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<meta name="keywords" content="C5201048, complete achromatopsia, complete color blindness, disease or syndrome, monochromacy, rod monochromatism, total color blindness, total colorblindness, 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="Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1684677
|
||
ConceptID=C5201048
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Monochromacy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684677</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:">C5201048</span></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>Complete achromatopsia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Complete achromatopsia (789675009); Complete color blindness (789675009); Rod monochromatism (789675009); Total color blindness (789675009)</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:0007803">HP:0007803</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">Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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|
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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">Monochromacy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871352" ref="tree=MeSH" title="MedGen record for Abnormality of vision">Abnormality of vision</a></span><ul><li><span class="TLline"><a href="/medgen/115964" ref="tree=MeSH" title="MedGen record for Color vision defect">Color vision defect</a></span><ul><li><span class="matched_ds">Monochromacy</span><ul><li><span class="TLline"><a href="/medgen/57751" ref="tree=MeSH" title="MedGen record for Achromatopsia">Achromatopsia</a></span><ul><li><span class="TLline"><a href="/medgen/387867" ref="tree=MeSH" title="MedGen record for Achromatopsia 2">Achromatopsia 2</a></span></li><li><span class="TLline"><a href="/medgen/340413" ref="tree=MeSH" title="MedGen record for Achromatopsia 3">Achromatopsia 3</a></span></li><li><span class="TLline"><a href="/medgen/330669" ref="tree=MeSH" title="MedGen record for Achromatopsia 4">Achromatopsia 4</a></span></li><li><span class="TLline"><a href="/medgen/416519" ref="tree=MeSH" title="MedGen record for Achromatopsia 5">Achromatopsia 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868907" ref="tree=MeSH" title="MedGen record for Cone monochromacy">Cone monochromacy</a></span><ul><li><span class="TLline"><a href="/medgen/87386" ref="tree=MeSH" title="MedGen record for Cone monochromatism">Cone monochromatism</a></span></li></ul></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_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_501210"><div><strong>Jalili syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3495589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by Parry et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501210">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_501210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jalili syndrome</a></div></div>
|
||
</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/36932675">Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanna K,
|
||
Nieves J,
|
||
Dowd C,
|
||
Bender KO,
|
||
Sharma P,
|
||
Singh B,
|
||
Renz M,
|
||
Ver Hoeve JN,
|
||
Cepeda D,
|
||
Gelfman CM,
|
||
Riley BE,
|
||
Grishanin RN</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2023 Jul 5;31(7):2014-2027.
|
||
Epub 2023 Mar 16
|
||
doi: 10.1016/j.ymthe.2023.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36932675" target="_blank">36932675</a><a href="/pmc/articles/PMC10362383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25168334">Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gardner JC,
|
||
Liew G,
|
||
Quan YH,
|
||
Ermetal B,
|
||
Ueyama H,
|
||
Davidson AE,
|
||
Schwarz N,
|
||
Kanuga N,
|
||
Chana R,
|
||
Maher ER,
|
||
Webster AR,
|
||
Holder GE,
|
||
Robson AG,
|
||
Cheetham ME,
|
||
Liebelt J,
|
||
Ruddle JB,
|
||
Moore AT,
|
||
Michaelides M,
|
||
Hardcastle AJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Nov;35(11):1354-62.
|
||
doi: 10.1002/humu.22679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25168334" target="_blank">25168334</a><a href="/pmc/articles/PMC4285181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12187429">Clinical features of achromatopsia in Swedish patients with defined genotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eksandh L,
|
||
Kohl S,
|
||
Wissinger B</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2002 Jun;23(2):109-20.
|
||
doi: 10.1076/opge.23.2.109.2210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12187429" target="_blank">12187429</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22monochromacy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</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/38871951">S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Righetti G,
|
||
Kempf M,
|
||
Kohl S,
|
||
Wissinger B,
|
||
Kühlewein L,
|
||
Stingl K,
|
||
Stingl K</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2024 Aug;149(1):11-21.
