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<title>
Entry
- #300424 - RETINITIS PIGMENTOSA 23; RP23
- OMIM
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<span class="h4">#300424</span>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/300424"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS268000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(RETINITIS PIGMENTOSA) OR (OFD1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=659&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/6261" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300424[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=791" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110412" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/300424" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 791<br />
<strong>DO:</strong> 0110412<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
300424
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
RETINITIS PIGMENTOSA 23; RP23
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/70?start=-3&limit=10&highlight=70">
Xp22.2
</a>
</span>
</td>
<td>
<span class="mim-font">
?Retinitis pigmentosa 23
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
</span>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300424"> 300424 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
OFD1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300170"> 300170 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/300424" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/300424" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/300424" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Decreased visual acuity (in early childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232487</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
Decreased visual fields <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241692</a>]</span><br /> -
Decreased night vision <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0861157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0861157</a>]</span><br /> -
Abnormal color vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23289000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23289000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234629</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000551</a>]</span><br /> -
Retinal pigment epithelium atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/421506003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">421506003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720251&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720251</a>]</span><br /> -
Intraretinal pigmentation in the midperiphery <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806628</a>]</span><br /> -
Attenuated retinal arterioles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232488</a>]</span><br /> -
Nondetectable responses seen on electroretinography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232489</a>]</span><br /> -
Posterior subcapsular cataracts (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/315353005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">315353005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007787</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Affected males have onset of poor vision before the age of 2 years<br /> -
Carrier females have normal funduscopic examinations and normal waveforms seen on electroretinography<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the OFD1 centriole and centriolar satellite protein gene (OFD1, <a href="/entry/300170#0011">300170.0011</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Retinitis pigmentosa
- <a href="/phenotypicSeries/PS268000">PS268000</a>
- 102 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/323?start=-3&limit=10&highlight=323"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> Retinitis pigmentosa 59 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> 613861 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> DHDDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> 608172 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/323?start=-3&limit=10&highlight=323"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> ?Congenital disorder of glycosylation, type 1bb </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> 613861 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> DHDDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> 608172 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617123"> Retinitis pigmentosa 76 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617123"> 617123 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> POMGNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> 606822 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/706?start=-3&limit=10&highlight=706"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613794"> Retinitis pigmentosa 20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613794"> 613794 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> RPE65 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> 180069 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/706?start=-3&limit=10&highlight=706"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618697"> Retinitis pigmentosa 87 with choroidal involvement </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618697"> 618697 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> RPE65 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> 180069 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/814?start=-3&limit=10&highlight=814"> 1p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601718"> Retinitis pigmentosa 19 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601718"> 601718 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601691"> ABCA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601691"> 601691 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/866?start=-3&limit=10&highlight=866"> 1p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609913"> Retinitis pigmentosa 32 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609913"> 609913 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617539"> CLCC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617539"> 617539 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1066?start=-3&limit=10&highlight=1066"> 1q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601414"> Retinitis pigmentosa 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601414"> 601414 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607301"> PRPF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607301"> 607301 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1241?start=-3&limit=10&highlight=1241"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610282"> Retinitis pigmentosa 35 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610282"> 610282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607292"> SEMA4A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607292"> 607292 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1536?start=-3&limit=10&highlight=1536"> 1q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600105"> Retinitis pigmentosa-12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600105"> 600105 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604210"> CRB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604210"> 604210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1680?start=-3&limit=10&highlight=1680"> 1q32.