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<!--
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UID=224879
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ConceptID=C1298695
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Optic disc hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224879</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.">C1298695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypoplasia of the optic disc; Hypoplastic optic disc; Hypoplastic optic discs</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypoplasia of optic disc (373650004); Optic disc hypoplasia (373650004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><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:0007766">HP:0007766</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">Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form 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 unavailable round" title="Clinical test">C</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 disc hypoplasia</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/870303" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the eye">Aplasia/Hypoplasia affecting the eye</a></span><ul><li><span class="TLline"><a href="/medgen/870302" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the fundus">Aplasia/Hypoplasia affecting the fundus</a></span><ul><li><span class="TLline"><a href="/medgen/870301" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the optic nerve">Aplasia/Hypoplasia of the optic nerve</a></span><ul><li><span class="matched_ds">Optic disc hypoplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_90926"><div><strong>Septo-optic dysplasia sequence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90926</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.">C0338503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90926">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_301647"><div><strong>Duane-radial ray syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301647</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.">C1623209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301647">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332113"><div><strong>CEDNIK syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332113</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.">C1836033</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK) refers to a unique constellation of clinical manifestations including global developmental delay with hypotonia, roving eye movements or nystagmus, poor motor skills, and impaired intellectual development with speech delay. More variable features include microcephaly, feeding difficulties, seizures, ocular anomalies, hearing loss, and nonspecific dysmorphic facial features. Palmoplantar keratoderma and ichthyosis or neuropathy develop in some patients. Brain magnetic resonance imaging (MRI) shows varying degrees of cerebral dysgenesis, including absence of the corpus callosum and cortical dysplasia, as well as hypomyelination, white matter loss, and white matter signal anomalies suggestive of a leukodystrophy. Some patients may show developmental regression; many die in childhood (Fuchs-Telem et al., 2011; Mah-Som et al., 2021). With more patients being reported, several authors (Diggle et al., 2017; Llaci et al., 2019; Mah-Som et al., 2021) have observed that the dermatologic features and peripheral neuropathy show reduced penetrance and are more variable manifestations of this disorder, as they are not observed in all patients with biallelic SNAP29 mutations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332113">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336901"><div><strong>Fanconi anemia complementation group B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336901</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.">C1845292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462318"><div><strong>Microphthalmia, isolated, with coloboma 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462318</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.">C3150968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462318">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639653"><div><strong>Combined oxidative phosphorylation deficiency 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639653</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.">C4693466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786150"><div><strong>Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786150</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.">C5543332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786150">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800957"><div><strong>Dworschak-Punetha neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800957</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.">C5677017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity. Some affected individuals may have only speech delay or behavioral manifestations. More variable additional features include optic disc hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, nonspecific dysmorphic facial features, and brain imaging abnormalities of the ventricles or corpus callosum. Of note, not all patients exhibit all features, and there is significant inter- and intrafamilial phenotypic variability (Dworschak et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800957">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1856733"><div><strong>Microphthalmia/coloboma 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856733</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.">C5935584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia/coloboma-11 (MCOPCB11) is characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Incomplete penetrance as well as intrafamilial and intraindividual phenotypic variability have been observed (Liu et al., 2016; Aubert-Mucca et al., 2021; Jiang et al., 2021; Holt et al., 2022). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1856733">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332113" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CEDNIK syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 35</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duane-radial ray syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dworschak-Punetha neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group B</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, isolated, with coloboma 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia/coloboma 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Septo-optic dysplasia sequence</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/38501705">Paediatric optic pit-associated macular detachment: A treatment strategy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiehelä S,
|
||
Loukovaara S</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2024 Jun;102(4):e659-e660.
|
||
Epub 2024 Mar 19
|
||
doi: 10.1111/aos.16673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38501705" target="_blank">38501705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32809892">Thoughts and Challenges for the Current Treatment of Optic Disc Pit Maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Theodossiadis G,
|
||
Theodossiadis P,
|
||
Chatziralli I</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2020 May 18;35(4):232-236.
|
||
Epub 2020 Aug 18
|
||
doi: 10.1080/08820538.2020.1809684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32809892" target="_blank">32809892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31441129">Optic disc pit maculopathy: a review of diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wan R,
|
||
Chang A</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Optom</span>
|
||
2020 Jul;103(4):425-429.
|
||
Epub 2019 Aug 22
|
||
doi: 10.1111/cxo.12957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31441129" target="_blank">31441129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(optic%20disc%20hypoplasia)%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 (26)</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/38227763">Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dentel A,
|
||
Madani MB,
|
||
Robert MP,
|
||
Valleix S,
|
||
Brémond-Gignac D,
|
||
Daruich A</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2024 Dec 1;44(4):540-544.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1097/WNO.0000000000002083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38227763" target="_blank">38227763</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36972742">Peripheral Retinal Nonperfusion in Pediatric Patients with Optic Disc Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Cruz NFS,
|
||
Sengillo JD,
|
||
Fan J,
|
||
Negron CI,
|
||
Felder MB,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Aug;252:130-134.
|
||
Epub 2023 Mar 25
|
||
doi: 10.1016/j.ajo.2023.03.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36972742" target="_blank">36972742</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34039153">The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirzayev I,
|
||
Gündüz AK,
|
||
Biçer Ö,
|
||
Tarlan B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2021 May-Jun;58(3):161-167.
