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<title>Cone dystrophy 1, X-linked (Concept Id: C1844777)
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<!--
UID=336778
ConceptID=C1844777
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cone dystrophy 1, X-linked<span class="h1sub">(COD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336778</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1844777</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>COD1</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0800320" target="_blank">MONDO:0800320</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/304020" target="_blank">304020</a>; <a href="https://omim.org/entry/312610" target="_blank">312610</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_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/33472769">Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stingl K,
Kempf M,
Bartz-Schmidt KU,
Dimopoulos S,
Reichel F,
Jung R,
Kelbsch C,
Kohl S,
Kortüm FC,
Nasser F,
Peters T,
Wilhelm B,
Wissinger B,
Wozar F,
Zrenner E,
Fischer MD,
Stingl K</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2022 Jun;106(6):831-838.
Epub 2021 Jan 20
doi: 10.1136/bjophthalmol-2020-318286.
<span class="bold">PMID: </span><a href="/pubmed/33472769" target="_blank">33472769</a><a href="/pmc/articles/PMC9132865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24454928">Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
Yin X,
Feng L,
You D,
Wu L,
Chen N,
Li A,
Li G,
Ma Z</span><br />
<span class="medgenPMjournal">PLoS One</span>
2014;9(1):e85752.
Epub 2014 Jan 15
doi: 10.1371/journal.pone.0085752.
<span class="bold">PMID: </span><a href="/pubmed/24454928" target="_blank">24454928</a><a href="/pmc/articles/PMC3893273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1415215">Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deeb SS,
Lindsey DT,
Hibiya Y,
Sanocki E,
Winderickx J,
Teller DY,
Motulsky AG</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
1992 Oct;51(4):687-700.
<span class="bold">PMID: </span><a href="/pubmed/1415215" target="_blank">1415215</a><a href="/pmc/articles/PMC1682812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cone%20dystrophy%201%2C%20x-linked)%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 (3)</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/38254053">Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gudeta TB,
Asrat T</span><br />
<span class="medgenPMjournal">BMC Pediatr</span>
2024 Jan 22;24(1):72.
doi: 10.1186/s12887-024-04529-0.
<span class="bold">PMID: </span><a href="/pubmed/38254053" target="_blank">38254053</a><a href="/pmc/articles/PMC10801970" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36423731">RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
Robson AG,
Jovanovic K,
Guimarães TAC,
Ali N,
Pontikos N,
Uwaydat SH,
Mahroo OA,
Cheetham ME,
Webster AR,
Hardcastle AJ,
Michaelides M</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
2023 Apr;130(4):413-422.
Epub 2022 Nov 22
doi: 10.1016/j.ophtha.2022.11.015.
<span class="bold">PMID: </span><a href="/pubmed/36423731" target="_blank">36423731</a><a href="/pmc/articles/PMC10567581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30578485">Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).</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;1085:53-60.
doi: 10.1007/978-3-319-95046-4_12.
<span class="bold">PMID: </span><a href="/pubmed/30578485" target="_blank">30578485</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17270046">Cone rod dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamel CP</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
<span class="bold">PMID: </span><a href="/pubmed/17270046" target="_blank">17270046</a><a href="/pmc/articles/PMC1808442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5312341">Congenital adrenal hypoplasia--an X-linked disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss L,
Mellinger RC</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1970 Mar;7(1):27-32.
doi: 10.1136/jmg.7.1.27.
<span class="bold">PMID: </span><a href="/pubmed/5312341" target="_blank">5312341</a><a href="/pmc/articles/PMC1468897" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone%20dystrophy%201%2C%20X-linked%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 (42)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36423731">RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
Robson AG,
Jovanovic K,
Guimarães TAC,
Ali N,
Pontikos N,
Uwaydat SH,
Mahroo OA,
Cheetham ME,
Webster AR,
Hardcastle AJ,
Michaelides M</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
2023 Apr;130(4):413-422.
Epub 2022 Nov 22
doi: 10.1016/j.ophtha.2022.11.015.
<span class="bold">PMID: </span><a href="/pubmed/36423731" target="_blank">36423731</a><a href="/pmc/articles/PMC10567581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35260635">Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Falsini B,
Placidi G,
De Siena E,
Chiurazzi P,
Minnella AM,
Savastano MC,
Ziccardi L,
Parisi V,
Iarossi G,
Percio M,
Piteková B,
Marceddu G,
Maltese PE,
Bertelli M</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2022 Mar 8;12(1):3774.
doi: 10.1038/s41598-022-07618-1.
<span class="bold">PMID: </span><a href="/pubmed/35260635" target="_blank">35260635</a><a href="/pmc/articles/PMC8904500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29057663">Gene therapy for inherited retinal and optic nerve degenerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moore NA,
Morral N,
Ciulla TA,
Bracha P</span><br />
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
2018 Jan;18(1):37-49.
Epub 2017 Oct 23
doi: 10.1080/14712598.2018.1389886.
<span class="bold">PMID: </span><a href="/pubmed/29057663" target="_blank">29057663</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17270046">Cone rod dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamel CP</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
<span class="bold">PMID: </span><a href="/pubmed/17270046" target="_blank">17270046</a><a href="/pmc/articles/PMC1808442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17032466">Retinitis pigmentosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamel C</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
<span class="bold">PMID: </span><a href="/pubmed/17032466" target="_blank">17032466</a><a href="/pmc/articles/PMC1621055" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone%20dystrophy%201%2C%20X-linked%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 (65)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38254053">Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gudeta TB,
Asrat T</span><br />
<span class="medgenPMjournal">BMC Pediatr</span>
2024 Jan 22;24(1):72.
doi: 10.1186/s12887-024-04529-0.