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615565"> ?Retinitis pigmentosa 67 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615565"> 615565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604043"> NEK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604043"> 604043 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1707?start=-3&limit=10&highlight=1707"> 1q41 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613809"> Retinitis pigmentosa 39 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613809"> 613809 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608400"> USH2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608400"> 608400 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/116?start=-3&limit=10&highlight=116"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617023"> Retinitis pigmentosa 75 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617023"> 617023 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615900"> AGBL5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615900"> 615900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/135?start=-3&limit=10&highlight=135"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613617"> ?Retinitis pigmentosa 58 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613617"> 613617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613598"> ZNF513 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613598"> 613598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/139?start=-3&limit=10&highlight=139"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616394"> Retinitis pigmentosa 71 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616394"> 616394 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607386"> IFT172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607386"> 607386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/156?start=-3&limit=10&highlight=156"> 2p23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613428"> Retinitis pigmentosa 54 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613428"> 613428 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613425"> PCARE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613425"> 613425 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/283?start=-3&limit=10&highlight=283"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606068"> Retinitis pigmentosa 28 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606068"> 606068 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613596"> FAM161A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613596"> 613596 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/476?start=-3&limit=10&highlight=476"> 2q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610359"> Retinitis pigmentosa 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610359"> 610359 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601664"> SNRNP200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601664"> 601664 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/562?start=-3&limit=10&highlight=562"> 2q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613862"> Retinitis pigmentosa 38 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613862"> 613862 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604705"> MERTK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604705"> 604705 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/833?start=-3&limit=10&highlight=833"> 2q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608380"> Retinitis pigmentosa 26 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608380"> 608380 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608381"> CERKL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608381"> 608381 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1127?start=-3&limit=10&highlight=1127"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620228"> Retinitis pigmentosa 96, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620228"> 620228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> SAG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> 181031 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1127?start=-3&limit=10&highlight=1127"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613758"> Retinitis pigmentosa 47, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613758"> 613758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> SAG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> 181031 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/488?start=-3&limit=10&highlight=488"> 3q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613575"> Retinitis pigmentosa 55 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613575"> 613575 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608845"> ARL6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608845"> 608845 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/507?start=-3&limit=10&highlight=507"> 3q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613581"> Retinitis pigmentosa 56 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613581"> 613581 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607056"> IMPG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607056"> 607056 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/670?start=-3&limit=10&highlight=670"> 3q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613731"> Retinitis pigmentosa 4, autosomal dominant or recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613731"> 613731 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180380"> RHO </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180380"> 180380 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/783?start=-3&limit=10&highlight=783"> 3q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614180"> Retinitis pigmentosa 61 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614180"> 614180 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606397"> CLRN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606397"> 606397 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/860?start=-3&limit=10&highlight=860"> 3q26.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615725"> Retinitis pigmentosa 68 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615725"> 615725 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615720"> SLC7A14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615720"> 615720 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/12?start=-3&limit=10&highlight=12"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613801"> Retinitis pigmentosa-40 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613801"> 613801 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180072"> PDE6B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180072"> 180072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/106?start=-3&limit=10&highlight=106"> 4p15.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619845"> Retinitis pigmentosa 93 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619845"> 619845 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> CC2D2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> 612013 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/112?start=-3&limit=10&highlight=112"> 4p15.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612095"> Retinitis pigmentosa 41 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612095"> 612095 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604365"> PROM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604365"> 604365 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/195?start=-3&limit=10&highlight=195"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613756"> Retinitis pigmentosa 49 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613756"> 613756 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123825"> CNGA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123825"> 123825 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/620?start=-3&limit=10&highlight=620"> 4q32-q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> Retinitis pigmentosa 29 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> 612165 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> RP29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> 612165 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/657?start=-3&limit=10&highlight=657"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613810"> Retinitis pigmentosa 43 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613810"> 613810 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180071"> PDE6A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180071"> 180071 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/56?start=-3&limit=10&highlight=56"> 