|
||
Epub 2024 Jun 14
|
||
doi: 10.1007/s10633-024-09981-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38871951" target="_blank">38871951</a><a href="/pmc/articles/PMC11236933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36932675">Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanna K,
|
||
Nieves J,
|
||
Dowd C,
|
||
Bender KO,
|
||
Sharma P,
|
||
Singh B,
|
||
Renz M,
|
||
Ver Hoeve JN,
|
||
Cepeda D,
|
||
Gelfman CM,
|
||
Riley BE,
|
||
Grishanin RN</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2023 Jul 5;31(7):2014-2027.
|
||
Epub 2023 Mar 16
|
||
doi: 10.1016/j.ymthe.2023.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36932675" target="_blank">36932675</a><a href="/pmc/articles/PMC10362383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36692456">Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mascio AA,
|
||
Roman AJ,
|
||
Cideciyan AV,
|
||
Sheplock R,
|
||
Wu V,
|
||
Garafalo AV,
|
||
Sumaroka A,
|
||
Pirkle S,
|
||
Kohl S,
|
||
Wissinger B,
|
||
Jacobson SG,
|
||
Barbur JL</span><br />
|
||
<span class="medgenPMjournal">Transl Vis Sci Technol</span>
|
||
2023 Jan 3;12(1):25.
|
||
doi: 10.1167/tvst.12.1.25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36692456" target="_blank">36692456</a><a href="/pmc/articles/PMC9896867" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35704304">Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams KM,
|
||
Georgiou M,
|
||
Kalitzeos A,
|
||
Chow I,
|
||
Hysi PG,
|
||
Robson AG,
|
||
Lingham G,
|
||
Chen FK,
|
||
Mackey DA,
|
||
Webster AR,
|
||
Hammond CJ,
|
||
Prokhoda P,
|
||
Carroll J,
|
||
Michaelides M,
|
||
Mahroo OA</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2022 Jun 1;63(6):15.
|
||
doi: 10.1167/iovs.63.6.15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35704304" target="_blank">35704304</a><a href="/pmc/articles/PMC9206393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25168334">Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gardner JC,
|
||
Liew G,
|
||
Quan YH,
|
||
Ermetal B,
|
||
Ueyama H,
|
||
Davidson AE,
|
||
Schwarz N,
|
||
Kanuga N,
|
||
Chana R,
|
||
Maher ER,
|
||
Webster AR,
|
||
Holder GE,
|
||
Robson AG,
|
||
Cheetham ME,
|
||
Liebelt J,
|
||
Ruddle JB,
|
||
Moore AT,
|
||
Michaelides M,
|
||
Hardcastle AJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Nov;35(11):1354-62.
|
||
doi: 10.1002/humu.22679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25168334" target="_blank">25168334</a><a href="/pmc/articles/PMC4285181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Monochromacy%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39271608">Ocular genetics in the Japanese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hotta Y,
|
||
Torii K,
|
||
Takayama M</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2024 Sep;68(5):401-418.
|
||
Epub 2024 Sep 14
|
||
doi: 10.1007/s10384-024-01109-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39271608" target="_blank">39271608</a><a href="/pmc/articles/PMC11420330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32860923">The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Silva SR,
|
||
Arno G,
|
||
Robson AG,
|
||
Fakin A,
|
||
Pontikos N,
|
||
Mohamed MD,
|
||
Bird AC,
|
||
Moore AT,
|
||
Michaelides M,
|
||
Webster AR,
|
||
Mahroo OA</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2021 May;82:100898.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1016/j.preteyeres.2020.100898.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32860923" target="_blank">32860923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29934801">ISCEV extended protocol for the dark-adapted red flash ERG.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson DA,
|
||
Fujinami K,
|
||
Perlman I,
|
||
Hamilton R,
|
||
Robson AG</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2018 Jun;136(3):191-197.
|
||
Epub 2018 Jun 22
|
||
doi: 10.1007/s10633-018-9644-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29934801" target="_blank">29934801</a><a href="/pmc/articles/PMC6061112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12876837">Genetics of color vision deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeb SS,
|
||
Kohl S</span><br />
|
||
<span class="medgenPMjournal">Dev Ophthalmol</span>
|
||
2003;37:170-87.