<span class="bold">PMID: </span><a href="/pubmed/38254053" target="_blank">38254053</a><a href="/pmc/articles/PMC10801970" 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/32372497">Low-contrast visual acuity versus low-luminance visual acuity in choroideremia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wood LJ,
Jolly JK,
Andrews CD,
Wilson IR,
Hickey D,
Cehajic-Kapetanovic J,
Maclaren RE</span><br />
<span class="medgenPMjournal">Clin Exp Optom</span>
2021 Jan;104(1):90-94.
doi: 10.1111/cxo.13087.
<span class="bold">PMID: </span><a href="/pubmed/32372497" target="_blank">32372497</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29057663">Gene therapy for inherited retinal and optic nerve degenerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moore NA,
Morral N,
Ciulla TA,
Bracha P</span><br />
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
2018 Jan;18(1):37-49.
Epub 2017 Oct 23
doi: 10.1080/14712598.2018.1389886.
<span class="bold">PMID: </span><a href="/pubmed/29057663" target="_blank">29057663</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25324231">Clinical characteristics and current therapies for inherited retinal degenerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sahel JA,
Marazova K,
Audo I</span><br />
<span class="medgenPMjournal">Cold Spring Harb Perspect Med</span>
2014 Oct 16;5(2):a017111.
doi: 10.1101/cshperspect.a017111.
<span class="bold">PMID: </span><a href="/pubmed/25324231" target="_blank">25324231</a><a href="/pmc/articles/PMC4315917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone%20dystrophy%201%2C%20X-linked%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37544434">Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
<span class="bold">PMID: </span><a href="/pubmed/37544434" target="_blank">37544434</a><a href="/pmc/articles/PMC10937259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36423731">RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
Robson AG,
Jovanovic K,
Guimarães TAC,
Ali N,
Pontikos N,
Uwaydat SH,
Mahroo OA,
Cheetham ME,
Webster AR,
Hardcastle AJ,
Michaelides M</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
2023 Apr;130(4):413-422.
Epub 2022 Nov 22
doi: 10.1016/j.ophtha.2022.11.015.
<span class="bold">PMID: </span><a href="/pubmed/36423731" target="_blank">36423731</a><a href="/pmc/articles/PMC10567581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32874040">Electronegative Electroretinograms in the United Arab Emirates.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alsalamah AK,
Khan AO</span><br />
<span class="medgenPMjournal">Middle East Afr J Ophthalmol</span>
2020 Apr-Jun;27(2):86-90.
Epub 2020 Jul 20
doi: 10.4103/meajo.MEAJO_106_20.
<span class="bold">PMID: </span><a href="/pubmed/32874040" target="_blank">32874040</a><a href="/pmc/articles/PMC7442078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17270046">Cone rod dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamel CP</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 Feb 1;2:7.
doi: 10.1186/1750-1172-2-7.
<span class="bold">PMID: </span><a href="/pubmed/17270046" target="_blank">17270046</a><a href="/pmc/articles/PMC1808442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17032466">Retinitis pigmentosa.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamel C</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2006 Oct 11;1:40.
doi: 10.1186/1750-1172-1-40.
<span class="bold">PMID: </span><a href="/pubmed/17032466" target="_blank">17032466</a><a href="/pmc/articles/PMC1621055" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone%20dystrophy%201%2C%20X-linked%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37544434">Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Daich Varela M,
Conti GM,
Malka S,
Vaclavik V,
Mahroo OA,
Webster AR,
Tran V,
Michaelides M</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
2023 Dec;130(12):1327-1335.
Epub 2023 Aug 5
doi: 10.1016/j.ophtha.2023.07.027.
<span class="bold">PMID: </span><a href="/pubmed/37544434" target="_blank">37544434</a><a href="/pmc/articles/PMC10937259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36423731">RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
Robson AG,
Jovanovic K,
Guimarães TAC,
Ali N,
Pontikos N,
Uwaydat SH,
Mahroo OA,
Cheetham ME,
Webster AR,
Hardcastle AJ,
Michaelides M</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
2023 Apr;130(4):413-422.
Epub 2022 Nov 22
doi: 10.1016/j.ophtha.2022.11.015.
<span class="bold">PMID: </span><a href="/pubmed/36423731" target="_blank">36423731</a><a href="/pmc/articles/PMC10567581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35743313">Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stingl K,
Baumann B,
De Angeli P,
Vincent A,
Héon E,
Cordonnier M,
De Baere E,
Raskin S,
Sato MT,
Shiokawa N,
Kohl S,
Wissinger B</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Jun 20;23(12)
doi: 10.3390/ijms23126868.
<span class="bold">PMID: </span><a href="/pubmed/35743313" target="_blank">35743313</a><a href="/pmc/articles/PMC9224739" 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/30128495">Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson EJ,
Kalitzeos A,
Kasilian M,
Gardner JC,
Neitz J,
Hardcastle AJ,
Neitz M,
Carroll J,
Michaelides M</span><br />
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
2018 Aug 1;59(10):4238-4248.
doi: 10.1167/iovs.18-24699.
<span class="bold">PMID: </span><a href="/pubmed/30128495" target="_blank">30128495</a><a href="/pmc/articles/PMC6103386" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone%20dystrophy%201%2C%20X-linked%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 (38)</a></div></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=(cone%20dystrophy%201%2C%20x-linked)%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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