6p24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614181"> Retinitis pigmentosa 62 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614181"> 614181 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154235"> MAK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154235"> 154235 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/430?start=-3&limit=10&highlight=430"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600132"> Retinitis pigmentosa 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600132"> 600132 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602280"> TULP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602280"> 602280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/498?start=-3&limit=10&highlight=498"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613827"> Retinitis pigmentosa 48 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613827"> 613827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602275"> GUCA1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602275"> 602275 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Leber congenital amaurosis 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> PRPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> 179605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Retinitis pigmentosa 7 and digenic form </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> PRPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> 179605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/626?start=-3&limit=10&highlight=626"> 6q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602772"> Retinitis pigmentosa 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602772"> 602772 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612424"> EYS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612424"> 612424 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/659?start=-3&limit=10&highlight=659"> 6q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153870"> Retinitis pigmentosa 91 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153870"> 153870 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602870"> IMPG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602870"> 602870 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/849?start=-3&limit=10&highlight=849"> 6q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> Retinitis pigmentosa 63 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> 614494 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> RP63 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> 614494 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/89?start=-3&limit=10&highlight=89"> 7p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618345"> ?Retinitis pigmentosa 85 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618345"> 618345 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600253"> AHR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600253"> 600253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/111?start=-3&limit=10&highlight=111"> 7p15.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612943"> Retinitis pigmentosa 42 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612943"> 612943 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611119"> KLHL7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611119"> 611119 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/179?start=-3&limit=10&highlight=179"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180104"> ?Retinitis pigmentosa 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180104"> 180104 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607331"> RP9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607331"> 607331 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/651?start=-3&limit=10&highlight=651"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180105"> Retinitis pigmentosa 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180105"> 180105 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146690"> IMPDH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146690"> 146690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/728?start=-3&limit=10&highlight=728"> 7q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618613"> Retinitis pigmentosa 86 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618613"> 618613 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613344"> KIAA1549 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613344"> 613344 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/50?start=-3&limit=10&highlight=50"> 8p23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618826"> Retinitis pigmentosa 88 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618826"> 618826 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608581"> RP1L1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608581"> 608581 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/244?start=-3&limit=10&highlight=244"> 8p11.21-p11.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616544"> Retinitis pigmentosa 73 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616544"> 616544 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> HGSNAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> 610453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/272?start=-3&limit=10&highlight=272"> 8q11.23-q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180100"> Retinitis pigmentosa 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180100"> 180100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603937"> RP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603937"> 603937 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/419?start=-3&limit=10&highlight=419"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> Cone-rod dystrophy 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> 614500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> CFAP418 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> 614477 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/419?start=-3&limit=10&highlight=419"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> Retinitis pigmentosa 64 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> 614500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> CFAP418 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> 614477 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/122?start=-3&limit=10&highlight=122"> 9p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609923"> Retinitis pigmentosa 31 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609923"> 609923 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609507"> TOPORS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609507"> 609507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/429?start=-3&limit=10&highlight=429"> 9q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615922"> Retinitis pigmentosa 70 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615922"> 615922 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607795"> PRPF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607795"> 607795 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/181?start=-3&limit=10&highlight=181"> 10q11.