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<meta name="keywords" content="C0035334, aipl1, arl6, cfap418, clrn1, cnga1, crx, disease or syndrome, lrat, pde6g, pigmentary retinopathies, pigmentary retinopathy, rbp3, retinitis pigmentosa, retinopathies, pigmentary, retinopathy, pigmentary, rod-cone dystrophy, rom1, rp, rp - retinitis pigmentosa, tapetoretinal degeneration, tapetoretinal degenerations, 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 (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=20551
|
||
ConceptID=C0035334
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa<span class="h1sub">(RP)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20551</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:">C0035334</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>RP; Tapetoretinal degeneration</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>RP - Retinitis pigmentosa (28835009); Retinitis pigmentosa (28835009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_165802"><div><strong>Mitochondrial inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>165802</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.">C0887941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_165802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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">Genes (locations):<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="AIPL1 - ID: 23746 - NCBI Gene" href="/gene/23746" class="medgenPMinfo">AIPL1</a> (17p13.2); <a target="_blank" title="ARL6 - ID: 84100 - NCBI Gene" href="/gene/84100" class="medgenPMinfo">ARL6</a> (3q11.2); <a target="_blank" title="CFAP418 - ID: 157657 - NCBI Gene" href="/gene/157657" class="medgenPMinfo">CFAP418</a> (8q22.1); <a target="_blank" title="CLRN1 - ID: 7401 - NCBI Gene" href="/gene/7401" class="medgenPMinfo">CLRN1</a> (3q25.1); <a target="_blank" title="CNGA1 - ID: 1259 - NCBI Gene" href="/gene/1259" class="medgenPMinfo">CNGA1</a> (4p12); <a target="_blank" title="CRX - ID: 1406 - NCBI Gene" href="/gene/1406" class="medgenPMinfo">CRX</a> (19q13.33); <a target="_blank" title="LRAT - ID: 9227 - NCBI Gene" href="/gene/9227" class="medgenPMinfo">LRAT</a> (4q32.1); <a target="_blank" title="PDE6G - ID: 5148 - NCBI Gene" href="/gene/5148" class="medgenPMinfo">PDE6G</a> (17q25.3); <a target="_blank" title="RBP3 - ID: 5949 - NCBI Gene" href="/gene/5949" class="medgenPMinfo">RBP3</a> (10q11.22); <a target="_blank" title="ROM1 - ID: 6094 - NCBI Gene" href="/gene/6094" class="medgenPMinfo">ROM1</a> (11q12.3)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/768206">PRCD</a>, <a target="_blank" href="/gene/388939">PCARE</a>, <a target="_blank" href="/gene/375298">CERKL</a>, <a target="_blank" href="/gene/346007">EYS</a>, <a target="_blank" href="/gene/145226">RDH12</a>, <a target="_blank" href="/gene/130557">ZNF513</a>, <a target="_blank" href="/gene/123016">TTC8</a>, <a target="_blank" href="/gene/84140">FAM161A</a>, <a target="_blank" href="/gene/79947">DHDDS</a>, <a target="_blank" href="/gene/64218">SEMA4A</a>, <a target="_blank" href="/gene/57709">SLC7A14</a>, <a target="_blank" href="/gene/55975">KLHL7</a>, <a target="_blank" href="/gene/55857">KIZ</a>, <a target="_blank" href="/gene/55812">SPATA7</a>, <a target="_blank" href="/gene/50939">IMPG2</a>, <a target="_blank" href="/gene/26121">PRPF31</a>, <a target="_blank" href="/gene/25794">FSCN2</a>, <a target="_blank" href="/gene/24148">PRPF6</a>, <a target="_blank" href="/gene/23418">CRB1</a>, <a target="_blank" href="/gene/23020">SNRNP200</a>, <a target="_blank" href="/gene/10594">PRPF8</a>, <a target="_blank" href="/gene/10461">MERTK</a>, <a target="_blank" href="/gene/10210">TOPORS</a>, <a target="_blank" href="/gene/10002">NR2E3</a>, <a target="_blank" href="/gene/9129">PRPF3</a>, <a target="_blank" href="/gene/9128">PRPF4</a>, <a target="_blank" href="/gene/8842">PROM1</a>, <a target="_blank" href="/gene/7439">BEST1</a>, <a target="_blank" href="/gene/7399">USH2A</a>, <a target="_blank" href="/gene/7287">TULP1</a>, <a target="_blank" href="/gene/6295">SAG</a>, <a target="_blank" href="/gene/6121">RPE65</a>, <a target="_blank" href="/gene/6103">RPGR</a>, <a target="_blank" href="/gene/6102">RP2</a>, <a target="_blank" href="/gene/6101">RP1</a>, <a target="_blank" href="/gene/6100">RP9</a>, <a target="_blank" href="/gene/6017">RLBP1</a>, <a target="_blank" href="/gene/6010">RHO</a>, <a target="_blank" href="/gene/5995">RGR</a>, <a target="_blank" href="/gene/5961">PRPH2</a>, <a target="_blank" href="/gene/5158">PDE6B</a>, <a target="_blank" href="/gene/5145">PDE6A</a>, <a target="_blank" href="/gene/4901">NRL</a>, <a target="_blank" href="/gene/4751">NEK2</a>, <a target="_blank" href="/gene/4578">TRNW</a>, <a target="_blank" href="/gene/4577">TRNV</a>, <a target="_blank" href="/gene/4568">TRNL2</a>, <a target="_blank" href="/gene/4567">TRNL1</a>, <a target="_blank" href="/gene/4566">TRNK</a>, <a target="_blank" href="/gene/4565">TRNI</a>, <a target="_blank" href="/gene/4541">ND6</a>, <a target="_blank" href="/gene/4540">ND5</a>, <a target="_blank" href="/gene/4538">ND4</a>, <a target="_blank" href="/gene/4537">ND3</a>, <a target="_blank" href="/gene/4536">ND2</a>, <a target="_blank" href="/gene/4535">ND1</a>, <a target="_blank" href="/gene/4514">COX3</a>, <a target="_blank" href="/gene/4508">ATP6</a>, <a target="_blank" href="/gene/4117">MAK</a>, <a target="_blank" href="/gene/3614">IMPDH1</a>, <a target="_blank" href="/gene/3420">IDH3B</a>, <a target="_blank" href="/gene/2979">GUCA1B</a>, <a target="_blank" href="/gene/1258">CNGB1</a>, <a target="_blank" href="/gene/24">ABCA4</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019200" target="_blank">MONDO:0019200</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/268000" target="_blank">268000</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS268000" target="_blank">PS268000</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=791">ORPHA791</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>
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||
<div class="portlet_content ln">Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [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_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.<br /><br />The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind.<br /><br />The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.<br /><br />Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). <a target="_blank" href="https://medlineplus.gov/genetics/condition/retinitis-pigmentosa">https://medlineplus.gov/genetics/condition/retinitis-pigmentosa</a></div></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_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_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="divPopper rprt" id="clin_1644580"><div><strong>Abnormality of fundus pigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644580</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.">C4703439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644580">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20fundus%20pigmentation%22%5BClinical%20Features%5D%20OR%201644580%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_1644580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of fundus pigmentation</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_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_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_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035334[DISCUI]&test_type=Clinical" ref="ncbi_uid=20551">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0035334[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=20551">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=20551" target="_blank" href="/omim/268000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=20551">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=20551" ref="ncbi_uid=20551">V</a></span></span><span class="TLline">Retinitis pigmentosa</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843816[DISCUI]&test_type=Clinical" ref="ncbi_uid=334499">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334499" target="_blank" href="/omim/180090">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334499" ref="ncbi_uid=334499">V</a></span></span><span class="TLline"><a href="/medgen/334499" ref="tree=GTR&ncbi_uid=334499&link_uid=334499" title="View MedGen record for 'Bothnia retinal dystrophy'">Bothnia retinal dystrophy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751763[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=416624">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416624" target="_blank" href="/omim/604392">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416624" ref="ncbi_uid=416624">V</a></span></span><span class="TLline"><a href="/medgen/416624" ref="tree=GTR&ncbi_uid=416624&link_uid=416624" title="View MedGen record for 'Juvenile retinitis pigmentosa, AIPL1-related'">Juvenile