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<meta name="keywords" content="C3151059, cnga1, cnga1 retinitis pigmentosa, disease or syndrome, retinitis pigmentosa 49, retinitis pigmentosa caused by mutation in cnga1, retinitis pigmentosa type 49, rp49, 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-49 (RP49) is characterized by onset of night blindness in childhood, followed by progressive loss of visual fields and reduced visual acuity. Typical fundus features are present, including pale optic disc, attenuated vasculature, and pigment deposits in the midperiphery (Zhang et al., 2004; Katagiri et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=462409
|
||
ConceptID=C3151059
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa 49<span class="h1sub">(RP49)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462409</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:">C3151059</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>RP49</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="CNGA1 - ID: 1259 - NCBI Gene" href="/gene/1259" class="medgenPMinfo">CNGA1</a> (4p12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013405" target="_blank">MONDO:0013405</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613756" target="_blank">613756</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_100">
|
||
<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-49 (RP49) is characterized by onset of night blindness in childhood, followed by progressive loss of visual fields and reduced visual acuity. Typical fundus features are present, including pale optic disc, attenuated vasculature, and pigment deposits in the midperiphery (Zhang et al., 2004; Katagiri et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_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_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_116124"><div><strong>Peripheral visual field loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116124</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.">C0241688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116124">Feature record</a> | <a href="/medgen?term=%22Peripheral%20visual%20field%20loss%22%5BClinical%20Features%5D%20OR%20116124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108218"><div><strong>Optic disc pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108218</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.">C0554970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108218">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20pallor%22%5BClinical%20Features%5D%20OR%20108218%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_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_1632921"><div><strong>Rod-cone dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632921</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.">C4551714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632921">Feature record</a> | <a href="/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%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_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_108218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc pallor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral visual field loss</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_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</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/36239612">Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bottazzi L,
|
||
Antropoli A,
|
||
Bianco L,
|
||
Andrao A,
|
||
Galimberti G,
|
||
Mascetti S,
|
||
Arrigo A,
|
||
Saladino A,
|
||
Bandello F,
|
||
Parodi MB</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Feb;44(1):49-53.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1080/13816810.2022.2135111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36239612" target="_blank">36239612</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33528094">Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Talib M,
|
||
van Schooneveld MJ,
|
||
Wijnholds J,
|
||
van Genderen MM,
|
||
Schalij-Delfos NE,
|
||
Talsma HE,
|
||
Florijn RJ,
|
||
Ten Brink JB,
|
||
Cremers FPM,
|
||
Thiadens AAHJ,
|
||
van den Born LI,
|
||
Hoyng CB,
|
||
Meester-Smoor MA,
|
||
Bergen AA,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2021 May;99(3):e402-e414.
|
||
Epub 2021 Feb 2
|
||
doi: 10.1111/aos.14597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33528094" target="_blank">33528094</a><a href="/pmc/articles/PMC8248330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30977268">Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
Gliem M,
|
||
Oishi A,
|
||
Müller PL,
|
||
Herrmann P,
|
||
Holz FG,
|
||
Mangold E,
|
||
Knapp M,
|
||
Bolz HJ,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2019 Aug;47(6):779-786.
|
||
Epub 2019 May 8
|
||
doi: 10.1111/ceo.13516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30977268" target="_blank">30977268</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinitis%20pigmentosa%2049)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34060618">The role of splicing factors in retinitis pigmentosa: links to cilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maxwell DW,
|
||
O'Keefe RT,
|
||
Roy S,
|
||
Hentges KE</span><br />
|
||
<span class="medgenPMjournal">Biochem Soc Trans</span>
|
||
2021 Jun 30;49(3):1221-1231.
|
||
doi: 10.1042/BST20200798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34060618" target="_blank">34060618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34021959">Retinal prostheses: Where to from here?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allen PJ</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2021 Jul;49(5):418-429.
|
||
Epub 2021 Jun 17
|
||
doi: 10.1111/ceo.13950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34021959" target="_blank">34021959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33686777">Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
|
||
Fujinami K,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2021 Apr;49(3):270-288.