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615233"> ?Retinitis pigmentosa 66 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615233"> 615233 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180290"> RBP3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180290"> 180290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/259?start=-3&limit=10&highlight=259"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619614"> Retinitis pigmentosa 92 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619614"> 619614 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617221"> HKDC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617221"> 617221 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617460"> Retinitis pigmentosa 79 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617460"> 617460 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> HK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> 142600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> Retinitis pigmentosa 65 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> 613660 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> CDHR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> 609502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> Cone-rod dystrophy 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> 613660 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> CDHR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> 609502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> Macular dystrophy, retinal </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> 613660 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> CDHR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> 609502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/349?start=-3&limit=10&highlight=349"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613769"> Retinitis pigmentosa 44 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613769"> 613769 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600342"> RGR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600342"> 600342 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/523?start=-3&limit=10&highlight=523"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618173"> Retinitis pigmentosa 83 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618173"> 618173 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604695"> ARL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604695"> 604695 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/350?start=-3&limit=10&highlight=350"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616469"> Retinitis pigmentosa 72 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616469"> 616469 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616454"> ZNF408 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616454"> 616454 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/455?start=-3&limit=10&highlight=455"> 11q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620996"> Retinitis pigmentosa 98 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620996"> 620996 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> TMEM216 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> 613277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/467?start=-3&limit=10&highlight=467"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> Retinitis pigmentosa, concentric </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> 613194 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> BEST1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> 607854 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/467?start=-3&limit=10&highlight=467"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> Retinitis pigmentosa-50 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> 613194 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> BEST1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> 607854 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/482?start=-3&limit=10&highlight=482"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Retinitis pigmentosa 7, digenic form </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180721"> ROM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180721"> 180721 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/132?start=-3&limit=10&highlight=132"> 13q14.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620422"> ?Retinitis pigmentosa 97 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620422"> 620422 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617509"> VWA8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617509"> 617509 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/107?start=-3&limit=10&highlight=107"> 14q11.2-q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613750"> Retinitis pigmentosa 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613750"> 613750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162080"> NRL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162080"> 162080 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/332?start=-3&limit=10&highlight=332"> 14q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612712"> Leber congenital amaurosis 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612712"> 612712 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608830"> RDH12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608830"> 608830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/406?start=-3&limit=10&highlight=406"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617871"> ?Retinitis pigmentosa 81 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617871"> 617871 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614068"> IFT43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614068"> 614068 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> Leber congenital amaurosis 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> SPATA7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> Retinitis pigmentosa 94, variable age at onset, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> SPATA7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/441?start=-3&limit=10&highlight=441"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613464"> ?Retinitis pigmentosa 51 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613464"> 613464 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608132"> TTC8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608132"> 608132 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/346?start=-3&limit=10&highlight=346"> 15q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611131"> Retinitis pigmentosa 37 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611131"> 611131 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604485"> NR2E3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604485"> 604485 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/422?start=-3&limit=10&highlight=422"> 15q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619007"> Retinitis pigmentosa 90 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619007"> 619007 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601149"> IDH3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601149"> 601149 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/67?start=-3&limit=10&highlight=67"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617781"> Retinitis pigmentosa 80 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617781"> 617781 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614620"> IFT140 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614620"> 614620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/227?start=-3&limit=10&highlight=227"> 16p12.3-p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> Retinitis pigmentosa 22 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> 602594 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> RP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> 602594 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/454?start=-3&limit=10&highlight=454"> 16q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616562"> Retinitis pigmentosa 74 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616562"> 616562 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606151"> BBS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606151"> 606151 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/478?start=-3&limit=10&highlight=478"> 16q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615434"> Retinitis pigmentosa 82 with or without situs inversus </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615434"> 615434 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615407"> ARL2BP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615407"> 615407 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/494?start=-3&limit=10&highlight=494"> 16q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613767"> Retinitis pigmentosa 45 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613767"> 613767 