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<meta name="keywords" content="C1301509, disease or syndrome, marked vision impairment, severe loss of vision, severe reduction in visual acuity, severe vision loss, severe visual impairment, severe visual loss, severely impaired vision, severely reduced visual acuity, visual impairment, severe, 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="Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=226987
|
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ConceptID=C1301509
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Severely reduced visual acuity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226987</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.">C1301509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Severe visual impairment</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Severe visual impairment (397541004)</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:0001141">HP:0001141</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_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">Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. [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 mgSection" id="ID_118">
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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="TLline">Severely reduced visual acuity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/272632" ref="tree=MeSH" title="MedGen record for Finding by Site or System">Finding by Site or System</a></span><ul><li><span class="TLline"><a href="/medgen/108390" ref="tree=MeSH" title="MedGen record for Head and Neck Finding">Head and Neck Finding</a></span><ul><li><span class="TLline"><a href="/medgen/234247" ref="tree=MeSH" title="MedGen record for Eye and Ear Finding">Eye and Ear Finding</a></span><ul><li><span class="TLline"><a href="/medgen/662065" ref="tree=MeSH" title="MedGen record for Eye / vision finding">Eye / vision finding</a></span><ul><li><span class="TLline"><a href="/medgen/65889" ref="tree=MeSH" title="MedGen record for Reduced visual acuity">Reduced visual acuity</a></span><ul><li><span class="matched_ds">Severely reduced visual acuity</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_120643"><div><strong>Aland island eye disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120643</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.">C0268505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120643">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167088"><div><strong>Severe X-linked intellectual disability, Gustavson type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167088</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.">C0795965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Gustavson type of X-linked syndromic intellectual developmental disorder (MRXSG) is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood. Affected males have profoundly impaired intellectual development with absent speech, poor reaction to stimuli, optic atrophy, deafness, seizures, spasticity, and restriction of the large joints. Female carriers are usually unaffected due to skewed X inactivation that silences the pathogenic allele, although 1 severely affected female has been reported (Johansson et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167088">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_238456"><div><strong>Retinitis pigmentosa 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>238456</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.">C1419610</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 OFD1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/238456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322026"><div><strong>ALG3-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322026</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.">C1832736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). For a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337697"><div><strong>Senior-Loken syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337697</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.">C1846979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Senior-Loken syndrome-4 (SLSN4) is an autosomal recessive disorder characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa (Polak et al., 1983; Schuermann et al., 2002; Otto et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341379"><div><strong>Corneal-cerebellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341379</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.">C1849087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341379">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340413"><div><strong>Achromatopsia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340413</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.">C1849792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340413">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_409627"><div><strong>Autosomal recessive osteopetrosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409627</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.">C1968603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive osteopetrosis-5 (OPTB5) is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (summary by Quarello et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383126"><div><strong>Retinitis pigmentosa 41</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383126</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.">C2677516</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 PROM1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383126">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413025"><div><strong>Cone-rod dystrophy 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413025</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.">C2750720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413025">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419514"><div><strong>Hermansky-Pudlak syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419514</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.">C2931875</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/419514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462229"><div><strong>Retinitis pigmentosa 58</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462229</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.">C3150879</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 ZNF513 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462229">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462436"><div><strong>Retinitis pigmentosa 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462436</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.">C3151086</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 RPE65 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462436">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481988"><div><strong>Wolfram-like syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481988</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.">C3280358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481988">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_886621"><div><strong>Cataract 40</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>886621</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.">C4049004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/886621">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794153"><div><strong>Retinal dystrophy and microvillus inclusion disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794153</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.">C5561943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal dystrophy and microvillus inclusion disease (RDMVID) is characterized by early-onset severe retinal dystrophy in association with intractable congenital diarrhea requiring total parenteral nutrition (TPN). Intestinal biopsies show typical features of microvillus inclusion disease (MVID), including loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in epithelial cells (Janecke et al., 2021). Because STX3 isoform B (STX3B) predominates in the retina, mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhea (DIAR12; 619445).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794153">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achromatopsia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aland island eye disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG3-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_886621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract 40</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal-cerebellar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 1</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_1794153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy and microvillus inclusion disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_238456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 41</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 58</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Senior-Loken syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe X-linked intellectual disability, Gustavson type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram-like 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/31952875">Acute ischemic optic nerve disease: Pathophysiology, clinical features and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Augstburger E,
|
||
Héron E,
|
||
Abanou A,
|
||
Habas C,
|
||
Baudouin C,
|
||
Labbé A</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2020 Feb;43(2):e41-e54.
