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<!--
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UID=340322
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ConceptID=C1849412
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Macular hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340322</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.">C1849412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001104">HP:0001104</a></td></tr>
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<div class="portlet_content ln">Underdevelopment of the macula lutea. [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">Macular hypoplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/870298" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the retina">Aplasia/Hypoplasia of the retina</a></span><ul><li><span class="TLline"><a href="/medgen/870300" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the macula">Aplasia/Hypoplasia of the macula</a></span><ul><li><span class="matched_ds">Macular 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 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_3347"><div><strong>Chédiak-Higashi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3347</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0007965</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, a mild bleeding tendency, and late adolescent- to adult-onset neurologic manifestations (e.g., learning difficulties, peripheral neuropathy, ataxia, and parkinsonism). While present in nearly all individuals with CHS, these clinical findings vary in severity. Of note, all individuals with CHS are at risk of developing neurologic manifestations and hemophagocytic lymphohistiocytosis (HLH). Individuals with severe childhood-onset presentations are considered to have "classic" CHS, whereas individuals with milder adolescent- to adult-onset presentations are considered to have "atypical" CHS. Because of the considerable overlap between classic CHS and atypical CHS, the disorder is best understood as a continuum of severe to milder phenotypes, with the universal feature being the pathognomonic giant granules within leukocytes observed on peripheral blood smear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3347">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162878"><div><strong>11q partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162878</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.">C0795841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162878">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373199"><div><strong>Pierson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373199</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.">C1836876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373199">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338324"><div><strong>Oculocutaneous albinism type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338324</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.">C1847836</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the hair and skin plus the characteristic ocular changes found in all other types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP). Individuals with OCA4 are usually recognized within the first year of life because of hypopigmentation of the hair and skin and the ocular features of nystagmus and strabismus. Vision is likely to be stable after early childhood. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Newborns with OCA4 usually have some pigment in their hair, with color ranging from silvery white to light yellow. Hair color may darken with time, but does not vary significantly from childhood to adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340962"><div><strong>Vici syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340962</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.">C1855772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347538"><div><strong>Cataract 21 multiple types</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347538</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.">C1857768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset. The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347538">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393758"><div><strong>Oculoauricular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393758</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2677500</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393758">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481743"><div><strong>LAMB2-related infantile-onset nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481743</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.">C3280113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nephrotic syndrome type 5 (NPHS5) is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by Hasselbacher et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481743">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767605"><div><strong>Hydrocephalus, nonsyndromic, autosomal recessive 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767605</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.">C3554691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hydrocephalus-2 (HYC2) is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767605">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854714"><div><strong>Hermansky-Pudlak syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854714</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.">C3888007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854714">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905986"><div><strong>MEND syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905986</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.">C4085243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Male EBP disorder with neurologic defects (MEND) is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905986">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1642123"><div><strong>Knobloch syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642123</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.">C4551775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011). Genetic Heterogeneity of Knobloch Syndrome KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642123">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643555"><div><strong>3p- syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643555</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.">C4706503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies, cleft palate, congenital heart defects (especially atrioventricular septal defects), preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features. Although intellectual deficits are almost invariably associated with cytogenetically visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence or only mild abnormalities have been described (summary by Shuib et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643555">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162878" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">11q partial monosomy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3p- syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347538" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract 21 multiple types</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chédiak-Higashi syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 6</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus, nonsyndromic, autosomal recessive 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knobloch syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LAMB2-related infantile-onset nephrotic syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905986" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MEND syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculoauricular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pierson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vici 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/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/38301969">Central serous chorioretinopathy: An evidence-based treatment guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feenstra HMA,