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600724"> CNGB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600724"> 600724 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/628?start=-3&limit=10&highlight=628"> 16q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618220"> Retinitis pigmentosa 84 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618220"> 618220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605584"> DHX38 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605584"> 605584 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/31?start=-3&limit=10&highlight=31"> 17p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600059"> Retinitis pigmentosa 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600059"> 600059 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607300"> PRPF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607300"> 607300 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/817?start=-3&limit=10&highlight=817"> 17q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> Retinitis pigmentosa 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> 600852 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> RP17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> 600852 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/977?start=-3&limit=10&highlight=977"> 17q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610599"> Retinitis pigmentosa 36 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610599"> 610599 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610598"> PRCD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610598"> 610598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1032?start=-3&limit=10&highlight=1032"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607921"> Retinitis pigmentosa 30 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607921"> 607921 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607643"> FSCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607643"> 607643 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1035?start=-3&limit=10&highlight=1035"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613582"> Retinitis pigmentosa 57 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613582"> 613582 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180073"> PDE6G </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180073"> 180073 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/57?start=-3&limit=10&highlight=57"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617304"> Retinitis pigmentosa 77 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617304"> 617304 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609346"> REEP6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609346"> 609346 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/117?start=-3&limit=10&highlight=117"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620102"> Retinitis pigmentosa 95 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620102"> 620102 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610362"> RAX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610362"> 610362 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/203?start=-3&limit=10&highlight=203"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617433"> Retinitis pigmentosa 78 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617433"> 617433 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616432"> ARHGEF18 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616432"> 616432 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1120?start=-3&limit=10&highlight=1120"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600138"> Retinitis pigmentosa 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600138"> 600138 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606419"> PRPF31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606419"> 606419 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/37?start=-3&limit=10&highlight=37"> 20p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612572"> Retinitis pigmentosa 46 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612572"> 612572 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604526"> IDH3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604526"> 604526 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/136?start=-3&limit=10&highlight=136"> 20p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615780"> Retinitis pigmentosa 69 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615780"> 615780 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615757"> KIZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615757"> 615757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/199?start=-3&limit=10&highlight=199"> 20q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618955"> Retinitis pigmentosa 89 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618955"> 618955 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603754"> KIF3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603754"> 603754 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/490?start=-3&limit=10&highlight=490"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613983"> Retinitis pigmentosa 60 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613983"> 613983 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613979"> PRPF6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613979"> 613979 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/70?start=-3&limit=10&highlight=70"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300424"> ?Retinitis pigmentosa 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300424"> 300424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300170"> OFD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300170"> 300170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/131?start=-3&limit=10&highlight=131"> Xp21.3-p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> ?Retinitis pigmentosa, X-linked recessive, 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> 312612 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> RP6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> 312612 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/168?start=-3&limit=10&highlight=168"> Xp11.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300029"> Retinitis pigmentosa 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300029"> 300029 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312610"> RPGR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312610"> 312610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/206?start=-3&limit=10&highlight=206"> Xp11.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312600"> Retinitis pigmentosa 2 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/312600"> 312600 </a>
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<a href="/entry/300757"> RP2 </a>
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<a href="/entry/300757"> 300757 </a>
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<a href="/entry/300155"> Retinitis pigmentosa 24 </a>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/300155"> 300155 </a>
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<a href="/entry/300155"> RP24 </a>
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<span class="mim-font">
<a href="/entry/300155"> 300155 </a>
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<a href="/geneMap/X/778?start=-3&limit=10&highlight=778"> Xq28 </a>
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<a href="/entry/300605"> Retinitis pigmentosa 34 </a>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/300605"> 300605 </a>
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<a href="/entry/300605"> RP34 </a>
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<a href="/entry/300605"> 300605 </a>
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<a href="/entry/400004"> Retinitis pigmentosa, Y-linked </a>
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<abbr class="mim-tip-hint" title="Y-linked">YL</abbr>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/400004"> 400004 </a>