|
||
Epub 2020 Jan 15
|
||
doi: 10.1016/j.jfo.2019.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31952875" target="_blank">31952875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31833253">Current Management of Childhood Amblyopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park SH</span><br />
|
||
<span class="medgenPMjournal">Korean J Ophthalmol</span>
|
||
2019 Dec;33(6):557-568.
|
||
doi: 10.3341/kjo.2019.0061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31833253" target="_blank">31833253</a><a href="/pmc/articles/PMC6911788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31048580">The Role of Steroids in the Management of Diabetic Macular Edema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zur D,
|
||
Iglicki M,
|
||
Loewenstein A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2019;62(4):231-236.
|
||
Epub 2019 May 2
|
||
doi: 10.1159/000499540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31048580" target="_blank">31048580</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(severely%20reduced%20visual%20acuity)%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 (113)</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/39128551">Progression Patterns and Risk Factors of Axial Elongation in Young Adults With Nonpathologic High Myopia: Three-Year Large Longitudinal Cohort Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong K,
|
||
Jiang J,
|
||
Wang P,
|
||
Song Y,
|
||
Lin F,
|
||
Li F,
|
||
Gao X,
|
||
Liu X,
|
||
Jin L,
|
||
Wang Z,
|
||
Liu Y,
|
||
Chen M,
|
||
Ohno-Matsui K,
|
||
Jonas JB,
|
||
Chen S,
|
||
Zhang X;
|
||
GLAUCOMA SUSPECTS WITH HIGH MYOPIA STUDY GROUP</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Nov;267:293-303.
|
||
Epub 2024 Aug 14
|
||
doi: 10.1016/j.ajo.2024.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39128551" target="_blank">39128551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31474439">Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao DS,
|
||
Grossi FV,
|
||
El Mehdi D,
|
||
Gerber MR,
|
||
Brown DM,
|
||
Heier JS,
|
||
Wykoff CC,
|
||
Singerman LJ,
|
||
Abraham P,
|
||
Grassmann F,
|
||
Nuernberg P,
|
||
Weber BHF,
|
||
Deschatelets P,
|
||
Kim RY,
|
||
Chung CY,
|
||
Ribeiro RM,
|
||
Hamdani M,
|
||
Rosenfeld PJ,
|
||
Boyer DS,
|
||
Slakter JS,
|
||
Francois CG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2020 Feb;127(2):186-195.
|
||
Epub 2019 Jul 16
|
||
doi: 10.1016/j.ophtha.2019.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31474439" target="_blank">31474439</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29682916">Pediatric Uveitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan NS,
|
||
Choi J,
|
||
Cheung CMG</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2018 May-Jun;7(3):192-199.
|
||
Epub 2018 Apr 23
|
||
doi: 10.22608/APO.2018116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29682916" target="_blank">29682916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22837627">Olive-harvesting eye injuries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yulish M,
|
||
Pikkel J</span><br />
|
||
<span class="medgenPMjournal">Middle East Afr J Ophthalmol</span>
|
||
2012 Jul-Sep;19(3):320-2.
|
||
doi: 10.4103/0974-9233.97939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22837627" target="_blank">22837627</a><a href="/pmc/articles/PMC3401803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severely%20reduced%20visual%20acuity%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 (1269)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39128551">Progression Patterns and Risk Factors of Axial Elongation in Young Adults With Nonpathologic High Myopia: Three-Year Large Longitudinal Cohort Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong K,
|
||
Jiang J,
|
||
Wang P,
|
||
Song Y,
|
||
Lin F,
|
||
Li F,
|
||
Gao X,
|
||
Liu X,
|
||
Jin L,
|
||
Wang Z,
|
||
Liu Y,
|
||
Chen M,
|
||
Ohno-Matsui K,
|
||
Jonas JB,
|
||
Chen S,
|
||
Zhang X;
|
||
GLAUCOMA SUSPECTS WITH HIGH MYOPIA STUDY GROUP</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Nov;267:293-303.
