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<meta name="keywords" content="C1855925, finding, high hypermetropia, high hyperopia, high-grade hypermetropia, hyperopia, high, severe farsightedness, severe long-sightedness, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A severe form of hypermetropia with over +5.00 diopters." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=341009
|
||
ConceptID=C1855925
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperopia, high</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341009</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:">C1855925</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hyperopia, High</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:0008499">HP:0008499</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009392" target="_blank">MONDO:0009392</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/238950" target="_blank">238950</a></td></tr>
|
||
</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>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A severe form of hypermetropia with over +5.00 diopters. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_341009"><div><strong>Hyperopia, high</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341009</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:">C1855925</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of hypermetropia with over +5.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341009">Feature record</a> | <a href="/medgen?term=%22Hyperopia%2C%20high%22%5BClinical%20Features%5D%20OR%20341009%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperopia, high</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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=341009" target="_blank" href="/omim/238950">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341009" ref="ncbi_uid=341009">V</a></span></span><span class="TLline">Hyperopia, high</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/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871349" ref="tree=MeSH" title="MedGen record for Abnormality of refraction">Abnormality of refraction</a></span><ul><li><span class="TLline"><a href="/medgen/43780" ref="tree=MeSH" title="MedGen record for Hypermetropia">Hypermetropia</a></span><ul><li><span class="matched_ds">Hyperopia, high</span><ul><li><span class="TLline"><a href="/medgen/573299" ref="tree=MeSH" title="MedGen record for Latent hypermetropia">Latent hypermetropia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_164212"><div><strong>SHORT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164212</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.">C0878684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374019"><div><strong>Retinitis pigmentosa 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374019</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.">C1838647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374019">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344245"><div><strong>Leber congenital amaurosis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344245</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.">C1854260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344245">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381546"><div><strong>Isolated microphthalmia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381546</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.">C1855052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated Microphthalmia MCOP1 has been mapped to chromosome 14q32. MCOP2 (610093) is caused by mutation in the CHX10 gene (142993) on chromosome 14q24. MCOP4 (613094) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22. MCOP5 (611040) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. MCOP6 (613517) is caused by mutation in the PRSS56 gene (613858) on chromosome 2q37. MCOP7 (613704) is caused by mutation in the GDF3 gene (606522) on chromosome 12p13. MCOP8 (615113) is caused by mutation in the ALDH1A3 gene (600463) on chromosome 15q26. A disorder formerly designated MCOP3 has been reclassified as syndromic microphthalmia-16 (611038).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/381546">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_341009"><div><strong>Hyperopia, high</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341009</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:">C1855925</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A severe form of hypermetropia with over +5.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341009">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388031"><div><strong>Leber congenital amaurosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388031</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.">C1858301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/388031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_368490"><div><strong>Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>368490</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.">C1968637</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/368490">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410021"><div><strong>Isolated microphthalmia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410021</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.">C1970236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/410021">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_462107"><div><strong>Isolated microphthalmia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462107</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.">C3150757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462107">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462552"><div><strong>Leber congenital amaurosis 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462552</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.">C3151202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/462552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501210"><div><strong>Jalili syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501210</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.">C3495589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by Parry et al., 2009).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/501210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815116"><div><strong>Oculocutaneous albinism type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815116</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.">C3808786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocutaneous albinism type VII (OCA7) is an autosomal recessive hypopigmentation disorder with predominant eye involvement including nystagmus, iris transillumination, and crossed asymmetry of the cortical visual response (Gronskov et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815116">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854728"><div><strong>Hermansky-Pudlak syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854728</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.">C3888026</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/854728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897292"><div><strong>Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897292</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.">C4225323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897292">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934729"><div><strong>Developmental and epileptic encephalopathy, 38</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934729</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.">C4310762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934729">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1389156"><div><strong>Intellectual disability, X-linked 