retinitis pigmentosa, AIPL1-related</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858677[DISCUI]&test_type=Clinical" ref="ncbi_uid=346964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346964" target="_blank" href="/omim/604232">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=346964">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346964" ref="ncbi_uid=346964">V</a></span></span><span class="TLline"><a href="/medgen/346964" ref="tree=GTR&ncbi_uid=346964&link_uid=346964" title="View MedGen record for 'Leber congenital amaurosis 3'">Leber congenital amaurosis 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675186[DISCUI]&test_type=Clinical" ref="ncbi_uid=382544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382544" target="_blank" href="/omim/608830">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1417%20OR%20NBK531510)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=382544">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382544" ref="ncbi_uid=382544">V</a></span></span><span class="TLline"><a href="/medgen/382544" ref="tree=GTR&ncbi_uid=382544&link_uid=382544" title="View MedGen record for 'Leber congenital amaurosis 13'">Leber congenital amaurosis 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043634[DISCUI]&test_type=Clinical" ref="ncbi_uid=433159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1173/" ref="ncbi_uid=433159">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=433159" ref="ncbi_uid=433159">V</a></span></span><span class="TLline"><a href="/medgen/433159" ref="tree=GTR&ncbi_uid=433159&link_uid=433159" title="View MedGen record for 'Mitochondrial DNA-Associated Leigh Syndrome and NARP'">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220701[DISCUI]&test_type=Clinical" ref="ncbi_uid=67395">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=67395" target="_blank" href="/omim/180100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=67395">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=67395" ref="ncbi_uid=67395">V</a></span></span><span class="TLline"><a href="/medgen/67395" ref="tree=GTR&ncbi_uid=67395&link_uid=67395" title="View MedGen record for 'Retinitis pigmentosa 1'">Retinitis pigmentosa 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2681923[DISCUI]&test_type=Clinical" ref="ncbi_uid=394544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394544" target="_blank" href="/omim/300757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=394544">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394544" ref="ncbi_uid=394544">V</a></span></span><span class="TLline"><a href="/medgen/394544" ref="tree=GTR&ncbi_uid=394544&link_uid=394544" title="View MedGen record for 'Retinitis pigmentosa 2'">Retinitis pigmentosa 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845667[DISCUI]&test_type=Clinical" ref="ncbi_uid=336999">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336999" target="_blank" href="/omim/300029">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=336999">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336999" ref="ncbi_uid=336999">V</a></span></span><span class="TLline"><a href="/medgen/336999" ref="tree=GTR&ncbi_uid=336999&link_uid=336999" title="View MedGen record for 'Retinitis pigmentosa 3'">Retinitis pigmentosa 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151001[DISCUI]&test_type=Clinical" ref="ncbi_uid=462351">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462351" target="_blank" href="/omim/180380">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462351">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462351" ref="ncbi_uid=462351">V</a></span></span><span class="TLline"><a href="/medgen/462351" ref="tree=GTR&ncbi_uid=462351&link_uid=462351" title="View MedGen record for 'Retinitis pigmentosa 4'">Retinitis pigmentosa 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842475[DISCUI]&test_type=Clinical" ref="ncbi_uid=334168">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334168" target="_blank" href="/omim/179605">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=334168">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334168" ref="ncbi_uid=334168">V</a></span></span><span class="TLline"><a href="/medgen/334168" ref="tree=GTR&ncbi_uid=334168&link_uid=334168" title="View MedGen record for 'Retinitis pigmentosa 7'">Retinitis pigmentosa 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867300[DISCUI]&test_type=Clinical" ref="ncbi_uid=356743">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356743" target="_blank" href="/omim/180104">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=356743">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356743" ref="ncbi_uid=356743">V</a></span></span><span class="TLline"><a href="/medgen/356743" ref="tree=GTR&ncbi_uid=356743&link_uid=356743" title="View MedGen record for 'Retinitis pigmentosa 9'">Retinitis pigmentosa 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867299[DISCUI]&test_type=Clinical" ref="ncbi_uid=357247">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357247" target="_blank" href="/omim/146690">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=357247">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=357247" ref="ncbi_uid=357247">V</a></span></span><span class="TLline"><a href="/medgen/357247" ref="tree=GTR&ncbi_uid=357247&link_uid=357247" title="View MedGen record for 'Retinitis pigmentosa 10'">Retinitis pigmentosa 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838601[DISCUI]&test_type=Clinical" ref="ncbi_uid=325055">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325055" target="_blank" href="/omim/600138">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325055">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325055" ref="ncbi_uid=325055">V</a></span></span><span class="TLline"><a href="/medgen/325055" ref="tree=GTR&ncbi_uid=325055&link_uid=325055" title="View MedGen record for 'Retinitis pigmentosa 11'">Retinitis pigmentosa 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838647[DISCUI]&test_type=Clinical" ref="ncbi_uid=374019">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374019" target="_blank" href="/omim/600105">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=374019">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374019" ref="ncbi_uid=374019">V</a></span></span><span class="TLline"><a href="/medgen/374019" ref="tree=GTR&ncbi_uid=374019&link_uid=374019" title="View MedGen record for 'Retinitis pigmentosa 12'">Retinitis pigmentosa 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838702[DISCUI]&test_type=Clinical" ref="ncbi_uid=325486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325486" target="_blank" href="/omim/600059">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325486" ref="ncbi_uid=325486">V</a></span></span><span class="TLline"><a href="/medgen/325486" ref="tree=GTR&ncbi_uid=325486&link_uid=325486" title="View MedGen record for 'Retinitis pigmentosa 13'">Retinitis pigmentosa 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838603[DISCUI]&test_type=Clinical" ref="ncbi_uid=325056">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325056" target="_blank" href="/omim/600132">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325056">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325056" ref="ncbi_uid=325056">V</a></span></span><span class="TLline"><a href="/medgen/325056" ref="tree=GTR&ncbi_uid=325056&link_uid=325056" title="View MedGen record for 'Retinitis pigmentosa 14'">Retinitis pigmentosa 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833245[DISCUI]&test_type=Clinical" ref="ncbi_uid=322153">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322153" target="_blank" href="/omim/600852">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=322153">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322153" ref="ncbi_uid=322153">V</a></span></span><span class="TLline"><a href="/medgen/322153" ref="tree=GTR&ncbi_uid=322153&link_uid=322153" title="View MedGen record for 'Retinitis pigmentosa 17'">Retinitis pigmentosa 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832378[DISCUI]&test_type=Clinical" ref="ncbi_uid=371314">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371314" target="_blank" href="/omim/601414">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=371314">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371314" ref="ncbi_uid=371314">V</a></span></span><span class="TLline"><a href="/medgen/371314" ref="tree=GTR&ncbi_uid=371314&link_uid=371314" title="View MedGen record for 'Retinitis pigmentosa 18'">Retinitis pigmentosa 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866422[DISCUI]&test_type=Clinical" ref="ncbi_uid=400996">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400996" target="_blank" href="/omim/601691">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=400996">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400996" ref="ncbi_uid=400996">V</a></span></span><span