|
||
Epub 2021 Mar 20
|
||
doi: 10.1111/ceo.13917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33686777" target="_blank">33686777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27245600">Renal transplantation in Bardet-Biedl Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haws RM,
|
||
Joshi A,
|
||
Shah SA,
|
||
Alkandari O,
|
||
Turman MA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2016 Nov;31(11):2153-61.
|
||
Epub 2016 Jun 1
|
||
doi: 10.1007/s00467-016-3415-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27245600" target="_blank">27245600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22135276">Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Quesne Stabej P,
|
||
Saihan Z,
|
||
Rangesh N,
|
||
Steele-Stallard HB,
|
||
Ambrose J,
|
||
Coffey A,
|
||
Emmerson J,
|
||
Haralambous E,
|
||
Hughes Y,
|
||
Steel KP,
|
||
Luxon LM,
|
||
Webster AR,
|
||
Bitner-Glindzicz M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2012 Jan;49(1):27-36.
|
||
Epub 2011 Dec 1
|
||
doi: 10.1136/jmedgenet-2011-100468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22135276" target="_blank">22135276</a><a href="/pmc/articles/PMC3678402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2049%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 (117)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36785559">Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reurink J,
|
||
Weisschuh N,
|
||
Garanto A,
|
||
Dockery A,
|
||
van den Born LI,
|
||
Fajardy I,
|
||
Haer-Wigman L,
|
||
Kohl S,
|
||
Wissinger B,
|
||
Farrar GJ,
|
||
Ben-Yosef T,
|
||
Pfiffner FK,
|
||
Berger W,
|
||
Weener ME,
|
||
Dudakova L,
|
||
Liskova P,
|
||
Sharon D,
|
||
Salameh M,
|
||
Offenheim A,
|
||
Heon E,
|
||
Girotto G,
|
||
Gasparini P,
|
||
Morgan A,
|
||
Bergen AA,
|
||
Ten Brink JB,
|
||
Klaver CCW,
|
||
Tranebjærg L,
|
||
Rendtorff ND,
|
||
Vermeer S,
|
||
Smits JJ,
|
||
Pennings RJE,
|
||
Aben M,
|
||
Oostrik J,
|
||
Astuti GDN,
|
||
Corominas Galbany J,
|
||
Kroes HY,
|
||
Phan M,
|
||
van Zelst-Stams WAG,
|
||
Thiadens AAHJ,
|
||
Verheij JBGM,
|
||
van Schooneveld MJ,
|
||
de Bruijn SE,
|
||
Li CHZ,
|
||
Hoyng CB,
|
||
Gilissen C,
|
||
Vissers LELM,
|
||
Cremers FPM,
|
||
Kremer H,
|
||
van Wijk E,
|
||
Roosing S</span><br />
|
||
<span class="medgenPMjournal">HGG Adv</span>
|
||
2023 Apr 13;4(2):100181.
|
||
Epub 2023 Jan 18
|
||
doi: 10.1016/j.xhgg.2023.100181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36785559" target="_blank">36785559</a><a href="/pmc/articles/PMC9918427" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36730350">Cataract surgery in patients with retinitis pigmentosa: systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khojasteh H,
|
||
Riazi-Esfahani H,
|
||
Mirghorbani M,
|
||
Khalili Pour E,
|
||
Mahmoudi A,
|
||
Mahdizad Z,
|
||
Akhavanrezayat A,
|
||
Ghoraba H,
|
||
Do DV,
|
||
Nguyen QD</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Mar 1;49(3):312-320.
|
||
Epub 2022 Nov 21
|
||
doi: 10.1097/j.jcrs.0000000000001101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36730350" target="_blank">36730350</a><a href="/pmc/articles/PMC9981325" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33686777">Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
|
||
Fujinami K,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2021 Apr;49(3):270-288.