|
||
Epub 2024 Aug 14
|
||
doi: 10.1016/j.ajo.2024.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39128551" target="_blank">39128551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31474439">Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao DS,
|
||
Grossi FV,
|
||
El Mehdi D,
|
||
Gerber MR,
|
||
Brown DM,
|
||
Heier JS,
|
||
Wykoff CC,
|
||
Singerman LJ,
|
||
Abraham P,
|
||
Grassmann F,
|
||
Nuernberg P,
|
||
Weber BHF,
|
||
Deschatelets P,
|
||
Kim RY,
|
||
Chung CY,
|
||
Ribeiro RM,
|
||
Hamdani M,
|
||
Rosenfeld PJ,
|
||
Boyer DS,
|
||
Slakter JS,
|
||
Francois CG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2020 Feb;127(2):186-195.
|
||
Epub 2019 Jul 16
|
||
doi: 10.1016/j.ophtha.2019.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31474439" target="_blank">31474439</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29682916">Pediatric Uveitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan NS,
|
||
Choi J,
|
||
Cheung CMG</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2018 May-Jun;7(3):192-199.
|
||
Epub 2018 Apr 23
|
||
doi: 10.22608/APO.2018116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29682916" target="_blank">29682916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22837627">Olive-harvesting eye injuries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yulish M,
|
||
Pikkel J</span><br />
|
||
<span class="medgenPMjournal">Middle East Afr J Ophthalmol</span>
|
||
2012 Jul-Sep;19(3):320-2.
|
||
doi: 10.4103/0974-9233.97939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22837627" target="_blank">22837627</a><a href="/pmc/articles/PMC3401803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severely%20reduced%20visual%20acuity%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 (983)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34351414">Evaluation of Intravitreal Aflibercept for the Treatment of Severe Nonproliferative Diabetic Retinopathy: Results From the PANORAMA Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DM,
|
||
Wykoff CC,
|
||
Boyer D,
|
||
Heier JS,
|
||
Clark WL,
|
||
Emanuelli A,
|
||
Higgins PM,
|
||
Singer M,
|
||
Weinreich DM,
|
||
Yancopoulos GD,
|
||
Berliner AJ,
|
||
Chu K,
|
||
Reed K,
|
||
Cheng Y,
|
||
Vitti R</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2021 Sep 1;139(9):946-955.
|
||
doi: 10.1001/jamaophthalmol.2021.2809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34351414" target="_blank">34351414</a><a href="/pmc/articles/PMC8343518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28927495">Preventing Myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lagrèze WA,
|
||
Schaeffel F</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2017 Sep 4;114(35-36):575-580.
|
||
doi: 10.3238/arztebl.2017.0575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28927495" target="_blank">28927495</a><a href="/pmc/articles/PMC5615392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26565927">Panretinal Photocoagulation vs Intravitreous Ranibizumab for Proliferative Diabetic Retinopathy: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Writing Committee for the Diabetic Retinopathy Clinical Research Network,
|
||
Gross JG,
|
||
Glassman AR,
|
||
Jampol LM,
|
||
Inusah S,
|
||
Aiello LP,
|
||
Antoszyk AN,
|
||
Baker CW,
|
||
Berger BB,
|
||
Bressler NM,
|
||
Browning D,
|
||
Elman MJ,
|
||
Ferris FL 3rd,
|
||
Friedman SM,
|
||
Marcus DM,
|
||
Melia M,
|
||
Stockdale CR,
|
||
Sun JK,
|
||
Beck RW</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2015 Nov 24;314(20):2137-2146.