106</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1389156</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.">C4478379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1389156">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646810"><div><strong>Leber congenital amaurosis with early-onset deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646810</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.">C4693498</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Leber congenital amaurosis with early-onset deafness (LCAEOD) is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646810">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1779589"><div><strong>Hypotaurinemic retinal degeneration and cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779589</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.">C5542181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1779589">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780157"><div><strong>Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780157</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.">C5543257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780157">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794194"><div><strong>Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794194</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.">C5561984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794194">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794214"><div><strong>Developmental delay with or without intellectual impairment or behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794214</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.">C5562004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847272"><div><strong>Garg-Mishra progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847272</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.">C5882717</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Garg-Mishra progeroid syndrome (GMPGS) is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy (summary by Garg et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847272">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1856733"><div><strong>Microphthalmia/coloboma 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856733</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia/coloboma-11 (MCOPCB11) is characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Incomplete penetrance as well as intrafamilial and intraindividual phenotypic variability have been observed (Liu et al., 2016; Aubert-Mucca et al., 2021; Jiang et al., 2021; Holt et al., 2022). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1856733">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 38</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with or without intellectual impairment or behavioral abnormalities</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Garg-Mishra progeroid syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 8</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', 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_341009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperopia, high</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotaurinemic retinal degeneration and cardiomyopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1389156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 106</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated microphthalmia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated microphthalmia 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated microphthalmia 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jalili syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646810" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis with early-onset deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_368490" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia/coloboma 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SHORT syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</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/38346124">Factors Predicting the Need for Re-treatment After Laser Refractive Surgery in Patients With Mixed Astigmatism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorkin N,
|
||
Kaiserman I,
|
||
Kayal M,
|
||
Levinger E,
|
||
Mashour RS,
|
||
Sela T,
|
||
Munzer G,
|
||
Mimouni M</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2024 Feb;40(2):e73-e78.
|
||
Epub 2024 Feb 1
|
||
doi: 10.3928/1081597X-20231212-06.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38346124" target="_blank">38346124</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36745850">FS-LASIK for the treatment of moderate-to-high hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alió Del Barrio JL,
|
||
Milán-Castillo R,
|
||
Canto-Cerdan M,
|
||
Molina-Lespron A,
|
||
Alió JL</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Jun 1;49(6):558-564.
|
||
doi: 10.1097/j.jcrs.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36745850" target="_blank">36745850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36206858">Ocular findings and genetic test in Alström syndrome in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Huang L,
|
||
Sun L,
|
||
Li S,
|
||
Zhang Z,
|
||
Zhang T,
|
||
Lai Y,
|
||
Ding X</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2022 Dec;225:109277.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1016/j.exer.2022.109277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36206858" target="_blank">36206858</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperopia%2C%20high%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 (7)</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/36951871">Evaluation of a Pilot Protocol for Detecting Infant Hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrison AM,
|
||
Mutti DO</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2023 May 1;100(5):304-311.
|
||
Epub 2023 Mar 23
|
||
doi: 10.1097/OPX.0000000000002011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36951871" target="_blank">36951871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36745850">FS-LASIK for the treatment of moderate-to-high hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alió Del Barrio JL,
|
||
Milán-Castillo R,
|
||
Canto-Cerdan M,
|
||
Molina-Lespron A,
|
||
Alió JL</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Jun 1;49(6):558-564.
|
||
doi: 10.1097/j.jcrs.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36745850" target="_blank">36745850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34889862">Detection of Significant Hyperopia in Preschool Children Using Two Automated Vision Screeners.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguire MG,
|
||
Ying GS,
|
||
Ciner EB,
|
||
Kulp MT,
|
||
Candy TR,
|
||
Moore B;
|
||
Vision in Preschoolers (VIP) Study Group</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2022 Feb 1;99(2):114-120.
|
||
doi: 10.1097/OPX.0000000000001837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34889862" target="_blank">34889862</a><a href="/pmc/articles/PMC8816853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31262252">Post-operative analysis of pediatric esotropia associated with high hypermetropia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li B,
|
||
Sharan S</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2019 Jul 1;19(1):140.
|
||
doi: 10.1186/s12886-019-1149-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31262252" target="_blank">31262252</a><a href="/pmc/articles/PMC6604460" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27977035">Detecting High Hyperopia: The Plus Lens Test and the Spot Vision Screener.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feldman S,
|
||
Peterseim MMW,
|
||
Trivedi RH,
|
||
Edward Wilson M,
|
||
Cheeseman EW,
|
||
Papa CE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2017 May 1;54(3):163-167.