|
||
Epub 2021 Mar 20
|
||
doi: 10.1111/ceo.13917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33686777" target="_blank">33686777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30907134">A light in the dark: state of the art and perspectives in optogenetics and optopharmacology for restoring vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chemi G,
|
||
Brindisi M,
|
||
Brogi S,
|
||
Relitti N,
|
||
Butini S,
|
||
Gemma S,
|
||
Campiani G</span><br />
|
||
<span class="medgenPMjournal">Future Med Chem</span>
|
||
2019 Mar;11(5):463-487.
|
||
Epub 2019 Mar 25
|
||
doi: 10.4155/fmc-2018-0315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30907134" target="_blank">30907134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19584620">Mitochondrial disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edmond JC</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
2009 Summer;49(3):27-33.
|
||
doi: 10.1097/IIO.0b013e3181a8de58.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19584620" target="_blank">19584620</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2049%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 (113)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37798796">Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen X,
|
||
Xu N,
|
||
Li J,
|
||
Zhao M,
|
||
Huang L</span><br />
|
||
<span class="medgenPMjournal">Stem Cell Res Ther</span>
|
||
2023 Oct 5;14(1):286.
|
||
doi: 10.1186/s13287-023-03526-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37798796" target="_blank">37798796</a><a href="/pmc/articles/PMC10557171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30907134">A light in the dark: state of the art and perspectives in optogenetics and optopharmacology for restoring vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chemi G,
|
||
Brindisi M,
|
||
Brogi S,
|
||
Relitti N,
|
||
Butini S,
|
||
Gemma S,
|
||
Campiani G</span><br />
|
||
<span class="medgenPMjournal">Future Med Chem</span>
|
||
2019 Mar;11(5):463-487.
|
||
Epub 2019 Mar 25
|
||
doi: 10.4155/fmc-2018-0315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30907134" target="_blank">30907134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27835711">One-Year Outcome of 49-Channel Suprachoroidal-Transretinal Stimulation Prosthesis in Patients With Advanced Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujikado T,
|
||
Kamei M,
|
||
Sakaguchi H,
|
||
Kanda H,
|
||
Endo T,
|
||
Hirota M,
|
||
Morimoto T,
|
||
Nishida K,
|
||
Kishima H,
|
||
Terasawa Y,
|
||
Oosawa K,
|
||
Ozawa M,
|
||
Nishida K</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2016 Nov 1;57(14):6147-6157.
|
||
doi: 10.1167/iovs.16-20367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27835711" target="_blank">27835711</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/27245600">Renal transplantation in Bardet-Biedl Syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Haws RM,
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Joshi A,
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<span class="bold">PMID: </span><a href="/pubmed/27245600" target="_blank">27245600</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/8845718">The influence of Coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre Syndrome and hypoparathyroidism.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Papadimitriou A,
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Hadjigeorgiou GM,
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<div class="nl"><a target="_blank" href="/pubmed/36424096">Challenges of cell therapies for retinal diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Christelle M,
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Lise M,
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<span class="bold">PMID: </span><a href="/pubmed/36424096" target="_blank">36424096</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34146021">Cataract surgery in retinitis pigmentosa.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee S,
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Agrawal D,
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Agrawal D,
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Parchand SM,
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Sahu A</span><br />
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<span class="medgenPMjournal">Indian J Ophthalmol</span>
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2021 Jul;69(7):1753-1757.
|
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doi: 10.4103/ijo.IJO_2916_20.
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<span class="bold">PMID: </span><a href="/pubmed/34146021" target="_blank">34146021</a><a href="/pmc/articles/PMC8374763" 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/27245600">Renal transplantation in Bardet-Biedl Syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Haws RM,
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Joshi A,
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Shah SA,
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Alkandari O,
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Turman MA</span><br />
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<span class="medgenPMjournal">Pediatr Nephrol</span>
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2016 Nov;31(11):2153-61.
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Epub 2016 Jun 1
|
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doi: 10.1007/s00467-016-3415-4.