|
||
doi: 10.1001/jama.2015.15217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26565927" target="_blank">26565927</a><a href="/pmc/articles/PMC5567801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7487614">Results of the Endophthalmitis Vitrectomy Study. A randomized trial of immediate vitrectomy and of intravenous antibiotics for the treatment of postoperative bacterial endophthalmitis. Endophthalmitis Vitrectomy Study Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1995 Dec;113(12):1479-96.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7487614" target="_blank">7487614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2062510">Early Treatment Diabetic Retinopathy Study design and baseline patient characteristics. ETDRS report number 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Ophthalmology</span>
|
||
1991 May;98(5 Suppl):741-56.
|
||
doi: 10.1016/s0161-6420(13)38009-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2062510" target="_blank">2062510</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severely%20reduced%20visual%20acuity%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 (813)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39128551">Progression Patterns and Risk Factors of Axial Elongation in Young Adults With Nonpathologic High Myopia: Three-Year Large Longitudinal Cohort Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong K,
|
||
Jiang J,
|
||
Wang P,
|
||
Song Y,
|
||
Lin F,
|
||
Li F,
|
||
Gao X,
|
||
Liu X,
|
||
Jin L,
|
||
Wang Z,
|
||
Liu Y,
|
||
Chen M,
|
||
Ohno-Matsui K,
|
||
Jonas JB,
|
||
Chen S,
|
||
Zhang X;
|
||
GLAUCOMA SUSPECTS WITH HIGH MYOPIA STUDY GROUP</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Nov;267:293-303.
|
||
Epub 2024 Aug 14
|
||
doi: 10.1016/j.ajo.2024.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39128551" target="_blank">39128551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275950">Trends in prevalence of blindness and distance and near vision impairment over 30 years: an analysis for the Global Burden of Disease Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2019 Blindness and Vision Impairment Collaborators;
|
||
Vision Loss Expert Group of the Global Burden of Disease Study</span><br />
|
||
<span class="medgenPMjournal">Lancet Glob Health</span>
|
||
2021 Feb;9(2):e130-e143.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1016/S2214-109X(20)30425-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275950" target="_blank">33275950</a><a href="/pmc/articles/PMC7820390" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22837627">Olive-harvesting eye injuries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yulish M,
|
||
Pikkel J</span><br />
|
||
<span class="medgenPMjournal">Middle East Afr J Ophthalmol</span>
|
||
2012 Jul-Sep;19(3):320-2.
|
||
doi: 10.4103/0974-9233.97939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22837627" target="_blank">22837627</a><a href="/pmc/articles/PMC3401803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2062512">Early photocoagulation for diabetic retinopathy. ETDRS report number 9. Early Treatment Diabetic Retinopathy Study Research Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Ophthalmology</span>
|
||
1991 May;98(5 Suppl):766-85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2062512" target="_blank">2062512</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2062510">Early Treatment Diabetic Retinopathy Study design and baseline patient characteristics. ETDRS report number 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Ophthalmology</span>
|
||
1991 May;98(5 Suppl):741-56.
|
||
doi: 10.1016/s0161-6420(13)38009-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2062510" target="_blank">2062510</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severely%20reduced%20visual%20acuity%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 (640)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38573840">Topical Losartan for Treating Corneal Haze After Ultraviolet-A/Riboflavin Collagen Cross-Linking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodgers EG,
|
||
Al-Mohtaseb Z,
|
||
Chen AJ</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2024 Sep 1;43(9):1165-1170.