class="TLline"><a href="/medgen/400996" ref="tree=GTR&ncbi_uid=400996&link_uid=400996" title="View MedGen record for 'Retinitis pigmentosa 19'">Retinitis pigmentosa 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151086[DISCUI]&test_type=Clinical" ref="ncbi_uid=462436">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462436" target="_blank" href="/omim/180069">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462436">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462436" ref="ncbi_uid=462436">V</a></span></span><span class="TLline"><a href="/medgen/462436" ref="tree=GTR&ncbi_uid=462436&link_uid=462436" title="View MedGen record for 'Retinitis pigmentosa 20'">Retinitis pigmentosa 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864446[DISCUI]&test_type=Clinical" ref="ncbi_uid=350427">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350427" target="_blank" href="/omim/602772">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=350427">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350427" ref="ncbi_uid=350427">V</a></span></span><span class="TLline"><a href="/medgen/350427" ref="tree=GTR&ncbi_uid=350427&link_uid=350427" title="View MedGen record for 'Retinitis pigmentosa 25'">Retinitis pigmentosa 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842127[DISCUI]&test_type=Clinical" ref="ncbi_uid=333996">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333996" target="_blank" href="/omim/608380">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=333996">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333996" ref="ncbi_uid=333996">V</a></span></span><span class="TLline"><a href="/medgen/333996" ref="tree=GTR&ncbi_uid=333996&link_uid=333996" title="View MedGen record for 'Retinitis pigmentosa 26'">Retinitis pigmentosa 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1834329[DISCUI]&test_type=Clinical" ref="ncbi_uid=320323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=320323" target="_blank" href="/omim/162080">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=320323">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=320323" ref="ncbi_uid=320323">V</a></span></span><span class="TLline"><a href="/medgen/320323" ref="tree=GTR&ncbi_uid=320323&link_uid=320323" title="View MedGen record for 'Retinitis pigmentosa 27'">Retinitis pigmentosa 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1419614[DISCUI]&test_type=Clinical" ref="ncbi_uid=244030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=244030" target="_blank" href="/omim/606068">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=244030">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=244030" ref="ncbi_uid=244030">V</a></span></span><span class="TLline"><a href="/medgen/244030" ref="tree=GTR&ncbi_uid=244030&link_uid=244030" title="View MedGen record for 'Retinitis pigmentosa 28'">Retinitis pigmentosa 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842816[DISCUI]&test_type=Clinical" ref="ncbi_uid=334614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334614" target="_blank" href="/omim/607643">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=334614">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334614" ref="ncbi_uid=334614">V</a></span></span><span class="TLline"><a href="/medgen/334614" ref="tree=GTR&ncbi_uid=334614&link_uid=334614" title="View MedGen record for 'Retinitis pigmentosa 30'">Retinitis pigmentosa 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835923[DISCUI]&test_type=Clinical" ref="ncbi_uid=372159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372159" target="_blank" href="/omim/609507">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=372159">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372159" ref="ncbi_uid=372159">V</a></span></span><span class="TLline"><a href="/medgen/372159" ref="tree=GTR&ncbi_uid=372159&link_uid=372159" title="View MedGen record for 'Retinitis pigmentosa 31'">Retinitis pigmentosa 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835895[DISCUI]&test_type=Clinical" ref="ncbi_uid=332080">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332080" target="_blank" href="/omim/601664">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=332080">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332080" ref="ncbi_uid=332080">V</a></span></span><span class="TLline"><a href="/medgen/332080" ref="tree=GTR&ncbi_uid=332080&link_uid=332080" title="View MedGen record for 'Retinitis pigmentosa 33'">Retinitis pigmentosa 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853214[DISCUI]&test_type=Clinical" ref="ncbi_uid=339931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339931" target="_blank" href="/omim/607292">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=339931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339931" ref="ncbi_uid=339931">V</a></span></span><span class="TLline"><a href="/medgen/339931" ref="tree=GTR&ncbi_uid=339931&link_uid=339931" title="View MedGen record for 'Retinitis pigmentosa 35'">Retinitis pigmentosa 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864621[DISCUI]&test_type=Clinical" ref="ncbi_uid=351175">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351175" target="_blank" href="/omim/610598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=351175">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351175" ref="ncbi_uid=351175">V</a></span></span><span class="TLline"><a href="/medgen/351175" ref="tree=GTR&ncbi_uid=351175&link_uid=351175" title="View MedGen record for 'Retinitis pigmentosa 36'">Retinitis pigmentosa 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970163[DISCUI]&test_type=Clinical" ref="ncbi_uid=410004">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410004" target="_blank" href="/omim/604485">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=410004">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410004" ref="ncbi_uid=410004">V</a></span></span><span class="TLline"><a href="/medgen/410004" ref="tree=GTR&ncbi_uid=410004&link_uid=410004" title="View MedGen record for 'Retinitis pigmentosa 37'">Retinitis pigmentosa 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151228[DISCUI]&test_type=Clinical" ref="ncbi_uid=462578">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462578" target="_blank" href="/omim/604705">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462578">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462578" ref="ncbi_uid=462578">V</a></span></span><span class="TLline"><a href="/medgen/462578" ref="tree=GTR&ncbi_uid=462578&link_uid=462578" title="View MedGen record for 'Retinitis pigmentosa 38'">Retinitis pigmentosa 38</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151138[DISCUI]&test_type=Clinical" ref="ncbi_uid=462488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462488" target="_blank" href="/omim/608400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462488" ref="ncbi_uid=462488">V</a></span></span><span class="TLline"><a href="/medgen/462488" ref="tree=GTR&ncbi_uid=462488&link_uid=462488" title="View MedGen record for 'Retinitis pigmentosa 39'">Retinitis pigmentosa 39</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151107[DISCUI]&test_type=Clinical" ref="ncbi_uid=462457">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462457" target="_blank" href="/omim/180072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462457">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462457" ref="ncbi_uid=462457">V</a></span></span><span class="TLline"><a href="/medgen/462457" ref="tree=GTR&ncbi_uid=462457&link_uid=462457" title="View MedGen record for 'Retinitis pigmentosa 40'">Retinitis pigmentosa 40</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677516[DISCUI]&test_type=Clinical" ref="ncbi_uid=383126">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383126" target="_blank" href="/omim/604365">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=383126">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383126" ref="ncbi_uid=383126">V</a></span></span><span class="TLline"><a href="/medgen/383126" ref="tree=GTR&ncbi_uid=383126&link_uid=383126" title="View MedGen record for 'Retinitis pigmentosa 41'">Retinitis pigmentosa 41</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751986[DISCUI]&test_type=Clinical" ref="ncbi_uid=442864">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442864" target="_blank" href="/omim/611119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=442864">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442864" ref="ncbi_uid=442864">V</a></span></span><span class="TLline"><a href="/medgen/442864" ref="tree=GTR&ncbi_uid=442864&link_uid=442864" title="View MedGen record for 'Retinitis pigmentosa 42'">Retinitis pigmentosa 42</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151139[DISCUI]&test_type=Clinical" ref="ncbi_uid=462489">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462489" target="_blank" href="/omim/180071">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462489">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462489" ref="ncbi_uid=462489">V</a></span></span><span