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23764677">Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Afifi HH,
|
||
Abdel Azeem AA,
|
||
El-Bassyouni HT,
|
||
Gheith ME,
|
||
Rizk A,
|
||
Bateman JB</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2013 Aug;131(8):1057-66.
|
||
doi: 10.1001/jamaophthalmol.2013.644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23764677" target="_blank">23764677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16814183">Bilateral Duane syndrome and bilateral aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AO,
|
||
Aldahmesh M</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2006 Jun;10(3):273-4.
|
||
doi: 10.1016/j.jaapos.2006.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16814183" target="_blank">16814183</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20nerve%20dysplasia%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29753093">Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garne E,
|
||
Rissmann A,
|
||
Addor MC,
|
||
Barisic I,
|
||
Bergman J,
|
||
Braz P,
|
||
Cavero-Carbonell C,
|
||
Draper ES,
|
||
Gatt M,
|
||
Haeusler M,
|
||
Klungsoyr K,
|
||
Kurinczuk JJ,
|
||
Lelong N,
|
||
Luyt K,
|
||
Lynch C,
|
||
O'Mahony MT,
|
||
Mokoroa O,
|
||
Nelen V,
|
||
Neville AJ,
|
||
Pierini A,
|
||
Randrianaivo H,
|
||
Rankin J,
|
||
Rouget F,
|
||
Schaub B,
|
||
Tucker D,
|
||
Verellen-Dumoulin C,
|
||
Wellesley D,
|
||
Wiesel A,
|
||
Zymak-Zakutnia N,
|
||
Lanzoni M,
|
||
Morris JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2018 Sep;61(9):483-488.
|
||
Epub 2018 May 10
|
||
doi: 10.1016/j.ejmg.2018.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29753093" target="_blank">29753093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24802674">Morning glory disc anomaly with Chiari type I malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arlow T,
|
||
Arepalli S,
|
||
Flanders AE,
|
||
Shields CL</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2014 Apr 30;51 Online:e22-4.
|
||
doi: 10.3928/01913913-20140423-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24802674" target="_blank">24802674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21654726">Renal coloboma syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schimmenti LA</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Dec;19(12):1207-12.
|
||
Epub 2011 Jun 8
|
||
doi: 10.1038/ejhg.2011.102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21654726" target="_blank">21654726</a><a href="/pmc/articles/PMC3230355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14566649">Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schimmenti LA,
|
||
Manligas GS,
|
||
Sieving PA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2003 Dec;24(4):191-202.
|
||
doi: 10.1076/opge.24.4.191.17229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14566649" target="_blank">14566649</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1204235">Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas GH,
|
||
Haslam RH,
|
||
Batshaw ML,
|
||
Capute AJ,
|
||
Neidengard L,
|
||
Ransom JL</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1975 Nov;8(5):376-82.
|
||
doi: 10.1111/j.1399-0004.1975.tb01517.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1204235" target="_blank">1204235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20nerve%20dysplasia%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 (19)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11262699">Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schulz E,
|
||
Jung H</span><br />
|
||
<span class="medgenPMjournal">Strabismus</span>
|
||
2001 Mar;9(1):33-5.
|
||
doi: 10.1076/stra.9.1.33.707.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11262699" target="_blank">11262699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1090290">Optic nerve anomalies in basal encephalocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldhammer Y,
|
||
Smith JL</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1975 Feb;93(2):115-8.
|
||
doi: 10.1001/archopht.1975.01010020121004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1090290" target="_blank">1090290</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20nerve%20dysplasia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21072067">BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent A,
|
||
McAlister C,
|
||
Vandenhoven C,
|
||
Héon E</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2011 Jan;25(1):113-8.
|
||
Epub 2010 Nov 12
|
||
doi: 10.1038/eye.2010.165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21072067" target="_blank">21072067</a><a href="/pmc/articles/PMC3144636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16814183">Bilateral Duane syndrome and bilateral aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AO,
|
||
Aldahmesh M</span><br />
|
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<span class="medgenPMjournal">J AAPOS</span>
|
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2006 Jun;10(3):273-4.
|
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doi: 10.1016/j.jaapos.2006.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16814183" target="_blank">16814183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10506908">Morning Glory syndrome. MR imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auber AE,
|
||
O'Hara M</span><br />
|
||
<span class="medgenPMjournal">Clin Imaging</span>
|
||
1999 May-Jun;23(3):152-8.
|
||
doi: 10.1016/s0899-7071(99)00118-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10506908" target="_blank">10506908</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8025062">Aetiology of severe visual impairment and blindness in microphthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elder MJ</span><br />
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<span class="medgenPMjournal">Br J Ophthalmol</span>
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||
1994 May;78(5):332-4.
|
||
doi: 10.1136/bjo.78.5.332.
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||
<span class="bold">PMID: </span><a href="/pubmed/8025062" target="_blank">8025062</a><a href="/pmc/articles/PMC504780" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1204235">Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas GH,
|
||
Haslam RH,
|
||
Batshaw ML,
|
||
Capute AJ,
|
||
Neidengard L,
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||
Ransom JL</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
|
||
1975 Nov;8(5):376-82.
|
||
doi: 10.1111/j.1399-0004.1975.tb01517.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1204235" target="_blank">1204235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20nerve%20dysplasia%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36835576">PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Negrisolo S,
|
||
Benetti E</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Feb 19;24(4)
|
||
doi: 10.3390/ijms24044165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36835576" target="_blank">36835576</a><a href="/pmc/articles/PMC9962628" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30025138">Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choi JH,
|
||
Jung JH,
|
||
Oh EH,
|
||
Shin JH,
|
||
Kim HS,
|
||
Seo JH,
|
||
Choi SY,
|
||
Kim MJ,
|
||
Choi HY,
|
||
Lee C,
|
||
Choi KD</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2018 Jun 1;59(7):3181-3188.
|
||
doi: 10.1167/iovs.18-24207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30025138" target="_blank">30025138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21670345">Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gabriel LA,
|
||
Sachdeva R,
|
||
Marcotty A,
|
||
Rockwood EJ,
|
||
Traboulsi EI</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
2011 Jun;129(6):781-4.
|
||
doi: 10.1001/archophthalmol.2011.113.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21670345" target="_blank">21670345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21072067">BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent A,
|
||
McAlister C,
|
||
Vandenhoven C,
|
||
Héon E</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2011 Jan;25(1):113-8.
|
||
Epub 2010 Nov 12
|
||
doi: 10.1038/eye.2010.165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21072067" target="_blank">21072067</a><a href="/pmc/articles/PMC3144636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20nerve%20dysplasia%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 (4)</a></div></div>
|
||
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|
||
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|
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|
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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=C2676026%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C2676026%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2676026%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Optic%20nerve%20dysplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22optic%20nerve%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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