|
||
doi: 10.1159/000072046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12876837" target="_blank">12876837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2788922">Molecular genetics of human blue cone monochromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nathans J,
|
||
Davenport CM,
|
||
Maumenee IH,
|
||
Lewis RA,
|
||
Hejtmancik JF,
|
||
Litt M,
|
||
Lovrien E,
|
||
Weleber R,
|
||
Bachynski B,
|
||
Zwas F</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
1989 Aug 25;245(4920):831-8.
|
||
doi: 10.1126/science.2788922.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2788922" target="_blank">2788922</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Monochromacy%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 (44)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36692456">Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mascio AA,
|
||
Roman AJ,
|
||
Cideciyan AV,
|
||
Sheplock R,
|
||
Wu V,
|
||
Garafalo AV,
|
||
Sumaroka A,
|
||
Pirkle S,
|
||
Kohl S,
|
||
Wissinger B,
|
||
Jacobson SG,
|
||
Barbur JL</span><br />
|
||
<span class="medgenPMjournal">Transl Vis Sci Technol</span>
|
||
2023 Jan 3;12(1):25.
|
||
doi: 10.1167/tvst.12.1.25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36692456" target="_blank">36692456</a><a href="/pmc/articles/PMC9896867" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33344057">Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Semenov EP,
|
||
Sheplock R,
|
||
Roman AJ,
|
||
McGuigan DB,
|
||
Swider M,
|
||
Cideciyan AV,
|
||
Jacobson SG</span><br />
|
||
<span class="medgenPMjournal">Transl Vis Sci Technol</span>
|
||
2020 Dec;9(13):13.
|
||
Epub 2020 Dec 8
|
||
doi: 10.1167/tvst.9.13.13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33344057" target="_blank">33344057</a><a href="/pmc/articles/PMC7726588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25909963">Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo X,
|
||
Cideciyan AV,
|
||
Iannaccone A,
|
||
Roman AJ,
|
||
Ditta LC,
|
||
Jennings BJ,
|
||
Yatsenko SA,
|
||
Sheplock R,
|
||
Sumaroka A,
|
||
Swider M,
|
||
Schwartz SB,
|
||
Wissinger B,
|
||
Kohl S,
|
||
Jacobson SG</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2015;10(4):e0125700.
|
||
Epub 2015 Apr 24
|
||
doi: 10.1371/journal.pone.0125700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25909963" target="_blank">25909963</a><a href="/pmc/articles/PMC4409040" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Monochromacy%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39271608">Ocular genetics in the Japanese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hotta Y,
|
||
Torii K,
|
||
Takayama M</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2024 Sep;68(5):401-418.
|
||
Epub 2024 Sep 14
|
||
doi: 10.1007/s10384-024-01109-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39271608" target="_blank">39271608</a><a href="/pmc/articles/PMC11420330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24067079">Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cideciyan AV,
|
||
Hufnagel RB,
|
||
Carroll J,
|
||
Sumaroka A,
|
||
Luo X,
|
||
Schwartz SB,
|
||
Dubra A,
|
||
Land M,
|
||
Michaelides M,
|
||
Gardner JC,
|
||
Hardcastle AJ,
|
||
Moore AT,
|
||
Sisk RA,
|
||
Ahmed ZM,
|
||
Kohl S,
|
||
Wissinger B,
|
||
Jacobson SG</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
2013 Dec;24(12):993-1006.
|
||
Epub 2013 Oct 30
|
||
doi: 10.1089/hum.2013.153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24067079" target="_blank">24067079</a><a href="/pmc/articles/PMC3868405" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19421413">Blue cone monochromacy: causative mutations and associated phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gardner JC,
|
||
Michaelides M,
|
||
Holder GE,
|
||
Kanuga N,
|
||
Webb TR,
|
||
Mollon JD,
|
||
Moore AT,
|
||
Hardcastle AJ</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2009;15:876-84.
