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<!--
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UID=1641795
|
||
ConceptID=C4551507
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Buphthalmos</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641795</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.">C4551507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>BUPHTHALMOS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Buphthalmos (413728006); Buphthalmia (413728006)</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:0000557">HP:0000557</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/231300" target="_blank">231300</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_content ln">Diffusely large eye (with megalocornea) associated with glaucoma. [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 Ocolor" title="OMIM"><a ref="ncbi_uid=1641795" target="_blank" href="/omim/231300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Buphthalmos</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/867562" ref="tree=MeSH" title="MedGen record for Abnormality of globe size">Abnormality of globe size</a></span><ul><li><span class="TLline"><a href="/medgen/344595" ref="tree=MeSH" title="MedGen record for Abnormally large globe">Abnormally large globe</a></span><ul><li><span class="matched_ds">Buphthalmos</span></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">
|
||
<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">
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||
<div class="divPopper rprt" id="rdis_21361"><div><strong>Sturge-Weber syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21361</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.">C0038505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sturge-Weber syndrome (SWS) is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21361">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_64221"><div><strong>Saethre-Chotzen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64221</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.">C0175699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/64221">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75615"><div><strong>Atrophia bulborum hereditaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75615</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.">C0266526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Norrie disease (ND) is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992). Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (see Duke, 1958).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383652"><div><strong>Frank-Ter Haar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383652</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.">C1855305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The primary characteristics of the Frank-ter Haar syndrome (FTHS) are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383652">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383912"><div><strong>Glaucoma 3A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383912</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.">C1856439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347541"><div><strong>Neonatal diabetes mellitus with congenital hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347541</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.">C1857775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347541">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370100"><div><strong>Persistent hyperplastic primary vitreous, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370100</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.">C1969783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012). PHPV shares phenotypic overlap with Norrie disease (310600). Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous A dominant form of PHPV has been described (PHPVAD; 611308).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370100">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461761"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461761</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.">C3150411</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), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005). 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/461761">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462869"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462869</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.">C3151519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462967"><div><strong>Anterior segment dysgenesis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462967</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.">C3151617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</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). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462967">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761238"><div><strong>Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761238</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.">C3538951</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/761238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902513"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902513</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.">C4225291</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 an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). 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/902513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894574"><div><strong>Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894574</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.">C4225424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894574">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924974"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924974</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.">C4284790</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), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A) Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647704"><div><strong>Congenital disorder of glycosylation with defective fucosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647704</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.">C4693905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystem disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018). Genetic Heterogeneity of Congenital Disorders of Glycosylation with Defective Fucosylation See also CDGF2 (618323), caused by mutation in the FCSK gene (608675) on chromosome 16q22. For an overview of congenital disorders of glycosylation (CDG), see CDG1A (212065) and CDG2A (212066).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1682553"><div><strong>Khan-Khan-Katsanis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682553</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.">C5193110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1682553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1680057"><div><strong>Cerebellar, ocular, craniofacial, and genital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680057</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.">C5193118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed (Rad et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1680057">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior segment dysgenesis 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophia bulborum hereditaria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1680057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar, ocular, craniofacial, and genital syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation with defective fucosylation</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frank-Ter Haar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glaucoma 3A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Khan-Khan-Katsanis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924974" 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 A1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461761" 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 A2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462869" 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 A3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902513" 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 A9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal diabetes mellitus with congenital hypothyroidism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent hyperplastic primary vitreous, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_64221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saethre-Chotzen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sturge-Weber syndrome</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/35199734">Primary Congenital Glaucoma among the Children Under 3 Years of Age in the Outpatient Department in a Tertiary Care Hospital: A Descriptive Cross-sectional Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panta Sitoula R,
|
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Gurung J,
|
||
Anwar A</span><br />
|
||
<span class="medgenPMjournal">JNMA J Nepal Med Assoc</span>
|
||
2021 Sep 11;59(241):867-870.
|
||
doi: 10.31729/jnma.5889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35199734" target="_blank">35199734</a><a href="/pmc/articles/PMC9107907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20579739">Surgical results in the management of advanced primary congenital glaucoma in a rural pediatric population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Zion I,
|
||
Tomkins O,
|
||
Moore DB,
|
||
Helveston EM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2011 Feb;118(2):231-5.e1.