|
||
Epub 2024 Mar 22
|
||
doi: 10.1097/ICO.0000000000003527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38573840" target="_blank">38573840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36749332">Four-Year Visual Outcomes in the Protocol W Randomized Trial of Intravitreous Aflibercept for Prevention of Vision-Threatening Complications of Diabetic Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maturi RK,
|
||
Glassman AR,
|
||
Josic K,
|
||
Baker CW,
|
||
Gerstenblith AT,
|
||
Jampol LM,
|
||
Meleth A,
|
||
Martin DF,
|
||
Melia M,
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||
Punjabi OS,
|
||
Rofagha S,
|
||
Salehi-Had H,
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||
Stockdale CR,
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||
Sun JK;
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||
DRCR Retina Network</span><br />
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||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Feb 7;329(5):376-385.
|
||
doi: 10.1001/jama.2022.25029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36749332" target="_blank">36749332</a><a href="/pmc/articles/PMC10408259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275950">Trends in prevalence of blindness and distance and near vision impairment over 30 years: an analysis for the Global Burden of Disease Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2019 Blindness and Vision Impairment Collaborators;
|
||
Vision Loss Expert Group of the Global Burden of Disease Study</span><br />
|
||
<span class="medgenPMjournal">Lancet Glob Health</span>
|
||
2021 Feb;9(2):e130-e143.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1016/S2214-109X(20)30425-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275950" target="_blank">33275950</a><a href="/pmc/articles/PMC7820390" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28927495">Preventing Myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lagrèze WA,
|
||
Schaeffel F</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2017 Sep 4;114(35-36):575-580.
|
||
doi: 10.3238/arztebl.2017.0575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28927495" target="_blank">28927495</a><a href="/pmc/articles/PMC5615392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7487614">Results of the Endophthalmitis Vitrectomy Study. A randomized trial of immediate vitrectomy and of intravenous antibiotics for the treatment of postoperative bacterial endophthalmitis. Endophthalmitis Vitrectomy Study Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1995 Dec;113(12):1479-96.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7487614" target="_blank">7487614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severely%20reduced%20visual%20acuity%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 (708)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/38300578">Diabetic Retinopathy and Quality of Life: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zayed MG,
|
||
Karsan W,
|
||
Peto T,
|
||
Saravanan P,
|
||
Virgili G,
|
||
Preiss D</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2024 Mar 1;142(3):199-207.
|
||
doi: 10.1001/jamaophthalmol.2023.6435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38300578" target="_blank">38300578</a><a href="/pmc/articles/PMC10835609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37585677">Hyperbaric oxygen therapy for late radiation tissue injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin ZC,
|
||
Bennett MH,
|
||
Hawkins GC,
|
||
Azzopardi CP,
|
||
Feldmeier J,
|
||
Smee R,
|
||
Milross C</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Aug 15;8(8):CD005005.
|
||
doi: 10.1002/14651858.CD005005.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37585677" target="_blank">37585677</a><a href="/pmc/articles/PMC10426260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37310870">Fenofibrate for diabetic retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kataoka SY,
|
||
Lois N,
|
||
Kawano S,
|
||
Kataoka Y,
|
||
Inoue K,
|
||
Watanabe N</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Jun 13;6(6):CD013318.
|
||
doi: 10.1002/14651858.CD013318.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37310870" target="_blank">37310870</a><a href="/pmc/articles/PMC10264082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36912744">Medical interventions for traumatic hyphema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woreta FA,
|
||
Lindsley KB,
|
||
Gharaibeh A,
|
||
Ng SM,
|
||
Scherer RW,
|
||
Goldberg MF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Mar 13;3(3):CD005431.
|
||
doi: 10.1002/14651858.CD005431.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36912744" target="_blank">36912744</a><a href="/pmc/articles/PMC10010597" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275950">Trends in prevalence of blindness and distance and near vision impairment over 30 years: an analysis for the Global Burden of Disease Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2019 Blindness and Vision Impairment Collaborators;
|
||
Vision Loss Expert Group of the Global Burden of Disease Study</span><br />
|
||
<span class="medgenPMjournal">Lancet Glob Health</span>
|
||
2021 Feb;9(2):e130-e143.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1016/S2214-109X(20)30425-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275950" target="_blank">33275950</a><a href="/pmc/articles/PMC7820390" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Severely%20reduced%20visual%20acuity%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (57)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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