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<a href="/entry/400004"> RPY </a>
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<span class="mim-font">
<a href="/entry/400004"> 400004 </a>
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Not Mapped
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<a href="/entry/268000"> Retinitis pigmentosa </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/268000"> 268000 </a>
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<a href="/entry/268000"> RP </a>
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<span class="mim-font">
<a href="/entry/268000"> 268000 </a>
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<p>A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-23 (RP23) is caused by mutation in the OFD1 gene (<a href="/entry/300170">300170</a>) on chromosome Xp22. One such family has been reported.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see <a href="/entry/268000">268000</a>.</p>
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<p><a href="#1" class="mim-tip-reference" title="Hardcastle, A. J., Thiselton, D. L., Zito, I., Ebenezer, N., Mah, T. S., Gorin, M. B., Bhattacharya, S. S. &lt;strong&gt;Evidence for a new locus for X-linked retinitis pigmentosa (RP23).&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 41: 2080-2086, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10892847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10892847&lt;/a&gt;]" pmid="10892847">Hardcastle et al. (2000)</a> studied a 5-generation family with an atypical form of retinitis pigmentosa (RP) in which onset of vision loss in males was unusually early, before 2 years of age, and female obligate carriers had normal fundi and waveforms. The proband presented with limited central vision and poor night vision at age 2 years. Upon examination he was able to fix and follow with both eyes; funduscopy showed abnormal grayish macular reflexes and extensive whitish-gray spots throughout the midperiphery of the posterior pole with some areas of coalescence. Examination at 6 years of age revealed eccentric fixation, with visual acuities in the 20/800 range; funduscopy was unchanged except for evidence of retinal arteriole attenuation. At 11 years of age, the boy's visual acuity was limited to counting fingers at 2 to 3 feet and he had markedly constricted peripheral vision; changes in the retinal pigment epithelium (RPE) were nearly confluent in the midperiphery, with small areas of atrophy and a few small patches of intraretinal pigment; retinal arterioles were clearly attenuated in all quadrants, without optic nerve pallor. The proband's maternal uncle was examined at age 21 years and had nondetectable electroretinography (ERG) recordings bilaterally, abnormal color vision, and only residual temporal and inferior fields of vision. Funduscopic examination showed absence of foveal reflexes bilaterally, diffuse granularity of the RPE in the central macula, and moderate intraretinal pigment in the midperiphery. At 35 years of age, visual acuity had deteriorated to hand motion for both eyes, with relatively unchanged fundi except for more notable areas of RPE atrophy and increased amounts of intraretinal pigment in the periphery. In addition, posterior subcapsular cataracts were now detected. The proband's mother and maternal grandmother, both obligate carriers for the condition, had completely normal funduscopic examinations and normal waveforms on ERG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10892847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Mapping</strong>
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<p>By haplotype and linkage analysis in a family segregating retinitis pigmentosa, <a href="#1" class="mim-tip-reference" title="Hardcastle, A. J., Thiselton, D. L., Zito, I., Ebenezer, N., Mah, T. S., Gorin, M. B., Bhattacharya, S. S. &lt;strong&gt;Evidence for a new locus for X-linked retinitis pigmentosa (RP23).&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 41: 2080-2086, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10892847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10892847&lt;/a&gt;]" pmid="10892847">Hardcastle et al. (2000)</a> found linkage of the disorder to a locus on Xp22, which they designated RP23. Recombination events narrowed the critical interval to an approximately 15-cM region between markers DXS1223 and DXS7161 at Xp22.32-p22.13. The authors stated that disease in this family was clinically distinct from that described by <a href="#2" class="mim-tip-reference" title="McGuire, R. E., Sullivan, L. S., Blanton, S. H., Church, M. W., Heckenlively, J. R., Daiger, S. P. &lt;strong&gt;X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11.&lt;/strong&gt; Am. J. Hum. Genet. 57: 87-94, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7611300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7611300&lt;/a&gt;]" pmid="7611300">McGuire et al. (1995)</a> (see RP3, <a href="/entry/300029">300029</a>) and segregated with more distal markers on chromosome Xp. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7611300+10892847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the proband from the 5-generation family with X-linked retinitis pigmentosa previously studied by <a href="#1" class="mim-tip-reference" title="Hardcastle, A. J., Thiselton, D. L., Zito, I., Ebenezer, N., Mah, T. S., Gorin, M. B., Bhattacharya, S. S. &lt;strong&gt;Evidence for a new locus for X-linked retinitis pigmentosa (RP23).&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 41: 2080-2086, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10892847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10892847&lt;/a&gt;]" pmid="10892847">Hardcastle et al. (2000)</a>, <a href="#3" class="mim-tip-reference" title="Webb, T. R., Parfitt, D. A., Gardner, J. C., Martinez, A., Bevilacqua, D., Davidson, A. E., Zito, I., Thiselton, D. L., Ressa, J. H. C., Apergi, M., Schwarz, N., Kanuga, N., Michaelides, M., Cheetham, M. E., Gorin, M. B., Hardcastle, A. J. &lt;strong&gt;Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).&lt;/strong&gt; Hum. Molec. Genet. 21: 3647-3654, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22619378/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22619378&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22619378[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/dds194&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22619378">Webb et al. (2012)</a> performed targeted genomic next-generation sequencing for the entire RP23 disease interval and identified an intronic variant in the OFD1 gene (<a href="/entry/300170#0011">300170.0011</a>) that segregated with disease in the family and was not found in 220 control chromosomes. Screening for the intronic OFD1 mutation in 11 unrelated male patients with X-linked RP, in whom mutation in the RPGR (<a href="/entry/312610">312610</a>) and RP2 (<a href="/entry/300757">300757</a>) genes had previously been excluded, did not detect the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22619378+10892847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
In a 5-generation family with retinitis pigmentosa mapping to chromosome Xp22.32-p22.13, <a href="#1" class="mim-tip-reference" title="Hardcastle, A. J., Thiselton, D. L., Zito, I., Ebenezer, N., Mah, T. S., Gorin, M. B., Bhattacharya, S. S. &lt;strong&gt;Evidence for a new locus for X-linked retinitis pigmentosa (RP23).&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 41: 2080-2086, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10892847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10892847&lt;/a&gt;]" pmid="10892847">Hardcastle et al. (2000)</a> sequenced the candidate gene RS1 (<a href="/entry/300839">300839</a>) but found no mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10892847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="1" class="mim-anchor"></a>
<a id="Hardcastle2000" class="mim-anchor"></a>
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Hardcastle, A. J., Thiselton, D. L., Zito, I., Ebenezer, N., Mah, T. S., Gorin, M. B., Bhattacharya, S. S.