|
||
Epub 2010 Jun 25
|
||
doi: 10.1016/j.ophtha.2010.02.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20579739" target="_blank">20579739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7938763">Imaging and differential diagnosis of the large eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith M,
|
||
Castillo M</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
1994 Jul;14(4):721-8.
|
||
doi: 10.1148/radiographics.14.4.7938763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7938763" target="_blank">7938763</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22buphthalmos%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 (6)</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/27929720">Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rao A,
|
||
Padhy D,
|
||
Sarangi S,
|
||
Das G</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2018;33(3):300-307.
|
||
Epub 2016 Dec 8
|
||
doi: 10.1080/08820538.2016.1208767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27929720" target="_blank">27929720</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26966836">Trabeculectomy in eyes with unsuspected retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chawla B,
|
||
Hada M,
|
||
Seth R,
|
||
Sen S,
|
||
Gupta V,
|
||
Kashyap S,
|
||
Narasimhaiah PC</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2016 Dec;37(4):437-440.
|
||
Epub 2016 Mar 11
|
||
doi: 10.3109/13816810.2015.1126610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26966836" target="_blank">26966836</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26023180">Retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortiz MV,
|
||
Dunkel IJ</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2016 Feb;31(2):227-36.
|
||
Epub 2015 May 28
|
||
doi: 10.1177/0883073815587943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26023180" target="_blank">26023180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11071032">Ocular findings in Sturge-Weber syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Celebi S,
|
||
Alagöz G,
|
||
Aykan U</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2000 Jul-Sep;10(3):239-43.
|
||
doi: 10.1177/112067210001000308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11071032" target="_blank">11071032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2817058">Normal exophthalmometric values in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nucci P,
|
||
Brancato R,
|
||
Bandello F,
|
||
Alfarano R,
|
||
Bianchi S</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1989 Nov 15;108(5):582-4.
|
||
doi: 10.1016/0002-9394(89)90438-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2817058" target="_blank">2817058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Buphthalmos%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 (65)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35144002">Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobson A,
|
||
Bohnsack BL</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2022 Jun;26(3):148-150.
|
||
Epub 2022 Feb 8
|
||
doi: 10.1016/j.jaapos.2022.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35144002" target="_blank">35144002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31135584">Neglected Congenital Glaucoma With Lens Coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhingra D,
|
||
Tekchandani U,
|
||
Pandav SS,
|
||
Kaushik S</span><br />
|
||
<span class="medgenPMjournal">J Glaucoma</span>
|
||
2019 Aug;28(8):e140-e142.
|
||
doi: 10.1097/IJG.0000000000001288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31135584" target="_blank">31135584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26277063">Congenital uveal melanoma?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh AD,
|
||
Schoenfield LA,
|
||
Bastian BC,
|
||
Aziz HA,
|
||
Marino MJ,
|
||
Biscotti CV</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2016 Jan-Feb;61(1):59-64.
|
||
Epub 2015 Aug 12
|
||
doi: 10.1016/j.survophthal.2015.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26277063" target="_blank">26277063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26023180">Retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortiz MV,
|
||
Dunkel IJ</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2016 Feb;31(2):227-36.
|
||
Epub 2015 May 28
|
||
doi: 10.1177/0883073815587943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26023180" target="_blank">26023180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20529079">Buphthalmos: early glaucoma history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mark HH</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2011 Sep;89(6):591-4.
|
||
Epub 2010 Jun 1
|
||
doi: 10.1111/j.1755-3768.2009.01783.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20529079" target="_blank">20529079</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Buphthalmos%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 (92)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30145194">Proptosis masquerading as buphthalmos following glaucoma drainage device surgery in a child with congenital glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alonzo B,
|
||
Edmunds B,
|
||
Loh AR</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2018 Dec;22(6):475-477.e1.
|
||
Epub 2018 Aug 23
|
||
doi: 10.1016/j.jaapos.2018.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30145194" target="_blank">30145194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26966836">Trabeculectomy in eyes with unsuspected retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chawla B,
|
||
Hada M,
|
||
Seth R,
|
||
Sen S,
|
||
Gupta V,
|
||
Kashyap S,
|
||
Narasimhaiah PC</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2016 Dec;37(4):437-440.
|
||
Epub 2016 Mar 11
|
||
doi: 10.3109/13816810.2015.1126610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26966836" target="_blank">26966836</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26040832">Unilateral congenital buphthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasileiadis GT,
|
||
Frangouli O</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2015 Jun 3;2015
|
||
doi: 10.1136/bcr-2015-210979.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26040832" target="_blank">26040832</a><a href="/pmc/articles/PMC4460551" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2817058">Normal exophthalmometric values in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nucci P,
|
||
Brancato R,
|
||
Bandello F,
|
||
Alfarano R,
|
||
Bianchi S</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1989 Nov 15;108(5):582-4.
