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<meta name="keywords" content="C5436588, disease or syndrome, idh3a, retinitis pigmentosa 90, rp90, 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="Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1733837
|
||
ConceptID=C5436588
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa 90<span class="h1sub">(RP90)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1733837</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:">C5436588</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>RETINITIS PIGMENTOSA 90; RP90</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="IDH3A - ID: 3419 - NCBI Gene" href="/gene/3419" class="medgenPMinfo">IDH3A</a> (15q25.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033563" target="_blank">MONDO:0033563</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619007" target="_blank">619007</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>
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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">Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7435"><div><strong>Cystoid macular edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7435</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.">C0024440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7435">Feature record</a> | <a href="/medgen?term=%22Cystoid%20macular%20edema%22%5BClinical%20Features%5D%20OR%207435%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10349"><div><strong>Night blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10349</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.">C0028077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to see well at night or in poor light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10349">Feature record</a> | <a href="/medgen?term=%22Night%20blindness%22%5BClinical%20Features%5D%20OR%2010349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68613"><div><strong>Constriction of peripheral visual field</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68613</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.">C0235095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68613">Feature record</a> | <a href="/medgen?term=%22Constriction%20of%20peripheral%20visual%20field%22%5BClinical%20Features%5D%20OR%2068613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323029"><div><strong>Bone spicule pigmentation of the retina</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323029</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.">C1836926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323029">Feature record</a> | <a href="/medgen?term=%22Bone%20spicule%20pigmentation%20of%20the%20retina%22%5BClinical%20Features%5D%20OR%20323029%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333564"><div><strong>Retinal pigment epithelial atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333564</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.">C1840457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333564">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20atrophy%22%5BClinical%20Features%5D%20OR%20333564%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480605"><div><strong>Attenuation of retinal blood vessels</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480605</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.">C3278975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480605">Feature record</a> | <a href="/medgen?term=%22Attenuation%20of%20retinal%20blood%20vessels%22%5BClinical%20Features%5D%20OR%20480605%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368849"><div><strong>Hyperautofluorescent retinal lesion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368849</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.">C4476623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368849">Feature record</a> | <a href="/medgen?term=%22Hyperautofluorescent%20retinal%20lesion%22%5BClinical%20Features%5D%20OR%201368849%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attenuation of retinal blood vessels</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone spicule pigmentation of the retina</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constriction of peripheral visual field</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystoid macular edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperautofluorescent retinal lesion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Night blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li></ul></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/38070066">Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsutsui S,
|
||
Murakami Y,
|
||
Fujiwara K,
|
||
Koyanagi Y,
|
||
Akiyama M,
|
||
Takeda A,
|
||
Ikeda Y,
|
||
Sonoda KH</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2024 Jan;68(1):1-11.
|
||
Epub 2023 Dec 9
|
||
doi: 10.1007/s10384-023-01036-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38070066" target="_blank">38070066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33348949">Erectile disfunction medical treatment with phosphodiesterase 5 inhibitors (PDE5i) in patients with retinitis pigmentosa and side effects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cocci A,
|
||
Romano A,
|
||
Morelli G,
|
||
Frediani D,
|
||
Sodi A,
|
||
Russo GI</span><br />
|
||
<span class="medgenPMjournal">Arch Ital Urol Androl</span>
|
||
2020 Dec 18;92(4)
|
||
doi: 10.4081/aiua.2020.4.326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33348949" target="_blank">33348949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26344734">MRI of rod cell compartment-specific function in disease and treatment in vivo.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berkowitz BA,
|
||
Bissig D,
|
||
Roberts R</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2016 Mar;51:90-106.
|
||
Epub 2015 Sep 4
|
||
doi: 10.1016/j.preteyeres.2015.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26344734" target="_blank">26344734</a><a href="/pmc/articles/PMC8091657" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinitis%20pigmentosa%2090)%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 (14)</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/35791117">Genetic dissection of non-syndromic retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhardwaj A,
|
||
Yadav A,
|
||
Yadav M,
|
||
Tanwar M</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2355-2385.