|
||
van Dijk EHC,
|
||
Cheung CMG,
|
||
Ohno-Matsui K,
|
||
Lai TYY,
|
||
Koizumi H,
|
||
Larsen M,
|
||
Querques G,
|
||
Downes SM,
|
||
Yzer S,
|
||
Breazzano MP,
|
||
Subhi Y,
|
||
Tadayoni R,
|
||
Priglinger SG,
|
||
Pauleikhoff LJB,
|
||
Lange CAK,
|
||
Loewenstein A,
|
||
Diederen RMH,
|
||
Schlingemann RO,
|
||
Hoyng CB,
|
||
Chhablani JK,
|
||
Holz FG,
|
||
Sivaprasad S,
|
||
Lotery AJ,
|
||
Yannuzzi LA,
|
||
Freund KB,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2024 Jul;101:101236.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.preteyeres.2024.101236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38301969" target="_blank">38301969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35741079">Current and Novel Therapeutic Approaches for Treatment of Diabetic Macular Edema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chauhan MZ,
|
||
Rather PA,
|
||
Samarah SM,
|
||
Elhusseiny AM,
|
||
Sallam AB</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Jun 17;11(12)
|
||
doi: 10.3390/cells11121950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35741079" target="_blank">35741079</a><a href="/pmc/articles/PMC9221813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(macular%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 (63)</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/37647922">A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fries FN,
|
||
Náray A,
|
||
Munteanu C,
|
||
Stachon T,
|
||
Lagali N,
|
||
Seitz B,
|
||
Szentmáry N,
|
||
Käsmann-Kellner B</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2024 Mar;241(3):275-282.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1055/a-2065-8405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37647922" target="_blank">37647922</a><a href="/pmc/articles/PMC10954372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32771327">Referral outcomes from a vision screening program for school-aged children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silverstein M,
|
||
Scharf K,
|
||
Mayro EL,
|
||
Hark LA,
|
||
Snitzer M,
|
||
Anhalt J,
|
||
Pond M,
|
||
Siam L,
|
||
Tran J,
|
||
Hill-Bennett T,
|
||
Zhan T,
|
||
Levin AV</span><br />
|
||
<span class="medgenPMjournal">Can J Ophthalmol</span>
|
||
2021 Feb;56(1):43-48.
|
||
Epub 2020 Aug 6
|
||
doi: 10.1016/j.jcjo.2020.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32771327" target="_blank">32771327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21397803">Relationship of slow-phase velocity to visual acuity in infantile nystagmus associated with albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss AH,
|
||
Kelly JP,
|
||
Phillips JO</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2011 Feb;15(1):33-9.
|
||
doi: 10.1016/j.jaapos.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21397803" target="_blank">21397803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16453125">Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graw J,
|
||
Klopp N,
|
||
Illig T,
|
||
Preising MN,
|
||
Lorenz B</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2006 Aug;244(8):912-9.
|
||
Epub 2006 Feb 2
|
||
doi: 10.1007/s00417-005-0234-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16453125" target="_blank">16453125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1911656">Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeki SM,
|
||
Dudgeon J,
|
||
Dutton GN</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1991 Sep;75(9):538-41.
|
||
doi: 10.1136/bjo.75.9.538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1911656" target="_blank">1911656</a><a href="/pmc/articles/PMC1042469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%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/37647922">A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fries FN,
|
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Náray A,
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Munteanu C,
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Stachon T,
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Lagali N,
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Seitz B,
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Szentmáry N,
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Käsmann-Kellner B</span><br />
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<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
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2024 Mar;241(3):275-282.
|
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Epub 2023 Aug 30
|
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doi: 10.1055/a-2065-8405.
|
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<span class="bold">PMID: </span><a href="/pubmed/37647922" target="_blank">37647922</a><a href="/pmc/articles/PMC10954372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32771327">Referral outcomes from a vision screening program for school-aged children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silverstein M,
|
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Scharf K,
|
||
Mayro EL,
|
||
Hark LA,
|
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Snitzer M,
|
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Anhalt J,
|
||
Pond M,
|
||
Siam L,
|
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Tran J,
|
||
Hill-Bennett T,
|
||
Zhan T,
|
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Levin AV</span><br />
|
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<span class="medgenPMjournal">Can J Ophthalmol</span>
|
||
2021 Feb;56(1):43-48.
|
||
Epub 2020 Aug 6
|
||
doi: 10.1016/j.jcjo.2020.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32771327" target="_blank">32771327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17031679">De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brinckmann A,
|
||
Rüther K,
|
||
Williamson K,
|
||
Lorenz B,
|
||
Lucke B,
|
||
Nürnberg P,
|
||
Trijbels F,
|
||
Janssen A,
|
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Schuelke M</span><br />
|
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<span class="medgenPMjournal">J Mol Med (Berl)</span>
|
||
2007 Feb;85(2):163-8.
|
||
Epub 2006 Oct 10
|
||
doi: 10.1007/s00109-006-0112-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17031679" target="_blank">17031679</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10962699">Spectral filters in low-vision correction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenblum YZ,
|
||
Zak PP,
|
||
Ostrovsky MA,
|
||
Smolyaninova IL,
|
||
Bora EV,
|
||
Dyadina UV,
|
||
Trofimova NN,
|
||
Aliyev AG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Physiol Opt</span>
|
||
2000 Jul;20(4):335-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10962699" target="_blank">10962699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8350228">Macular hypoplasia in familial cataracts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Howard CW,
|
||
Smith AG,
|
||
Warman R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1993 May-Jun;30(3):176-7.