class="TLline"><a href="/medgen/462489" ref="tree=GTR&ncbi_uid=462489&link_uid=462489" title="View MedGen record for 'Retinitis pigmentosa 43'">Retinitis pigmentosa 43</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151068[DISCUI]&test_type=Clinical" ref="ncbi_uid=462418">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462418" target="_blank" href="/omim/600342">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462418">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462418" ref="ncbi_uid=462418">V</a></span></span><span class="TLline"><a href="/medgen/462418" ref="tree=GTR&ncbi_uid=462418&link_uid=462418" title="View MedGen record for 'Retinitis pigmentosa 44'">Retinitis pigmentosa 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151066[DISCUI]&test_type=Clinical" ref="ncbi_uid=462416">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462416" target="_blank" href="/omim/600724">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462416">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462416" ref="ncbi_uid=462416">V</a></span></span><span class="TLline"><a href="/medgen/462416" ref="tree=GTR&ncbi_uid=462416&link_uid=462416" title="View MedGen record for 'Retinitis pigmentosa 45'">Retinitis pigmentosa 45</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675496[DISCUI]&test_type=Clinical" ref="ncbi_uid=382614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382614" target="_blank" href="/omim/604526">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=382614">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382614" ref="ncbi_uid=382614">V</a></span></span><span class="TLline"><a href="/medgen/382614" ref="tree=GTR&ncbi_uid=382614&link_uid=382614" title="View MedGen record for 'Retinitis pigmentosa 46'">Retinitis pigmentosa 46</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151061[DISCUI]&test_type=Clinical" ref="ncbi_uid=462411">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462411" target="_blank" href="/omim/181031">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462411">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462411" ref="ncbi_uid=462411">V</a></span></span><span class="TLline"><a href="/medgen/462411" ref="tree=GTR&ncbi_uid=462411&link_uid=462411" title="View MedGen record for 'Retinitis pigmentosa 47'">Retinitis pigmentosa 47</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151190[DISCUI]&test_type=Clinical" ref="ncbi_uid=462540">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462540" target="_blank" href="/omim/602275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462540">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462540" ref="ncbi_uid=462540">V</a></span></span><span class="TLline"><a href="/medgen/462540" ref="tree=GTR&ncbi_uid=462540&link_uid=462540" title="View MedGen record for 'Retinitis pigmentosa 48'">Retinitis pigmentosa 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750789[DISCUI]&test_type=Clinical" ref="ncbi_uid=442563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442563" target="_blank" href="/omim/607854">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=442563">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442563" ref="ncbi_uid=442563">V</a></span></span><span class="TLline"><a href="/medgen/442563" ref="tree=GTR&ncbi_uid=442563&link_uid=442563" title="View MedGen record for 'Retinitis pigmentosa 50'">Retinitis pigmentosa 50</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150715[DISCUI]&test_type=Clinical" ref="ncbi_uid=462065">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462065" target="_blank" href="/omim/608132">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462065">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462065" ref="ncbi_uid=462065">V</a></span></span><span class="TLline"><a href="/medgen/462065" ref="tree=GTR&ncbi_uid=462065&link_uid=462065" title="View MedGen record for 'Retinitis pigmentosa 51'">Retinitis pigmentosa 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150691[DISCUI]&test_type=Clinical" ref="ncbi_uid=462041">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462041" target="_blank" href="/omim/613425">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462041">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462041" ref="ncbi_uid=462041">V</a></span></span><span class="TLline"><a href="/medgen/462041" ref="tree=GTR&ncbi_uid=462041&link_uid=462041" title="View MedGen record for 'Retinitis pigmentosa 54'">Retinitis pigmentosa 54</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150819[DISCUI]&test_type=Clinical" ref="ncbi_uid=462169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462169" target="_blank" href="/omim/607056">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462169">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462169" ref="ncbi_uid=462169">V</a></span></span><span class="TLline"><a href="/medgen/462169" ref="tree=GTR&ncbi_uid=462169&link_uid=462169" title="View MedGen record for 'Retinitis pigmentosa 56'">Retinitis pigmentosa 56</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150879[DISCUI]&test_type=Clinical" ref="ncbi_uid=462229">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462229" target="_blank" href="/omim/613598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462229">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462229" ref="ncbi_uid=462229">V</a></span></span><span class="TLline"><a href="/medgen/462229" ref="tree=GTR&ncbi_uid=462229&link_uid=462229" title="View MedGen record for 'Retinitis pigmentosa 58'">Retinitis pigmentosa 58</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151227[DISCUI]&test_type=Clinical" ref="ncbi_uid=462577">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462577" target="_blank" href="/omim/608172">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462577">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462577" ref="ncbi_uid=462577">V</a></span></span><span class="TLline"><a href="/medgen/462577" ref="tree=GTR&ncbi_uid=462577&link_uid=462577" title="View MedGen record for 'Retinitis pigmentosa 59'">Retinitis pigmentosa 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151434[DISCUI]&test_type=Clinical" ref="ncbi_uid=462784">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462784" target="_blank" href="/omim/613979">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462784">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462784" ref="ncbi_uid=462784">V</a></span></span><span class="TLline"><a href="/medgen/462784" ref="tree=GTR&ncbi_uid=462784&link_uid=462784" title="View MedGen record for 'Retinitis pigmentosa 60'">Retinitis pigmentosa 60</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280042[DISCUI]&test_type=Clinical" ref="ncbi_uid=481672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481672" target="_blank" href="/omim/154235">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=481672">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481672" ref="ncbi_uid=481672">V</a></span></span><span class="TLline"><a href="/medgen/481672" ref="tree=GTR&ncbi_uid=481672&link_uid=481672" title="View MedGen record for 'Retinitis pigmentosa 62'">Retinitis pigmentosa 62</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3281046[DISCUI]&test_type=Clinical" ref="ncbi_uid=482676">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482676" target="_blank" href="/omim/614477">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482676" ref="ncbi_uid=482676">V</a></span></span><span class="TLline"><a href="/medgen/482676" ref="tree=GTR&ncbi_uid=482676&link_uid=482676" title="View MedGen record for 'Retinitis pigmentosa 64'">Retinitis pigmentosa 64</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3552852[DISCUI]&test_type=Clinical" ref="ncbi_uid=765766">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765766" target="_blank" href="/omim/609502">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=765766" ref="ncbi_uid=765766">V</a></span></span><span class="TLline"><a href="/medgen/765766" ref="tree=GTR&ncbi_uid=765766&link_uid=765766" title="View MedGen record for 'Retinitis pigmentosa 65'">Retinitis pigmentosa 65</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3715216[DISCUI]&test_type=Clinical" ref="ncbi_uid=811638">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811638" target="_blank" href="/omim/180290">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811638" ref="ncbi_uid=811638">V</a></span></span><span class="TLline"><a href="/medgen/811638" ref="tree=GTR&ncbi_uid=811638&link_uid=811638" title="View MedGen record for 'Retinitis pigmentosa 66'">Retinitis pigmentosa 66</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809954[DISCUI]&test_type=Clinical" ref="ncbi_uid=816284">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816284" target="_blank" href="/omim/604043">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816284" ref="ncbi_uid=816284">V</a></span></span><span