|
||
doi: 10.4103/ijo.IJO_46_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791117" target="_blank">35791117</a><a href="/pmc/articles/PMC9426071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32675063">USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu T,
|
||
Chen DF,
|
||
Wang L,
|
||
Wu S,
|
||
Wei X,
|
||
Li H,
|
||
Jin ZB,
|
||
Sui R</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2021 May;105(5):694-703.
|
||
Epub 2020 Jul 16
|
||
doi: 10.1136/bjophthalmol-2019-315786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32675063" target="_blank">32675063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26853529">Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose AM,
|
||
Bhattacharya SS</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2016 Aug;90(2):118-26.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1111/cge.12758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26853529" target="_blank">26853529</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26338283">Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang L,
|
||
Liang X,
|
||
Li Y,
|
||
Wang J,
|
||
Zaneveld JE,
|
||
Wang H,
|
||
Xu S,
|
||
Wang K,
|
||
Wang B,
|
||
Chen R,
|
||
Sui R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Sep 4;10:110.
|
||
doi: 10.1186/s13023-015-0329-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26338283" target="_blank">26338283</a><a href="/pmc/articles/PMC4559966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15495266">Cilia-related diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Afzelius BA</span><br />
|
||
<span class="medgenPMjournal">J Pathol</span>
|
||
2004 Nov;204(4):470-7.
|
||
doi: 10.1002/path.1652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15495266" target="_blank">15495266</a><a href="/pmc/articles/PMC7167937" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2090%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 (102)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35503220">Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dong L,
|
||
He W,
|
||
Zhang R,
|
||
Ge Z,
|
||
Wang YX,
|
||
Zhou J,
|
||
Xu J,
|
||
Shao L,
|
||
Wang Q,
|
||
Yan Y,
|
||
Xie Y,
|
||
Fang L,
|
||
Wang H,
|
||
Wang Y,
|
||
Zhu X,
|
||
Wang J,
|
||
Zhang C,
|
||
Wang H,
|
||
Wang Y,
|
||
Chen R,
|
||
Wan Q,
|
||
Yang J,
|
||
Zhou W,
|
||
Li H,
|
||
Yao X,
|
||
Yang Z,
|
||
Xiong J,
|
||
Wang X,
|
||
Huang Y,
|
||
Chen Y,
|
||
Wang Z,
|
||
Rong C,
|
||
Gao J,
|
||
Zhang H,
|
||
Wu S,
|
||
Jonas JB,
|
||
Wei WB</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2022 May 2;5(5):e229960.
|
||
doi: 10.1001/jamanetworkopen.2022.9960.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35503220" target="_blank">35503220</a><a href="/pmc/articles/PMC9066285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26762677">Genetics of human Bardet-Biedl syndrome, an updates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan SA,
|
||
Muhammad N,
|
||
Khan MA,
|
||
Kamal A,
|
||
Rehman ZU,
|
||
Khan S</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2016 Jul;90(1):3-15.
|
||
Epub 2016 Feb 9
|
||
doi: 10.1111/cge.12737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26762677" target="_blank">26762677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26338283">Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang L,
|
||
Liang X,
|
||
Li Y,
|
||
Wang J,
|
||
Zaneveld JE,
|
||
Wang H,
|
||
Xu S,
|
||
Wang K,
|
||
Wang B,
|
||
Chen R,
|
||
Sui R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Sep 4;10:110.
|
||
doi: 10.1186/s13023-015-0329-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26338283" target="_blank">26338283</a><a href="/pmc/articles/PMC4559966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4714794">Unilateral retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carr RE,
|
||
Siegel IM</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1973 Jul;90(1):21-6.
|
||
doi: 10.1001/archopht.1973.01000050023005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4714794" target="_blank">4714794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4104195">Refsum's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy IS</span><br />
|
||
<span class="medgenPMjournal">Trans Ophthalmol Soc U K (1962)</span>
|
||
1970;90:181-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4104195" target="_blank">4104195</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2090%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 (99)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29259518">Genome Surgery and Gene Therapy in Retinal Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan L,
|
||
Mahajan VB,
|
||
Tsang SH</span><br />
|
||
<span class="medgenPMjournal">Yale J Biol Med</span>
|
||
2017 Dec;90(4):523-532.
|
||
Epub 2017 Dec 19
|
||
<span class="bold">PMID: </span><a href="/pubmed/29259518" target="_blank">29259518</a><a href="/pmc/articles/PMC5733860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26427407">Hsp90 as a Potential Therapeutic Target in Retinal Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilà M,
|
||
Cheetham ME</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2016;854:161-7.