|
||
doi: 10.3928/0191-3913-19930501-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8350228" target="_blank">8350228</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%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 (19)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16453125">Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graw J,
|
||
Klopp N,
|
||
Illig T,
|
||
Preising MN,
|
||
Lorenz B</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2006 Aug;244(8):912-9.
|
||
Epub 2006 Feb 2
|
||
doi: 10.1007/s00417-005-0234-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16453125" target="_blank">16453125</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%20hypoplasia%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36097645">Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Qin T,
|
||
Tan H,
|
||
Ding X,
|
||
Lin X,
|
||
Li J,
|
||
Lin Z,
|
||
Sun L,
|
||
Lin H,
|
||
Chen W</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Oct;188(10):2888-2898.
|
||
Epub 2022 Aug 11
|
||
doi: 10.1002/ajmg.a.62947.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36097645" target="_blank">36097645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25435751">Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang JW,
|
||
Kim JH,
|
||
Kim SJ,
|
||
Yu YS</span><br />
|
||
<span class="medgenPMjournal">Korean J Ophthalmol</span>
|
||
2014 Dec;28(6):479-85.
|
||
Epub 2014 Nov 19
|
||
doi: 10.3341/kjo.2014.28.6.479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25435751" target="_blank">25435751</a><a href="/pmc/articles/PMC4239467" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21397803">Relationship of slow-phase velocity to visual acuity in infantile nystagmus associated with albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss AH,
|
||
Kelly JP,
|
||
Phillips JO</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2011 Feb;15(1):33-9.
|
||
doi: 10.1016/j.jaapos.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21397803" target="_blank">21397803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20635810">Complications and visual prognosis in children with aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee H,
|
||
Meyers K,
|
||
Lanigan B,
|
||
O'Keefe M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2010 Jul-Aug;47(4):205-10; quiz 211-2.
|
||
Epub 2009 Aug 21
|
||
doi: 10.3928/01913913-20090818-07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20635810" target="_blank">20635810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17031679">De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brinckmann A,
|
||
Rüther K,
|
||
Williamson K,
|
||
Lorenz B,
|
||
Lucke B,
|
||
Nürnberg P,
|
||
Trijbels F,
|
||
Janssen A,
|
||
Schuelke M</span><br />
|
||
<span class="medgenPMjournal">J Mol Med (Berl)</span>
|
||
2007 Feb;85(2):163-8.
|
||
Epub 2006 Oct 10
|
||
doi: 10.1007/s00109-006-0112-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17031679" target="_blank">17031679</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36097645">Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Qin T,
|
||
Tan H,
|
||
Ding X,
|
||
Lin X,
|
||
Li J,
|
||
Lin Z,
|
||
Sun L,
|
||
Lin H,
|
||
Chen W</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Oct;188(10):2888-2898.
|
||
Epub 2022 Aug 11
|
||
doi: 10.1002/ajmg.a.62947.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36097645" target="_blank">36097645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21397803">Relationship of slow-phase velocity to visual acuity in infantile nystagmus associated with albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss AH,
|
||
Kelly JP,
|
||
Phillips JO</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2011 Feb;15(1):33-9.
|
||
doi: 10.1016/j.jaapos.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21397803" target="_blank">21397803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19610097">Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao X,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2009 Aug;149A(8):1786-8.
|
||
doi: 10.1002/ajmg.a.32818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19610097" target="_blank">19610097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12825057">Ocular findings in lissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nabi NU,
|
||
Mezer E,
|
||
Blaser SI,
|
||
Levin AA,
|
||
Buncic JR</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2003 Jun;7(3):178-84.
|
||
doi: 10.1016/s1091-8531(02)42005-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12825057" target="_blank">12825057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1911656">Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeki SM,
|
||
Dudgeon J,
|
||
Dutton GN</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1991 Sep;75(9):538-41.
|
||
doi: 10.1136/bjo.75.9.538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1911656" target="_blank">1911656</a><a href="/pmc/articles/PMC1042469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Macular%20hypoplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(macular%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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