|
||
Epub 2009 May 1
|
||
<span class="bold">PMID: </span><a href="/pubmed/19421413" target="_blank">19421413</a><a href="/pmc/articles/PMC2676201" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15312026">Molecular genetics of colour vision deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeb SS</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Optom</span>
|
||
2004 Jul;87(4-5):224-9.
|
||
doi: 10.1111/j.1444-0938.2004.tb05052.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15312026" target="_blank">15312026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8213841">Genetic heterogeneity among blue-cone monochromats.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nathans J,
|
||
Maumenee IH,
|
||
Zrenner E,
|
||
Sadowski B,
|
||
Sharpe LT,
|
||
Lewis RA,
|
||
Hansen E,
|
||
Rosenberg T,
|
||
Schwartz M,
|
||
Heckenlively JR</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1993 Nov;53(5):987-1000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8213841" target="_blank">8213841</a><a href="/pmc/articles/PMC1682301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Monochromacy%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35704304">Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams KM,
|
||
Georgiou M,
|
||
Kalitzeos A,
|
||
Chow I,
|
||
Hysi PG,
|
||
Robson AG,
|
||
Lingham G,
|
||
Chen FK,
|
||
Mackey DA,
|
||
Webster AR,
|
||
Hammond CJ,
|
||
Prokhoda P,
|
||
Carroll J,
|
||
Michaelides M,
|
||
Mahroo OA</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2022 Jun 1;63(6):15.
|
||
doi: 10.1167/iovs.63.6.15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35704304" target="_blank">35704304</a><a href="/pmc/articles/PMC9206393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27339364">De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buena-Atienza E,
|
||
Rüther K,
|
||
Baumann B,
|
||
Bergholz R,
|
||
Birch D,
|
||
De Baere E,
|
||
Dollfus H,
|
||
Greally MT,
|
||
Gustavsson P,
|
||
Hamel CP,
|
||
Heckenlively JR,
|
||
Leroy BP,
|
||
Plomp AS,
|
||
Pott JW,
|
||
Rose K,
|
||
Rosenberg T,
|
||
Stark Z,
|
||
Verheij JB,
|
||
Weleber R,
|
||
Zobor D,
|
||
Weisschuh N,
|
||
Kohl S,
|
||
Wissinger B</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Jun 24;6:28253.
|
||
doi: 10.1038/srep28253.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27339364" target="_blank">27339364</a><a href="/pmc/articles/PMC4919619" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24067079">Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cideciyan AV,
|
||
Hufnagel RB,
|
||
Carroll J,
|
||
Sumaroka A,
|
||
Luo X,
|
||
Schwartz SB,
|
||
Dubra A,
|
||
Land M,
|
||
Michaelides M,
|
||
Gardner JC,
|
||
Hardcastle AJ,
|
||
Moore AT,
|
||
Sisk RA,
|
||
Ahmed ZM,
|
||
Kohl S,
|
||
Wissinger B,
|
||
Jacobson SG</span><br />
|
||
<span class="medgenPMjournal">Hum Gene Ther</span>
|
||
2013 Dec;24(12):993-1006.
|
||
Epub 2013 Oct 30
|
||
doi: 10.1089/hum.2013.153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24067079" target="_blank">24067079</a><a href="/pmc/articles/PMC3868405" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15312026">Molecular genetics of colour vision deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeb SS</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Optom</span>
|
||
2004 Jul;87(4-5):224-9.
|
||
doi: 10.1111/j.1444-0938.2004.tb05052.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15312026" target="_blank">15312026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2788922">Molecular genetics of human blue cone monochromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nathans J,
|
||
Davenport CM,
|
||
Maumenee IH,
|
||
Lewis RA,
|
||
Hejtmancik JF,
|
||
Litt M,
|
||
Lovrien E,
|
||
Weleber R,
|
||
Bachynski B,
|
||
Zwas F</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
1989 Aug 25;245(4920):831-8.
|
||
doi: 10.1126/science.2788922.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2788922" target="_blank">2788922</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Monochromacy%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 (25)</a></div></div>
|
||
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|
||
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Monochromacy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22monochromacy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Monochromacy" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Monochromacy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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