|
||
doi: 10.1016/0002-9394(89)90438-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2817058" target="_blank">2817058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5572270">Adrenogenital syndrome and buphthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clements DB</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1971 Apr;55(4):275-8.
|
||
doi: 10.1136/bjo.55.4.275.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5572270" target="_blank">5572270</a><a href="/pmc/articles/PMC1208283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Buphthalmos%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 (26)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30318913">Use of ab interno Kahook Dual Blade trabeculectomy for treatment of primary congenital glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey MM,
|
||
Schmitz JW</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2020 Jan;30(1):NP16-NP20.
|
||
Epub 2018 Oct 14
|
||
doi: 10.1177/1120672118805873.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30318913" target="_blank">30318913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26023180">Retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortiz MV,
|
||
Dunkel IJ</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2016 Feb;31(2):227-36.
|
||
Epub 2015 May 28
|
||
doi: 10.1177/0883073815587943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26023180" target="_blank">26023180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23187168">Large diameter descemet membrane endothelial keratoplasty in buphthalmic eyes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quilendrino R,
|
||
Yeh RY,
|
||
Dapena I,
|
||
Ham L,
|
||
Dirisamer M,
|
||
van Niekerk J,
|
||
Melles GR</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2013 May;32(5):e74-8.
|
||
doi: 10.1097/ICO.0b013e3182765128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23187168" target="_blank">23187168</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22153412">Uveal melanoma in a 19-month-old child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grabowska A,
|
||
Abelarias J,
|
||
Peralta J,
|
||
Asencio M,
|
||
García-Cabezas MÁ,
|
||
Escabias-Del Pozo C,
|
||
Nevado J,
|
||
Vallespin E,
|
||
Solera J,
|
||
Pilar PM,
|
||
Sastre-Urgellés A</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2011 Dec;15(6):606-8.
|
||
doi: 10.1016/j.jaapos.2011.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22153412" target="_blank">22153412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17629528">Steroid-induced glaucoma in an infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hutcheson KA</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2007 Oct;11(5):522-3.
|
||
Epub 2007 Jul 12
|
||
doi: 10.1016/j.jaapos.2007.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17629528" target="_blank">17629528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Buphthalmos%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 (46)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35253344">Correlation of clinical and radiological predictors of retinoblastoma with high-risk histopathological features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yaqoob N,
|
||
Zia N,
|
||
Hamid A,
|
||
Kaleem B,
|
||
Jamal S,
|
||
Amin S,
|
||
Qaddoumi I,
|
||
Jamal S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2022 May;69(5):e29625.
|
||
Epub 2022 Mar 6
|
||
doi: 10.1002/pbc.29625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35253344" target="_blank">35253344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35199734">Primary Congenital Glaucoma among the Children Under 3 Years of Age in the Outpatient Department in a Tertiary Care Hospital: A Descriptive Cross-sectional Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panta Sitoula R,
|
||
Gurung J,
|
||
Anwar A</span><br />
|
||
<span class="medgenPMjournal">JNMA J Nepal Med Assoc</span>
|
||
2021 Sep 11;59(241):867-870.
|
||
doi: 10.31729/jnma.5889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35199734" target="_blank">35199734</a><a href="/pmc/articles/PMC9107907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22153412">Uveal melanoma in a 19-month-old child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grabowska A,
|
||
Abelarias J,
|
||
Peralta J,
|
||
Asencio M,
|
||
García-Cabezas MÁ,
|
||
Escabias-Del Pozo C,
|
||
Nevado J,
|
||
Vallespin E,
|
||
Solera J,
|
||
Pilar PM,
|
||
Sastre-Urgellés A</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2011 Dec;15(6):606-8.
|
||
doi: 10.1016/j.jaapos.2011.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22153412" target="_blank">22153412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11071032">Ocular findings in Sturge-Weber syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Celebi S,
|
||
Alagöz G,
|
||
Aykan U</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2000 Jul-Sep;10(3):239-43.
|
||
doi: 10.1177/112067210001000308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11071032" target="_blank">11071032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2817058">Normal exophthalmometric values in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nucci P,
|
||
Brancato R,
|
||
Bandello F,
|
||
Alfarano R,
|
||
Bianchi S</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1989 Nov 15;108(5):582-4.
|
||
doi: 10.1016/0002-9394(89)90438-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2817058" target="_blank">2817058</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Buphthalmos%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 (30)</a></div></div>
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