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<span class="bold">PMID: </span><a href="/pubmed/27245600" target="_blank">27245600</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>
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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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Zaneveld JE,
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Wang H,
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Xu S,
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Wang K,
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Wang B,
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2015 Sep 4;10:110.
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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>
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<div class="nl"><a target="_blank" href="/pubmed/2420940">Neonatal adrenoleukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aubourg P,
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Scotto J,
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Rocchiccioli F,
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1986 Jan;49(1):77-86.
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<span class="bold">PMID: </span><a href="/pubmed/2420940" target="_blank">2420940</a><a href="/pmc/articles/PMC1028652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2049%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 (56)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34146021">Cataract surgery in retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee S,
|
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Agrawal D,
|
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Agrawal D,
|
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Parchand SM,
|
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Sahu A</span><br />
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<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
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2021 Jul;69(7):1753-1757.
|
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doi: 10.4103/ijo.IJO_2916_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34146021" target="_blank">34146021</a><a href="/pmc/articles/PMC8374763" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/26959129">Course of Ocular Function in PRPF31 Retinitis Pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hafler BP,
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Comander J,
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Weigel DiFranco C,
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Place EM,
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Pierce EA</span><br />
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<span class="medgenPMjournal">Semin Ophthalmol</span>
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<span class="bold">PMID: </span><a href="/pubmed/26959129" target="_blank">26959129</a><a href="/pmc/articles/PMC6377939" target="_blank" class="PubMedFree">Free PMC Article</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>
|
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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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Zaneveld JE,
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Wang H,
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Xu S,
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Wang K,
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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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<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>
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<div class="nl"><a target="_blank" href="/pubmed/22135276">Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.</a></div>
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Saihan Z,
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Rangesh N,
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Steele-Stallard HB,
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Ambrose J,
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Coffey A,
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Emmerson J,
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Haralambous E,
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Hughes Y,
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Steel KP,
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Luxon LM,
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<span class="medgenPMjournal">J Med Genet</span>
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2012 Jan;49(1):27-36.
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<span class="bold">PMID: </span><a href="/pubmed/22135276" target="_blank">22135276</a><a href="/pmc/articles/PMC3678402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/21989720">Disease course of patients with unilateral pigmentary retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Potsidis E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2049%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (72)</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37798796">Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen X,
|
||
Xu N,
|
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Li J,
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Zhao M,
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<span class="medgenPMjournal">Stem Cell Res Ther</span>
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2023 Oct 5;14(1):286.
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||
doi: 10.1186/s13287-023-03526-x.
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||
<span class="bold">PMID: </span><a href="/pubmed/37798796" target="_blank">37798796</a><a href="/pmc/articles/PMC10557171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36856324">Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee BJH,
|
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Tham YC,
|
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Tan TE,
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Bylstra Y,
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Lim WK,
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Jain K,
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Chan CM,
|
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Mathur R,
|
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Cheung CMG,
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<span class="medgenPMjournal">Ophthalmic Genet</span>
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2023 Apr;44(2):109-118.
|
||
Epub 2023 Mar 1
|
||
doi: 10.1080/13816810.2023.2182329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36856324" target="_blank">36856324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36730350">Cataract surgery in patients with retinitis pigmentosa: systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khojasteh H,
|
||
Riazi-Esfahani H,
|
||
Mirghorbani M,
|
||
Khalili Pour E,
|
||
Mahmoudi A,
|
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Mahdizad Z,
|
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Akhavanrezayat A,
|
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Ghoraba H,
|
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Do DV,
|
||
Nguyen QD</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2023 Mar 1;49(3):312-320.
|
||
Epub 2022 Nov 21
|
||
doi: 10.1097/j.jcrs.0000000000001101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36730350" target="_blank">36730350</a><a href="/pmc/articles/PMC9981325" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2049%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 (3)</a></div></div>
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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=C3151059%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151059%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151059%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151059%5bDISCUI%5d" target="_blank">See all (19)</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=613756" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Retinitis%20pigmentosa%2049" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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