|
||
Epub 2016 Dec 16
|
||
doi: 10.3928/01913913-20161013-05.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27977035" target="_blank">27977035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperopia%2C%20high%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 (44)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36951871">Evaluation of a Pilot Protocol for Detecting Infant Hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrison AM,
|
||
Mutti DO</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2023 May 1;100(5):304-311.
|
||
Epub 2023 Mar 23
|
||
doi: 10.1097/OPX.0000000000002011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36951871" target="_blank">36951871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36206858">Ocular findings and genetic test in Alström syndrome in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Huang L,
|
||
Sun L,
|
||
Li S,
|
||
Zhang Z,
|
||
Zhang T,
|
||
Lai Y,
|
||
Ding X</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2022 Dec;225:109277.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1016/j.exer.2022.109277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36206858" target="_blank">36206858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34889862">Detection of Significant Hyperopia in Preschool Children Using Two Automated Vision Screeners.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguire MG,
|
||
Ying GS,
|
||
Ciner EB,
|
||
Kulp MT,
|
||
Candy TR,
|
||
Moore B;
|
||
Vision in Preschoolers (VIP) Study Group</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2022 Feb 1;99(2):114-120.
|
||
doi: 10.1097/OPX.0000000000001837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34889862" target="_blank">34889862</a><a href="/pmc/articles/PMC8816853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30045155">OPTICALLY EMPTY CHOROIDAL SPACES IN HIGH HYPEROPIA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichi F,
|
||
Sarraf D</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2021 Mar 1;15(2):145-148.
|
||
doi: 10.1097/ICB.0000000000000799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30045155" target="_blank">30045155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27977035">Detecting High Hyperopia: The Plus Lens Test and the Spot Vision Screener.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feldman S,
|
||
Peterseim MMW,
|
||
Trivedi RH,
|
||
Edward Wilson M,
|
||
Cheeseman EW,
|
||
Papa CE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2017 May 1;54(3):163-167.
|
||
Epub 2016 Dec 16
|
||
doi: 10.3928/01913913-20161013-05.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27977035" target="_blank">27977035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperopia%2C%20high%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 (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37257174">Therapeutic visual rehabilitation in a patient with high hyperopia and flat cornea years after radial keratotomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santhiago MR,
|
||
Dutra BAL,
|
||
Morgado CR,
|
||
Seiler TG,
|
||
Wendelstein J,
|
||
Awwad ST,
|
||
Assaf JF,
|
||
Ghanem RC,
|
||
Ghanem VC,
|
||
Talley Rostov AR,
|
||
Wiley WF</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Jun 1;49(6):649-653.
|
||
doi: 10.1097/j.jcrs.0000000000001196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37257174" target="_blank">37257174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36745850">FS-LASIK for the treatment of moderate-to-high hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alió Del Barrio JL,
|
||
Milán-Castillo R,
|
||
Canto-Cerdan M,
|
||
Molina-Lespron A,
|
||
Alió JL</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Jun 1;49(6):558-564.
|
||
doi: 10.1097/j.jcrs.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36745850" target="_blank">36745850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30175611">Bioptics for high hyperopia with combined multifocal intraocular lens implantation and excimer ablation in young patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trivizki O,
|
||
Smadja D,
|
||
Mimouni M,
|
||
Levinger S,
|
||
Levinger E</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2019 Jul;29(4):426-430.
|
||
Epub 2018 Sep 3
|
||
doi: 10.1177/1120672118797281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30175611" target="_blank">30175611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29425389">Factors Influencing Cyclotorsion During Photorefractive Keratectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alipour F,
|
||
Veisi Hampa F,
|
||
Ashrafi E,
|
||
Dehghani S</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2018 Feb 1;34(2):106-112.
|
||
doi: 10.3928/1081597X-20171128-02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29425389" target="_blank">29425389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27469426">Laser in situ keratomileusis for high hyperopia with corneal vertex centration and asymmetric offset.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Ortueta D,
|
||
Arba-Mosquera S</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2017 Mar 10;27(2):141-152.