class="TLline"><a href="/medgen/816284" ref="tree=GTR&ncbi_uid=816284&link_uid=816284" title="View MedGen record for 'Retinitis pigmentosa 67'">Retinitis pigmentosa 67</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810380[DISCUI]&test_type=Clinical" ref="ncbi_uid=816710">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816710" target="_blank" href="/omim/615720">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816710" ref="ncbi_uid=816710">V</a></span></span><span class="TLline"><a href="/medgen/816710" ref="tree=GTR&ncbi_uid=816710&link_uid=816710" title="View MedGen record for 'Retinitis pigmentosa 68'">Retinitis pigmentosa 68</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014312[DISCUI]&test_type=Clinical" ref="ncbi_uid=862749">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862749" target="_blank" href="/omim/615757">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862749" ref="ncbi_uid=862749">V</a></span></span><span class="TLline"><a href="/medgen/862749" ref="tree=GTR&ncbi_uid=862749&link_uid=862749" title="View MedGen record for 'Retinitis pigmentosa 69'">Retinitis pigmentosa 69</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014681[DISCUI]&test_type=Clinical" ref="ncbi_uid=863118">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863118" target="_blank" href="/omim/607795">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863118" ref="ncbi_uid=863118">V</a></span></span><span class="TLline"><a href="/medgen/863118" ref="tree=GTR&ncbi_uid=863118&link_uid=863118" title="View MedGen record for 'Retinitis pigmentosa 70'">Retinitis pigmentosa 70</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/5092" ref="tree=MeSH" title="MedGen record for Disorder of eye">Disorder of eye</a></span><ul><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><li><span class="matched_ds">Retinitis pigmentosa</span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/156019" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome">Bardet-Biedl syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/422452" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 1">Bardet-Biedl syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/422453" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 2">Bardet-Biedl syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/347179" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 3">Bardet-Biedl syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/423627" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 4">Bardet-Biedl syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/856141" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 5">Bardet-Biedl syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/347610" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 6">Bardet-Biedl syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/347180" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 7">Bardet-Biedl syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/347181" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 8">Bardet-Biedl syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/347182" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 9">Bardet-Biedl syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/347909" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 10">Bardet-Biedl syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/395295" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 11">Bardet-Biedl syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/347910" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 12">Bardet-Biedl syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/393032" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 13">Bardet-Biedl syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/393033" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 14">Bardet-Biedl syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/461477" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 15">Bardet-Biedl syndrome 15</a></span></li><li><span class="TLline"><a href="/medgen/855172" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 16">Bardet-Biedl syndrome 16</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/334499" ref="tree=MeSH" title="MedGen record for Bothnia retinal dystrophy">Bothnia retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/416624" ref="tree=MeSH" title="MedGen record for Juvenile retinitis pigmentosa, AIPL1-related">Juvenile retinitis pigmentosa, AIPL1-related</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346964" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 3">Leber congenital amaurosis 3</a></span></li><li><span class="TLline"><a href="/medgen/382544" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 13">Leber congenital amaurosis 13</a></span></li><li><span class="TLline"><a href="/medgen/433159" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA-Associated Leigh Syndrome and NARP">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a></span></li><li><span class="TLline"><a href="/medgen/67395" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 1">Retinitis pigmentosa 1</a></span></li><li><span class="TLline"><a href="/medgen/394544" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 2">Retinitis pigmentosa 2</a></span></li><li><span class="TLline"><a href="/medgen/336999" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 3">Retinitis pigmentosa 3</a></span></li><li><span class="TLline"><a href="/medgen/462351" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 4">Retinitis pigmentosa 4</a></span></li><li><span class="TLline"><a href="/medgen/334168" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 7">Retinitis pigmentosa 7</a></span></li><li><span class="TLline"><a href="/medgen/356743" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 9">Retinitis pigmentosa 9</a></span></li><li><span class="TLline"><a href="/medgen/357247" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 10">Retinitis pigmentosa 10</a></span></li><li><span class="TLline"><a href="/medgen/325055" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 11">Retinitis pigmentosa 11</a></span></li><li><span class="TLline"><a href="/medgen/374019" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 12">Retinitis pigmentosa 12</a></span></li><li><span class="TLline"><a href="/medgen/325486" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 13">Retinitis pigmentosa 13</a></span></li><li><span class="TLline"><a href="/medgen/325056" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 14">Retinitis pigmentosa 14</a></span></li><li><span class="TLline"><a href="/medgen/322153" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 17">Retinitis pigmentosa 17</a></span></li><li><span class="TLline"><a href="/medgen/371314" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 18">Retinitis pigmentosa 18</a></span></li><li><span class="TLline"><a href="/medgen/400996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 19">Retinitis pigmentosa 19</a></span></li><li><span class="TLline"><a href="/medgen/462436" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 20">Retinitis pigmentosa 20</a></span></li><li><span class="TLline"><a href="/medgen/350427" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 25">Retinitis pigmentosa 25</a></span></li><li><span class="TLline"><a href="/medgen/333996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 26">Retinitis pigmentosa 26</a></span></li><li><span class="TLline"><a href="/medgen/320323" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 27">Retinitis pigmentosa 27</a></span></li><li><span class="TLline"><a href="/medgen/244030" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 28">Retinitis pigmentosa 28</a></span></li><li><span class="TLline"><a href="/medgen/334614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 30">Retinitis pigmentosa 30</a></span></li><li><span class="TLline"><a href="/medgen/372159" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 31">Retinitis pigmentosa 31</a></span></li><li><span class="TLline"><a href="/medgen/332080" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 33">Retinitis pigmentosa 33</a></span></li><li><span class="TLline"><a href="/medgen/339931" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 35">Retinitis pigmentosa 35</a></span></li><li><span class="TLline"><a href="/medgen/351175" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 36">Retinitis pigmentosa 36</a></span></li><li><span class="TLline"><a href="/medgen/410004" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 37">Retinitis pigmentosa 37</a></span></li><li><span class="TLline"><a href="/medgen/462578" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 38">Retinitis pigmentosa 38</a></span></li><li><span class="TLline"><a href="/medgen/462488" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 