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<meta name="keywords" content="C1828210, annular macular dystrophy, bull eye maculopathy, bull's eye maculopathy, bull's-eye maculopathy, chloroquine retinopathy, disease or syndrome, finding, macular dystrophy, concentric annular, maculopathy, bull's eye, 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="Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=321812
|
||
ConceptID=C1828210
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bull eye maculopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321812</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.">C1828210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Bull's eye maculopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Bull's eye maculopathy (424169002); Bull's-eye maculopathy (424169002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011504">HP:0011504</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. [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><li><a href="#tabORDO">Orphanet</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1828210[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=321812">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=321812" ref="ncbi_uid=321812">V</a></span></span><span class="TLline">Bull eye maculopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1624166" ref="tree=MeSH" title="MedGen record for Abnormal macular morphology">Abnormal macular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892991" ref="tree=MeSH" title="MedGen record for Abnormality of macular pigmentation">Abnormality of macular pigmentation</a></span><ul><li><span class="matched_ds">Bull eye maculopathy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=19621&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Bull eye maculopathy</span> in Orphanet.</div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_78539"><div><strong>Cohen syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78539</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:">C0265223</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78539">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322767"><div><strong>Cone-rod dystrophy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322767</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.">C1835865</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/322767">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_383691"><div><strong>Severe early-childhood-onset retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383691</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.">C1855465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stargardt disease-1 (STGD1) is an autosomal recessive retinal disease that usually presents as a juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina (summary by Lee et al., 2021). Genetic Heterogeneity of Stargardt Disease Stargardt disease-3 (STGD3; 600110) is caused by mutation in the ELOVL4 gene (605512) on chromosome 6q14, and Stargardt disease-4 (STGD4; 603786) is caused by mutation in the PROM1 gene (604365) on chromosome 4. A locus for Stargardt disease mapped to chromosome 13q34 and designated STGD2 was found to be in error; the disorder in the family in which the linkage was made was correctly mapped to chromosome 6q14 (STGD3). Fundus flavimaculatus (FFM) is an allelic subtype of Stargardt disease that has been associated with mutation in the ABCA4 gene and the PRPH2 gene (179605). FFM has a later age of onset. If loss of visual acuity begins in the first 2 decades, the designation Stargardt disease is preferred; if it begins later in life and has a more progressive course, the term FFM is preferred (Weleber, 1994). An early-onset severe form of retinal dystrophy (CORD3; 604116) is caused by homozygous null mutations in the ABCA4 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383691">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349030"><div><strong>Cone-rod dystrophy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349030</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.">C1858806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349030">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355026"><div><strong>Cone-rod dystrophy 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355026</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.">C1863634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-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.\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\nThere 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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357247"><div><strong>Retinitis pigmentosa 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357247</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.">C1867299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357247">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356747"><div><strong>Retinal cone dystrophy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356747</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.">C1867326</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/356747">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393334"><div><strong>Cone-rod dystrophy 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393334</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.">C2675210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-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.\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\nThere 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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393334">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394544"><div><strong>Retinitis pigmentosa 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394544</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.">C2681923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394544">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481672"><div><strong>Retinitis pigmentosa 62</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481672</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.">C3280042</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 MAK gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481672">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482696"><div><strong>Usher syndrome type 3B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482696</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.">C3281066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1983; Pakarinen et al., 1995). For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482696">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863808"><div><strong>Macular dystrophy with central cone involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863808</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.">C4015371</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/863808">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794199"><div><strong>Cone-rod dystrophy 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794199</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.">C5561989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-rod dystrophy-22 (CORD22) is a retinal dystrophy characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life. There is significant degeneration of the macula, as well as generalized cone system involvement that predominates over rod system dysfunction, including in the peripheral retina (Bertrand et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794199">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808104"><div><strong>Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808104</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.">C5677021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter. Facial dysmorphisms include flat face, hypertelorism, epicanthal folds, synophrys, broad nasal bridge, cleft lip and cleft palate, and low-set posteriorly rotated ears. Patients also exhibit short neck and multiple costal and vertebral anomalies. The face is rather characteristic, and various authors have consistently reported affable/friendly personality, despite intellectual delay (summary by Alanay et al., 2014). Genetic Heterogeneity of Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome CFSMR2 (616994) is caused by mutation in the RAB5IF gene (619960) on chromosome 20q11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808104">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824048"><div><strong>Combined oxidative phosphorylation deficiency 57</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824048</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.">C5774275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824048">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cohen syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 57</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 22</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 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_863808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular dystrophy with central cone involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal cone dystrophy type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 62</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe early-childhood-onset retinal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482696" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Usher syndrome type 3B</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/18334518">Age-related macular degeneration: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cook HL,
|
||
Patel PJ,
|
||
Tufail A</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
2008;85:127-49.