|
||
Epub 2016 Jul 23
|
||
doi: 10.5301/ejo.5000835.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27469426" target="_blank">27469426</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperopia%2C%20high%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38168030">Lens power, cornea power and association with refractive error in children with moderate to high hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Luo R,
|
||
Zhuo Y,
|
||
Deng D</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Physiol Opt</span>
|
||
2024 Mar;44(2):292-300.
|
||
Epub 2024 Jan 2
|
||
doi: 10.1111/opo.13266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38168030" target="_blank">38168030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36745850">FS-LASIK for the treatment of moderate-to-high hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alió Del Barrio JL,
|
||
Milán-Castillo R,
|
||
Canto-Cerdan M,
|
||
Molina-Lespron A,
|
||
Alió JL</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Jun 1;49(6):558-564.
|
||
doi: 10.1097/j.jcrs.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36745850" target="_blank">36745850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31262252">Post-operative analysis of pediatric esotropia associated with high hypermetropia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li B,
|
||
Sharan S</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2019 Jul 1;19(1):140.
|
||
doi: 10.1186/s12886-019-1149-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31262252" target="_blank">31262252</a><a href="/pmc/articles/PMC6604460" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29425389">Factors Influencing Cyclotorsion During Photorefractive Keratectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alipour F,
|
||
Veisi Hampa F,
|
||
Ashrafi E,
|
||
Dehghani S</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2018 Feb 1;34(2):106-112.
|
||
doi: 10.3928/1081597X-20171128-02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29425389" target="_blank">29425389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27977035">Detecting High Hyperopia: The Plus Lens Test and the Spot Vision Screener.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feldman S,
|
||
Peterseim MMW,
|
||
Trivedi RH,
|
||
Edward Wilson M,
|
||
Cheeseman EW,
|
||
Papa CE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2017 May 1;54(3):163-167.
|
||
Epub 2016 Dec 16
|
||
doi: 10.3928/01913913-20161013-05.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27977035" target="_blank">27977035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperopia%2C%20high%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 (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37199799">Visual outcomes and corneal densitometry after allogenic and autologous lenticule intrastromal keratoplasty for the correction of moderate-to-high hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin F,
|
||
Cheng C,
|
||
Li M,
|
||
Liu S,
|
||
Zhou X</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2023 Oct;261(10):3015-3022.
|
||
Epub 2023 May 18
|
||
doi: 10.1007/s00417-023-06097-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37199799" target="_blank">37199799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36810237">Ten-year refractive and visual outcomes of intraocular lens implantation in infants with congenital cataract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan JJT,
|
||
Wong ES,
|
||
Lam CPS,
|
||
Yam JC</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2023 Feb;29(1):22-30.
|
||
doi: 10.12809/hkmj209241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36810237" target="_blank">36810237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36745850">FS-LASIK for the treatment of moderate-to-high hyperopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alió Del Barrio JL,
|
||
Milán-Castillo R,
|
||
Canto-Cerdan M,
|
||
Molina-Lespron A,
|
||
Alió JL</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Jun 1;49(6):558-564.
|
||
doi: 10.1097/j.jcrs.0000000000001153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36745850" target="_blank">36745850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29425389">Factors Influencing Cyclotorsion During Photorefractive Keratectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alipour F,
|
||
Veisi Hampa F,
|
||
Ashrafi E,
|
||
Dehghani S</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2018 Feb 1;34(2):106-112.
|
||
doi: 10.3928/1081597X-20171128-02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29425389" target="_blank">29425389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27977035">Detecting High Hyperopia: The Plus Lens Test and the Spot Vision Screener.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feldman S,
|
||
Peterseim MMW,
|
||
Trivedi RH,
|
||
Edward Wilson M,
|
||
Cheeseman EW,
|
||
Papa CE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2017 May 1;54(3):163-167.
|
||
Epub 2016 Dec 16
|
||
doi: 10.3928/01913913-20161013-05.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27977035" target="_blank">27977035</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperopia%2C%20high%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 (22)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=238950" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyperopia,%20high" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(%22hyperopia%2C%20high%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://catalog.coriell.org/Search?q=238950" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/hyperopia_high" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hyperopia,%20high" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Hyperopia,%20high" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Hyperopia,%20high%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=341009" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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