39">Retinitis pigmentosa 39</a></span></li><li><span class="TLline"><a href="/medgen/462457" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 40">Retinitis pigmentosa 40</a></span></li><li><span class="TLline"><a href="/medgen/383126" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 41">Retinitis pigmentosa 41</a></span></li><li><span class="TLline"><a href="/medgen/442864" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 42">Retinitis pigmentosa 42</a></span></li><li><span class="TLline"><a href="/medgen/462489" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 43">Retinitis pigmentosa 43</a></span></li><li><span class="TLline"><a href="/medgen/462418" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 44">Retinitis pigmentosa 44</a></span></li><li><span class="TLline"><a href="/medgen/462416" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 45">Retinitis pigmentosa 45</a></span></li><li><span class="TLline"><a href="/medgen/382614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 46">Retinitis pigmentosa 46</a></span></li><li><span class="TLline"><a href="/medgen/462411" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 47">Retinitis pigmentosa 47</a></span></li><li><span class="TLline"><a href="/medgen/462540" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 48">Retinitis pigmentosa 48</a></span></li><li><span class="TLline"><a href="/medgen/442563" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 50">Retinitis pigmentosa 50</a></span></li><li><span class="TLline"><a href="/medgen/462065" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 51">Retinitis pigmentosa 51</a></span></li><li><span class="TLline"><a href="/medgen/462041" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 54">Retinitis pigmentosa 54</a></span></li><li><span class="TLline"><a href="/medgen/462169" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 56">Retinitis pigmentosa 56</a></span></li><li><span class="TLline"><a href="/medgen/462229" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 58">Retinitis pigmentosa 58</a></span></li><li><span class="TLline"><a href="/medgen/462577" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 59">Retinitis pigmentosa 59</a></span></li><li><span class="TLline"><a href="/medgen/462784" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 60">Retinitis pigmentosa 60</a></span></li><li><span class="TLline"><a href="/medgen/481672" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 62">Retinitis pigmentosa 62</a></span></li><li><span class="TLline"><a href="/medgen/482676" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 64">Retinitis pigmentosa 64</a></span></li><li><span class="TLline"><a href="/medgen/765766" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 65">Retinitis pigmentosa 65</a></span></li><li><span class="TLline"><a href="/medgen/811638" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 66">Retinitis pigmentosa 66</a></span></li><li><span class="TLline"><a href="/medgen/816284" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 67">Retinitis pigmentosa 67</a></span></li><li><span class="TLline"><a href="/medgen/816710" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 68">Retinitis pigmentosa 68</a></span></li><li><span class="TLline"><a href="/medgen/862749" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 69">Retinitis pigmentosa 69</a></span></li><li><span class="TLline"><a href="/medgen/863118" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 70">Retinitis pigmentosa 70</a></span></li><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/292820" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1">Usher syndrome type 1</a></span><ul><li><span class="TLline"><a href="/medgen/419358" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1B">Usher syndrome type 1B</a></span></li><li><span class="TLline"><a href="/medgen/338506" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1C">Usher syndrome type 1C</a></span></li><li><span class="TLline"><a href="/medgen/322051" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1D">Usher syndrome type 1D</a></span></li><li><span class="TLline"><a href="/medgen/400865" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1E">Usher syndrome type 1E</a></span></li><li><span class="TLline"><a href="/medgen/356393" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1F">Usher syndrome type 1F</a></span></li><li><span class="TLline"><a href="/medgen/339683" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1G">Usher syndrome type 1G</a></span></li><li><span class="TLline"><a href="/medgen/393392" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1H">Usher syndrome type 1H</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83288" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2">Usher syndrome type 2</a></span><ul><li><span class="TLline"><a href="/medgen/419359" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2C">Usher syndrome type 2C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/339336" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3">Usher syndrome type 3</a></span><ul><li><span class="TLline"><a href="/medgen/1830415" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3A">Usher syndrome type 3A</a></span></li><li><span class="TLline"><a href="/medgen/482696" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3B">Usher syndrome type 3B</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=659&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Retinitis pigmentosa</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/37108642">Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen XT,
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Moekotte L,
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Plomp AS,
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Bergen AA,
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van Genderen MM,
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Boon CJF</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2023 Apr 19;24(8)
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doi: 10.3390/ijms24087481.
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<span class="bold">PMID: </span><a href="/pubmed/37108642" target="_blank">37108642</a><a href="/pmc/articles/PMC10139437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30585930">Retinitis Pigmentosa: Review of Current Treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang AL,
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Knight DK,
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Vu TT,
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Mehta MC</span><br />
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<span class="medgenPMjournal">Int Ophthalmol Clin</span>
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2019 Winter;59(1):263-280.
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doi: 10.1097/IIO.0000000000000256.
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<span class="bold">PMID: </span><a href="/pubmed/30585930" target="_blank">30585930</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25356976">Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Huang XF,
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Huang F,
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Wu KC,
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Wu J,
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Chen J,
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Pang CP,
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Lu F,
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Qu J,
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Jin ZB</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2015 Apr;17(4):271-8.
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Epub 2014 Nov 6
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doi: 10.1038/gim.2014.138.
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<span class="bold">PMID: </span><a href="/pubmed/25356976" target="_blank">25356976</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinitis%20pigmentosa%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (266)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22234150">Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramsden SC,
|
||
Davidson AE,
|
||
Leroy BP,
|
||
Moore AT,
|
||
Webster AR,
|
||
Black GC,
|
||
Manson FD</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 May;20(5)
|
||
Epub 2012 Jan 11
|
||
doi: 10.1038/ejhg.2011.251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22234150" target="_blank">22234150</a><a href="/pmc/articles/PMC3330226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26666451">In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakondi B,
|
||
Lv W,
|
||
Lu B,
|
||
Jones MK,
|
||
Tsai Y,
|
||
Kim KJ,
|
||
Levy R,
|
||
Akhtar AA,
|
||
Breunig JJ,
|
||
Svendsen CN,
|
||
Wang S</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2016 Mar;24(3):556-63.