|
||
doi: 10.1093/bmb/ldn012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18334518" target="_blank">18334518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10925530">No efficacious treatment for age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roodhooft J</span><br />
|
||
<span class="medgenPMjournal">Bull Soc Belge Ophtalmol</span>
|
||
2000;276:83-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10925530" target="_blank">10925530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7493121">Differentiated treatment of secondary cataract following extracapsular cataract operation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adank AM,
|
||
Hennekes R</span><br />
|
||
<span class="medgenPMjournal">Bull Soc Belge Ophtalmol</span>
|
||
1994;254:37-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7493121" target="_blank">7493121</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(bull%20eye%20maculopathy)%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/34802085">Natural and iatrogenic ocular manifestations of rheumatoid arthritis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dammacco R,
|
||
Guerriero S,
|
||
Alessio G,
|
||
Dammacco F</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Feb;42(2):689-711.
|
||
Epub 2021 Nov 21
|
||
doi: 10.1007/s10792-021-02058-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802085" target="_blank">34802085</a><a href="/pmc/articles/PMC8882568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596207">Delayed progression of bull's eye maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain S,
|
||
Jain NG</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2017 Jun 8;2017
|
||
doi: 10.1136/bcr-2017-220598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596207" target="_blank">28596207</a><a href="/pmc/articles/PMC5535135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25408748">Retinal toxicity associated with chronic exposure to hydroxychloroquine and its ocular screening. Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geamănu Pancă A,
|
||
Popa-Cherecheanu A,
|
||
Marinescu B,
|
||
Geamănu CD,
|
||
Voinea LM</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2014 Sep 15;7(3):322-6.
|
||
Epub 2014 Sep 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/25408748" target="_blank">25408748</a><a href="/pmc/articles/PMC4233433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18334518">Age-related macular degeneration: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cook HL,
|
||
Patel PJ,
|
||
Tufail A</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
2008;85:127-49.
|
||
doi: 10.1093/bmb/ldn012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18334518" target="_blank">18334518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2477110">Diabetic retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohner EM</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
1989 Jan;45(1):148-73.
|
||
doi: 10.1093/oxfordjournals.bmb.a072309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2477110" target="_blank">2477110</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bull%20eye%20maculopathy%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 (84)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38653277">Hunter Syndrome and Bull's Eye Maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Said S,
|
||
Blaser F,
|
||
Link B,
|
||
Gunzinger JM,
|
||
Hanson J,
|
||
Fasler K,
|
||
Muth DR,
|
||
Barthelmes D,
|
||
Zweifel S</span><br />
|
||
<span class="medgenPMjournal">Klin Monbl Augenheilkd</span>
|
||
2024 Apr;241(4):463-467.
|
||
Epub 2024 Apr 23
|
||
doi: 10.1055/a-2243-4636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38653277" target="_blank">38653277</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34802085">Natural and iatrogenic ocular manifestations of rheumatoid arthritis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dammacco R,
|
||
Guerriero S,
|
||
Alessio G,
|
||
Dammacco F</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Feb;42(2):689-711.
|
||
Epub 2021 Nov 21
|
||
doi: 10.1007/s10792-021-02058-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802085" target="_blank">34802085</a><a href="/pmc/articles/PMC8882568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31018071">Bull's-Eye Maculopathy Associated with Hydroxychloroquine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Modi YS,
|
||
Singh RP</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Apr 25;380(17):1656.
|
||
doi: 10.1056/NEJMicm1412167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31018071" target="_blank">31018071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18334518">Age-related macular degeneration: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cook HL,
|
||
Patel PJ,
|
||
Tufail A</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
2008;85:127-49.
|
||
doi: 10.1093/bmb/ldn012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18334518" target="_blank">18334518</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11344717">White spots syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verougstraete C</span><br />
|
||
<span class="medgenPMjournal">Bull Soc Belge Ophtalmol</span>
|
||
2001;(279):67-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11344717" target="_blank">11344717</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bull%20eye%20maculopathy%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 (142)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34802085">Natural and iatrogenic ocular manifestations of rheumatoid arthritis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dammacco R,
|
||
Guerriero S,
|
||
Alessio G,
|
||
Dammacco F</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Feb;42(2):689-711.
|
||
Epub 2021 Nov 21
|
||
doi: 10.1007/s10792-021-02058-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802085" target="_blank">34802085</a><a href="/pmc/articles/PMC8882568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31018071">Bull's-Eye Maculopathy Associated with Hydroxychloroquine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Modi YS,
|
||
Singh RP</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Apr 25;380(17):1656.
|
||
doi: 10.1056/NEJMicm1412167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31018071" target="_blank">31018071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29199229">Mammalian Target of Rapamycin (mTOR) as a Potential Therapeutic Target in Pathological Ocular Angiogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakahara T,
|
||
Morita A,
|
||
Yagasaki R,
|
||
Mori A,
|
||
Sakamoto K</span><br />
|
||
<span class="medgenPMjournal">Biol Pharm Bull</span>
|
||
2017;40(12):2045-2049.