|
||
doi: 10.1007/978-3-319-17121-0_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26427407" target="_blank">26427407</a><a href="/pmc/articles/PMC5044979" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20817636">Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tam LC,
|
||
Kiang AS,
|
||
Campbell M,
|
||
Keaney J,
|
||
Farrar GJ,
|
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<div class="nl"><a target="_blank" href="/pubmed/16707518">Light and inherited retinal degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paskowitz DM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2090%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 (34)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35791117">Genetic dissection of non-syndromic retinitis pigmentosa.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
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Lee HS,
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Kim K,
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Choi S,
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Jang I,
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<div class="nl"><a target="_blank" href="/pubmed/26338283">Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang L,
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Liang X,
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Li Y,
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Wang J,
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<div class="nl"><a target="_blank" href="/pubmed/4714794">Unilateral retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carr RE,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2090%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 (51)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38070066">Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.</a></div>
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Murakami Y,
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<span class="bold">PMID: </span><a href="/pubmed/38070066" target="_blank">38070066</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35503220">Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dong L,
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He W,
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Zhang R,
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Ge Z,
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Xu J,
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Shao L,
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Yan Y,
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Zhu X,
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Zhang C,
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Wang H,
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Wang Y,
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Chen R,
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Wan Q,
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Yang J,
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Zhou W,
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Li H,
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Yao X,
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Yang Z,
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Xiong J,
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Wang X,
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Huang Y,
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Chen Y,
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Wang Z,
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Rong C,
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Gao J,
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Zhang H,
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Wu S,
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Jonas JB,
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<span class="bold">PMID: </span><a href="/pubmed/35503220" target="_blank">35503220</a><a href="/pmc/articles/PMC9066285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
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Lee HS,
|
||
Kim K,
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Choi S,
|
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Jang I,
|
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Cho SH,
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Yoon CK,
|
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Lee EK,
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Yu HG</span><br />
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<span class="medgenPMjournal">BMC Med Genomics</span>
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2021 Mar 10;14(1):74.
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doi: 10.1186/s12920-021-00874-6.
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<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26853529">Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rose AM,
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Bhattacharya SS</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2016 Aug;90(2):118-26.
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<span class="bold">PMID: </span><a href="/pubmed/26853529" target="_blank">26853529</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26338283">Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang L,
|
||
Liang X,
|
||
Li Y,
|
||
Wang J,
|
||
Zaneveld JE,
|
||
Wang H,
|
||
Xu S,
|
||
Wang K,
|
||
Wang B,
|
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Chen R,
|
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Sui R</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2015 Sep 4;10:110.
|
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doi: 10.1186/s13023-015-0329-3.
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<span class="bold">PMID: </span><a href="/pubmed/26338283" target="_blank">26338283</a><a href="/pmc/articles/PMC4559966" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2090%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 (88)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39278389">Prevalence Estimates and Genetic Diversity for Autosomal Dominant Retinitis Pigmentosa Due to RHO, c.68C>A (p.P23H) Variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leenders M,
|
||
Gaastra M,
|
||
Jayagopal A,
|
||
Malone KE</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Dec;268:340-347.
|
||
Epub 2024 Sep 14
|
||
doi: 10.1016/j.ajo.2024.08.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39278389" target="_blank">39278389</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2090%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="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5436588%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C5436588%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5436588%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619007" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Retinitis%20pigmentosa%2090" 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=(retinitis%20pigmentosa%2090)%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="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601149" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3419[geneid]" target="_blank">View IDH3A variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619007" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/retinitis_pigmentosa_90" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Retinitis%20pigmentosa%2090" target="_blank">MedlinePlus</a></li></ul></div>
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