|
||
Epub 2015 Dec 15
|
||
doi: 10.1038/mt.2015.220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26666451" target="_blank">26666451</a><a href="/pmc/articles/PMC4786918" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/37108642">Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen XT,
|
||
Moekotte L,
|
||
Plomp AS,
|
||
Bergen AA,
|
||
van Genderen MM,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Apr 19;24(8)
|
||
doi: 10.3390/ijms24087481.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37108642" target="_blank">37108642</a><a href="/pmc/articles/PMC10139437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35792991">Mechanism of Cone Degeneration in Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song DJ,
|
||
Bao XL,
|
||
Fan B,
|
||
Li GY</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Neurobiol</span>
|
||
2023 Apr;43(3):1037-1048.
|
||
Epub 2022 Jul 6
|
||
doi: 10.1007/s10571-022-01243-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35792991" target="_blank">35792991</a><a href="/pmc/articles/PMC11414453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32589402">Retinitis Pigmentosa and Retinal Degenerations: Deciphering Pathways and Targets for Drug Discovery and Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carullo G,
|
||
Federico S,
|
||
Relitti N,
|
||
Gemma S,
|
||
Butini S,
|
||
Campiani G</span><br />
|
||
<span class="medgenPMjournal">ACS Chem Neurosci</span>
|
||
2020 Aug 5;11(15):2173-2191.
|
||
Epub 2020 Jul 9
|
||
doi: 10.1021/acschemneuro.0c00358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32589402" target="_blank">32589402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29597005">Non-syndromic retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbakel SK,
|
||
van Huet RAC,
|
||
Boon CJF,
|
||
den Hollander AI,
|
||
Collin RWJ,
|
||
Klaver CCW,
|
||
Hoyng CB,
|
||
Roepman R,
|
||
Klevering BJ</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2018 Sep;66:157-186.
|
||
Epub 2018 Mar 27
|
||
doi: 10.1016/j.preteyeres.2018.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29597005" target="_blank">29597005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9775217">The cone dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simunovic MP,
|
||
Moore AT</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
1998;12 ( Pt 3b):553-65.
|
||
doi: 10.1038/eye.1998.145.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9775217" target="_blank">9775217</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%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 (2187)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37318400">Retinitis Pigmentosa in Oliver McFarlane Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumari S,
|
||
Bagraniya V,
|
||
Kumar V</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2023 Nov;7(11):1009.
|
||
Epub 2023 Jun 13
|
||
doi: 10.1016/j.oret.2023.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37318400" target="_blank">37318400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35563274">Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu W,
|
||
Liu S,
|
||
Li P,
|
||
Yao K</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Apr 28;23(9)
|
||
doi: 10.3390/ijms23094883.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35563274" target="_blank">35563274</a><a href="/pmc/articles/PMC9101511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31948687">Sector retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palma-Carvajal F,
|
||
Salazar-Villegas Á,
|
||
Alé-Chilet A,
|
||
Bernal-Morales C,
|
||
Dotti-Boada M,
|
||
Figueroa-Vercellino JP,
|
||
Alforja S</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2020 Feb;43(2):186-188.
|
||
Epub 2020 Jan 13
|
||
doi: 10.1016/j.jfo.2019.07.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31948687" target="_blank">31948687</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27488069">Retinitis Pigmentosa: Progress and Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2016 Jul-Aug;5(4):265-71.
|
||
doi: 10.1097/APO.0000000000000227.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27488069" target="_blank">27488069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23701314">Genes and mutations causing retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daiger SP,
|
||
Sullivan LS,
|
||
Bowne SJ</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2013 Aug;84(2):132-41.
|
||
Epub 2013 Jun 19
|
||
doi: 10.1111/cge.12203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23701314" target="_blank">23701314</a><a href="/pmc/articles/PMC3856531" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%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 (3201)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34439845">Therapy Approaches for Stargardt Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piotter E,
|
||
McClements ME,
|
||
MacLaren RE</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2021 Aug 9;11(8)
|
||
doi: 10.3390/biom11081179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34439845" target="_blank">34439845</a><a href="/pmc/articles/PMC8393614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32094925">Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cehajic-Kapetanovic J,
|
||
Xue K,
|
||
Martinez-Fernandez de la Camara C,
|
||
Nanda A,
|
||
Davies A,
|
||
Wood LJ,
|
||
Salvetti AP,
|
||
Fischer MD,
|
||
Aylward JW,
|
||
Barnard AR,
|
||
Jolly JK,
|
||
Luo E,
|
||
Lujan BJ,
|
||
Ong T,
|
||
Girach A,
|
||
Black GCM,
|
||
Gregori NZ,
|
||
Davis JL,
|
||
Rosa PR,
|
||
Lotery AJ,
|
||
Lam BL,
|
||
Stanga PE,
|
||
MacLaren RE</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2020 Mar;26(3):354-359.
|
||
Epub 2020 Feb 24
|
||
doi: 10.1038/s41591-020-0763-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32094925" target="_blank">32094925</a><a href="/pmc/articles/PMC7104347" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30585930">Retinitis Pigmentosa: Review of Current Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang AL,
|
||
Knight DK,
|
||
Vu TT,
|
||
Mehta MC</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
2019 Winter;59(1):263-280.
|
||
doi: 10.1097/IIO.0000000000000256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30585930" target="_blank">30585930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27488069">Retinitis Pigmentosa: Progress and Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2016 Jul-Aug;5(4):265-71.
|
||
doi: 10.1097/APO.0000000000000227.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27488069" target="_blank">27488069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17113430">Retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartong DT,
|
||
Berson EL,
|
||
Dryja TP</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2006 Nov 18;368(9549):1795-809.
|
||
doi: 10.1016/S0140-6736(06)69740-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17113430" target="_blank">17113430</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%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 (896)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33576794">Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombo L,
|
||
Maltese PE,
|
||
Castori M,
|
||
El Shamieh S,
|
||
Zeitz C,
|
||
Audo I,
|
||
Zulian A,
|
||
Marinelli C,
|
||
Benedetti S,
|
||
Costantini A,
|
||
Bressan S,
|
||
Percio M,
|
||
Ferri P,
|
||
Abeshi A,
|
||
Bertelli M,
|
||
Rossetti L</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2021 Feb 1;62(2):13.
|
||
doi: 10.1167/iovs.62.2.13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33576794" target="_blank">33576794</a><a href="/pmc/articles/PMC7884295" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32188678">Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao FJ,
|
||
Wang DD,
|
||
Chen F,
|
||
Sun HX,
|
||
Hu FY,
|
||
Xu P,
|
||
Li J,
|
||
Liu W,
|
||
Qi YH,
|
||
Li W,
|
||
Wang M,
|
||
Zhang S,
|
||
Xu GZ,
|
||
Chang Q,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2021 Jan;105(1):87-92.
|
||
Epub 2020 Mar 18
|
||
doi: 10.1136/bjophthalmol-2020-315878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32188678" target="_blank">32188678</a><a href="/pmc/articles/PMC7788223" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24732760">Juvenile-onset macular degeneration and allied disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">North V,
|
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|
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Tsang SH</span><br />
|
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|
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2014;53:44-52.
|
||
Epub 2014 Apr 10
|
||
doi: 10.1159/000357293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24732760" target="_blank">24732760</a><a href="/pmc/articles/PMC4405533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/17901676">Revesz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riyaz A,
|
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Riyaz N,
|
||
Jayakrishnan MP,
|
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|
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|
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|
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|
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<span class="bold">PMID: </span><a href="/pubmed/17901676" target="_blank">17901676</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/4573331">The cone degenerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krill AE,
|
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<span class="medgenPMjournal">Doc Ophthalmol</span>
|
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1973 Apr 16;35(1):1-80.