|
||
doi: 10.1248/bpb.b17-00475.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29199229" target="_blank">29199229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16550811">Nutritional supplements for macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Drug Ther Bull</span>
|
||
2006 Feb;44(2):9-11.
|
||
doi: 10.1136/dtb.2006.4429.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16550811" target="_blank">16550811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15687518">Chloroquine-induced bull's eye maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai WW,
|
||
Lam DS</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2005 Feb;11(1):55-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15687518" target="_blank">15687518</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bull%20eye%20maculopathy%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 (80)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30589393">Bull's eye maculopathy caused by a novel IMPG-1 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González-Gómez A,
|
||
Romero-Trevejo JL,
|
||
García-Ben A,
|
||
García-Campos JM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2019 Feb;40(1):71-73.
|
||
Epub 2018 Dec 27
|
||
doi: 10.1080/13816810.2018.1561903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30589393" target="_blank">30589393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578500">Stargardt Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang SH,
|
||
Sharma T</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1085:139-151.
|
||
doi: 10.1007/978-3-319-95046-4_27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578500" target="_blank">30578500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28195610">Hydroxychloroquine Screening Alert: Change is in the Wind.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marmor MF</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2017 Feb 1;48(2):96-98.
|
||
doi: 10.3928/23258160-20170130-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28195610" target="_blank">28195610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25408748">Retinal toxicity associated with chronic exposure to hydroxychloroquine and its ocular screening. Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geamănu Pancă A,
|
||
Popa-Cherecheanu A,
|
||
Marinescu B,
|
||
Geamănu CD,
|
||
Voinea LM</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2014 Sep 15;7(3):322-6.
|
||
Epub 2014 Sep 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/25408748" target="_blank">25408748</a><a href="/pmc/articles/PMC4233433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/588526">Bull's eye maculopathy with early cone degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grey RH,
|
||
Blach RK,
|
||
Barnard WM</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1977 Nov;61(11):702-18.
|
||
doi: 10.1136/bjo.61.11.702.
|
||
<span class="bold">PMID: </span><a href="/pubmed/588526" target="_blank">588526</a><a href="/pmc/articles/PMC1043101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bull%20eye%20maculopathy%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 (57)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37239417">Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim DG,
|
||
Joo K,
|
||
Han J,
|
||
Choi M,
|
||
Kim SW,
|
||
Park KH,
|
||
Park SJ,
|
||
Lee CS,
|
||
Byeon SH,
|
||
Woo SJ</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 May 8;14(5)
|
||
doi: 10.3390/genes14051057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37239417" target="_blank">37239417</a><a href="/pmc/articles/PMC10218017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34802085">Natural and iatrogenic ocular manifestations of rheumatoid arthritis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dammacco R,
|
||
Guerriero S,
|
||
Alessio G,
|
||
Dammacco F</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Feb;42(2):689-711.
|
||
Epub 2021 Nov 21
|
||
doi: 10.1007/s10792-021-02058-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802085" target="_blank">34802085</a><a href="/pmc/articles/PMC8882568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29752877">Characterization of Retinal Pigment Epithelial Melanin and Degraded Synthetic Melanin Using Mass Spectrometry and In Vitro Biochemical Diagnostics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yacout SM,
|
||
McIlwain KL,
|
||
Mirza SP,
|
||
Gaillard ER</span><br />
|
||
<span class="medgenPMjournal">Photochem Photobiol</span>
|
||
2019 Jan;95(1):183-191.
|
||
Epub 2018 Jun 7
|
||
doi: 10.1111/php.12934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29752877" target="_blank">29752877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25827171">Do Beta 2-Glycoprotein I Disulfide Bonds Protect the Human Retina in the Setting of Age-Related Macular Degeneration?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qi M,
|
||
Abdelatti M,
|
||
Krilis M,
|
||
Madigan MC,
|
||
Weaver J,
|
||
Guymer RH,
|
||
McCluskey P,
|
||
Wang Y,
|
||
Zhou S,
|
||
Krilis SA,
|
||
Giannakopoulos B</span><br />
|
||
<span class="medgenPMjournal">Antioxid Redox Signal</span>
|
||
2016 Jan 1;24(1):32-8.
|
||
Epub 2015 May 4
|
||
doi: 10.1089/ars.2014.6052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25827171" target="_blank">25827171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9202155">The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azarian SM,
|
||
Travis GH</span><br />
|
||
<span class="medgenPMjournal">FEBS Lett</span>
|
||
1997 Jun 9;409(2):247-52.
|
||
doi: 10.1016/s0014-5793(97)00517-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9202155" target="_blank">9202155</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bull%20eye%20maculopathy%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 (72)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34802085">Natural and iatrogenic ocular manifestations of rheumatoid arthritis: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dammacco R,
|
||
Guerriero S,
|
||
Alessio G,
|
||
Dammacco F</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Feb;42(2):689-711.
|
||
Epub 2021 Nov 21
|
||
doi: 10.1007/s10792-021-02058-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34802085" target="_blank">34802085</a><a href="/pmc/articles/PMC8882568" 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=%22Bull%20eye%20maculopathy%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1828210%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
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<li><a href="/gtr/tests?term=C1828210%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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