|
||
Epub 2021 May 1
|
||
doi: 10.3928/01913913-20210108-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34039153" target="_blank">34039153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27084085">Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Oreany AA,
|
||
Al Hadlaq A,
|
||
Schatz P</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2016 Oct;254(10):1951-1956.
|
||
Epub 2016 Apr 15
|
||
doi: 10.1007/s00417-016-3346-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27084085" target="_blank">27084085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1446772">Ocular manifestations of Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee NB,
|
||
Kelly L,
|
||
Sharland M</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
1992;6 ( Pt 3):328-34.
|
||
doi: 10.1038/eye.1992.66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1446772" target="_blank">1446772</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20hypoplasia%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38227763">Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dentel A,
|
||
Madani MB,
|
||
Robert MP,
|
||
Valleix S,
|
||
Brémond-Gignac D,
|
||
Daruich A</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2024 Dec 1;44(4):540-544.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1097/WNO.0000000000002083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38227763" target="_blank">38227763</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36972742">Peripheral Retinal Nonperfusion in Pediatric Patients with Optic Disc Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Cruz NFS,
|
||
Sengillo JD,
|
||
Fan J,
|
||
Negron CI,
|
||
Felder MB,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Aug;252:130-134.
|
||
Epub 2023 Mar 25
|
||
doi: 10.1016/j.ajo.2023.03.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36972742" target="_blank">36972742</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34039153">The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirzayev I,
|
||
Gündüz AK,
|
||
Biçer Ö,
|
||
Tarlan B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2021 May-Jun;58(3):161-167.
|
||
Epub 2021 May 1
|
||
doi: 10.3928/01913913-20210108-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34039153" target="_blank">34039153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33633439">Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Ouyang J,
|
||
Li S,
|
||
Xiao X,
|
||
Sun W,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2021;27:50-60.
|
||
Epub 2021 Jan 20
|
||
<span class="bold">PMID: </span><a href="/pubmed/33633439" target="_blank">33633439</a><a href="/pmc/articles/PMC7883931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27084085">Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Oreany AA,
|
||
Al Hadlaq A,
|
||
Schatz P</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2016 Oct;254(10):1951-1956.
|
||
Epub 2016 Apr 15
|
||
doi: 10.1007/s00417-016-3346-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27084085" target="_blank">27084085</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20hypoplasia%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27529609">OCT in a Myelinated Retinal Nerve Fiber Syndrome with Reduced Vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bass SJ,
|
||
Westcott J,
|
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Sherman J</span><br />
|
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<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2016 Oct;93(10):1285-91.
|
||
doi: 10.1097/OPX.0000000000000951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27529609" target="_blank">27529609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23150047">A long-term follow-up of peripapillary retinoschisis with optic disc hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshikawa T,
|
||
Nishimura T,
|
||
Minamino K,
|
||
Takahashi K</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2013 Aug;33(4):425-8.
|
||
Epub 2012 Nov 13
|
||
doi: 10.1007/s10792-012-9673-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23150047" target="_blank">23150047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18569821">Orbital heterotopic glial tissue presenting as exotropia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiratli H,
|
||
Sekeroğlu MA,
|
||
Tezel GG</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2008;27(3):165-8.
|
||
doi: 10.1080/01676830701523889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18569821" target="_blank">18569821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20hypoplasia%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36972742">Peripheral Retinal Nonperfusion in Pediatric Patients with Optic Disc Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Cruz NFS,
|
||
Sengillo JD,
|
||
Fan J,
|
||
Negron CI,
|
||
Felder MB,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Aug;252:130-134.
|
||
Epub 2023 Mar 25
|
||
doi: 10.1016/j.ajo.2023.03.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36972742" target="_blank">36972742</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34039153">The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirzayev I,
|
||
Gündüz AK,
|
||
Biçer Ö,
|
||
Tarlan B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2021 May-Jun;58(3):161-167.
|
||
Epub 2021 May 1
|
||
doi: 10.3928/01913913-20210108-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34039153" target="_blank">34039153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24911672">Systemic abnormalities in children with congenital optic disc excavations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beby F</span><br />
|
||
<span class="medgenPMjournal">Curr Eye Res</span>
|
||
2015 Apr;40(4):450-5.
|
||
Epub 2014 Jun 9
|
||
doi: 10.3109/02713683.2014.925931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24911672" target="_blank">24911672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17294389">Ocular manifestations in fetal alcohol syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ribeiro IM,
|
||
Vale PJ,
|
||
Tenedorio PA,
|
||
Rodrigues PA,
|
||
Bilhoto MA,
|
||
Pereira HC</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2007 Jan-Feb;17(1):104-9.
|
||
doi: 10.1177/112067210701700114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17294389" target="_blank">17294389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15184955">Ocular pathology in congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansour AM,
|
||
Bitar FF,
|
||
Traboulsi EI,
|
||
Kassak KM,
|
||
Obeid MY,
|
||
Megarbane A,
|
||
Salti HI</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2005 Jan;19(1):29-34.
|
||
doi: 10.1038/sj.eye.6701408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15184955" target="_blank">15184955</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20disc%20hypoplasia%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 (8)</a></div></div>
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