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/4573331" target="_blank">4573331</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%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 (1221)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38332612">Linear streaks associated with retinitis pigmentosa.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia Parodi M,
|
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Arrigo A,
|
||
Aragona E,
|
||
Pina A,
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||
Bandello F</span><br />
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<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2024 Nov;34(6):1975-1978.
|
||
Epub 2024 Feb 8
|
||
doi: 10.1177/11206721241232450.
|
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<span class="bold">PMID: </span><a href="/pubmed/38332612" target="_blank">38332612</a><a href="/pmc/articles/PMC11542335" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36646739">Characterizing macular edema in retinitis pigmentosa through a combined structural and microvascular optical coherence tomography investigation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Arrigo A,
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Aragona E,
|
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Perra C,
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Bianco L,
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Antropoli A,
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Saladino A,
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Berni A,
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Basile G,
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Pina A,
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Bandello F,
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Battaglia Parodi M</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2023 Jan 16;13(1):800.
|
||
doi: 10.1038/s41598-023-27994-6.
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<span class="bold">PMID: </span><a href="/pubmed/36646739" target="_blank">36646739</a><a href="/pmc/articles/PMC9842653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32558598">Fast intrinsic optical signal correlates with activation phase of phototransduction in retinal photoreceptors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao X,
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Kim TH</span><br />
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<span class="medgenPMjournal">Exp Biol Med (Maywood)</span>
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2020 Jul;245(13):1087-1095.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1177/1535370220935406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32558598" target="_blank">32558598</a><a href="/pmc/articles/PMC7400727" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31884612">A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dockery A,
|
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Carrigan M,
|
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Wynne N,
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Stephenson K,
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Keegan D,
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Kenna PF,
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Farrar GJ</span><br />
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<span class="medgenPMjournal">Adv Exp Med Biol</span>
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2019;1185:203-207.
|
||
doi: 10.1007/978-3-030-27378-1_33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31884612" target="_blank">31884612</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18600550">IMP dehydrogenase-linked retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hedstrom L</span><br />
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<span class="medgenPMjournal">Nucleosides Nucleotides Nucleic Acids</span>
|
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2008 Jun;27(6):839-49.
|
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doi: 10.1080/15257770802146486.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18600550" target="_blank">18600550</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%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 (1896)</a></div></div>
|
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</div>
|
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|
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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">
|
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<div class="nl"><a target="_blank" href="/pubmed/39379520">Ferroptosis in eye diseases: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei S,
|
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Li J,
|
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Zhang Y,
|
||
Li Y,
|
||
Wang Y</span><br />
|
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<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2025 Jan;39(1):18-27.
|
||
Epub 2024 Oct 8
|
||
doi: 10.1038/s41433-024-03371-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39379520" target="_blank">39379520</a><a href="/pmc/articles/PMC11733247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36809201">Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2023 Mar 1;24(3):140-146.
|
||
doi: 10.1097/CND.0000000000000422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36809201" target="_blank">36809201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33576772">A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assi L,
|
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Chamseddine F,
|
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Ibrahim P,
|
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Sabbagh H,
|
||
Rosman L,
|
||
Congdon N,
|
||
Evans J,
|
||
Ramke J,
|
||
Kuper H,
|
||
Burton MJ,
|
||
Ehrlich JR,
|
||
Swenor BK</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2021 May 1;139(5):526-541.
|
||
doi: 10.1001/jamaophthalmol.2021.0146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33576772" target="_blank">33576772</a><a href="/pmc/articles/PMC7881366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32573764">Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SG,
|
||
Wang X,
|
||
Chavis P,
|
||
Kuriyan AE,
|
||
Abariga SA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jun 18;6(6):CD008428.
|
||
doi: 10.1002/14651858.CD008428.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32573764" target="_blank">32573764</a><a href="/pmc/articles/PMC7388842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27488069">Retinitis Pigmentosa: Progress and Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2016 Jul-Aug;5(4):265-71.
|
||
doi: 10.1097/APO.0000000000000227.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27488069" target="_blank">27488069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%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 (46)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
</div>
|
||
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|
||
|
||
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|
||
|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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||
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0035334%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (79)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035334%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035334%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035334%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035334%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (106)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035334%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (26)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0035334%5bDISCUI%5d" target="_blank">See all (113)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=268000" target="_blank">OMIM</a></li><li><a href="https://www.omim.org/phenotypicSeries/PS268000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=791" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Retinitis%20pigmentosa" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(%22retinitis%20pigmentosa%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Retinitis%20pigmentosa%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//22234150/">EuroGentest, 2012</a><div>Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></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=123825%20180073%20180290%20180721%20602225%20604392%20604863%20606397%20608845%20614477" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1259[geneid]" target="_blank">View CNGA1 variations in ClinVar</a></li><li><a href="/clinvar/?term=1406[geneid]" target="_blank">View CRX variations in ClinVar</a></li><li><a href="/clinvar/?term=5148[geneid]" target="_blank">View PDE6G variations in ClinVar</a></li><li><a href="/clinvar/?term=5949[geneid]" target="_blank">View RBP3 variations in ClinVar</a></li><li><a href="/clinvar/?term=6094[geneid]" target="_blank">View ROM1 variations in ClinVar</a></li><li><a href="/clinvar/?term=7401[geneid]" target="_blank">View CLRN1 variations in ClinVar</a></li><li><a href="/clinvar/?term=9227[geneid]" target="_blank">View LRAT variations in ClinVar</a></li><li><a href="/clinvar/?term=23746[geneid]" target="_blank">View AIPL1 variations in ClinVar</a></li><li><a href="/clinvar/?term=84100[geneid]" target="_blank">View ARL6 variations in ClinVar</a></li><li><a href="/clinvar/?term=157657[geneid]" target="_blank">View CFAP418 variations in ClinVar</a></li><li><a href="/nuccore/193211406,198442852,205277430,216548438,218505692,218749824,224028229,224028255" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=268000" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Retinitis+pigmentosa/6248" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/retinitis_pigmentosa" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Retinitis%20pigmentosa" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/retinitis-pigmentosa" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5694/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301590" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Retinitis%20pigmentosa" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Retinitis%20pigmentosa%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
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</div>
|
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=20551" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=20551" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0035334[DISCUI]" ref="log$=recordlinks">GTR</a>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0035334[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0035334[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
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<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
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</li>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=20551" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=20551" ref="log$=recordlinks">PubMed</a>
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|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=20551" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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</li>
|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=20551" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca13f3b15b832ebc2ad29d">Retinitis pigmentosa</a>
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<div class="ralinkpop offscreen_noflow">Retinitis pigmentosa<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca13efa68b6b5afc8b356f">C0035334[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca13eab15b832ebc2aa437">OR4F5[gene] <span class="number">(12)</span></a>
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<div class="tertiary">ClinVar</div>
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca13e9a68b6b5afc8b1d4a">OR4F5[gene] AND and AND "single gene"[properties] <span class="number">(9)</span></a>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca13e884f3725e59565268">OR4F5 olfactory receptor family 4 subfamily F member 5 [Homo sapiens]</a>
|
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<div class="ralinkpop offscreen_noflow">OR4F5 olfactory receptor family 4 subfamily F member 5 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:79501</div></div>
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<div class="tertiary">Gene</div>
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