<strong>Evidence for a new locus for X-linked retinitis pigmentosa (RP23).</strong>
Invest. Ophthal. Vis. Sci. 41: 2080-2086, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10892847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10892847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10892847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="2" class="mim-anchor"></a>
<a id="McGuire1995" class="mim-anchor"></a>
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McGuire, R. E., Sullivan, L. S., Blanton, S. H., Church, M. W., Heckenlively, J. R., Daiger, S. P.
<strong>X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11.</strong>
Am. J. Hum. Genet. 57: 87-94, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7611300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7611300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7611300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Webb2012" class="mim-anchor"></a>
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Webb, T. R., Parfitt, D. A., Gardner, J. C., Martinez, A., Bevilacqua, D., Davidson, A. E., Zito, I., Thiselton, D. L., Ressa, J. H. C., Apergi, M., Schwarz, N., Kanuga, N., Michaelides, M., Cheetham, M. E., Gorin, M. B., Hardcastle, A. J.
<strong>Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).</strong>
Hum. Molec. Genet. 21: 3647-3654, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22619378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22619378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22619378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22619378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/dds194" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 03/10/2014
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Victor A. McKusick : 3/3/2003
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carol : 3/10/2014<br>mcolton : 3/7/2014<br>alopez : 3/30/2011<br>alopez : 2/19/2009<br>carol : 3/18/2004<br>carol : 3/3/2003<br>carol : 3/3/2003
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<strong>#</strong> 300424
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RETINITIS PIGMENTOSA 23; RP23
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<strong>ORPHA:</strong> 791; &nbsp;
<strong>DO:</strong> 0110412; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
Xp22.2
</span>
</td>
<td>
<span class="mim-font">
?Retinitis pigmentosa 23
</span>
</td>
<td>
<span class="mim-font">
300424
</span>
</td>
<td>
<span class="mim-font">
X-linked recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
OFD1
</span>
</td>
<td>
<span class="mim-font">
300170
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-23 (RP23) is caused by mutation in the OFD1 gene (300170) on chromosome Xp22. One such family has been reported.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hardcastle et al. (2000) studied a 5-generation family with an atypical form of retinitis pigmentosa (RP) in which onset of vision loss in males was unusually early, before 2 years of age, and female obligate carriers had normal fundi and waveforms. The proband presented with limited central vision and poor night vision at age 2 years. Upon examination he was able to fix and follow with both eyes; funduscopy showed abnormal grayish macular reflexes and extensive whitish-gray spots throughout the midperiphery of the posterior pole with some areas of coalescence. Examination at 6 years of age revealed eccentric fixation, with visual acuities in the 20/800 range; funduscopy was unchanged except for evidence of retinal arteriole attenuation. At 11 years of age, the boy's visual acuity was limited to counting fingers at 2 to 3 feet and he had markedly constricted peripheral vision; changes in the retinal pigment epithelium (RPE) were nearly confluent in the midperiphery, with small areas of atrophy and a few small patches of intraretinal pigment; retinal arterioles were clearly attenuated in all quadrants, without optic nerve pallor. The proband's maternal uncle was examined at age 21 years and had nondetectable electroretinography (ERG) recordings bilaterally, abnormal color vision, and only residual temporal and inferior fields of vision. Funduscopic examination showed absence of foveal reflexes bilaterally, diffuse granularity of the RPE in the central macula, and moderate intraretinal pigment in the midperiphery. At 35 years of age, visual acuity had deteriorated to hand motion for both eyes, with relatively unchanged fundi except for more notable areas of RPE atrophy and increased amounts of intraretinal pigment in the periphery. In addition, posterior subcapsular cataracts were now detected. The proband's mother and maternal grandmother, both obligate carriers for the condition, had completely normal funduscopic examinations and normal waveforms on ERG. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By haplotype and linkage analysis in a family segregating retinitis pigmentosa, Hardcastle et al. (2000) found linkage of the disorder to a locus on Xp22, which they designated RP23. Recombination events narrowed the critical interval to an approximately 15-cM region between markers DXS1223 and DXS7161 at Xp22.32-p22.13. The authors stated that disease in this family was clinically distinct from that described by McGuire et al. (1995) (see RP3, 300029) and segregated with more distal markers on chromosome Xp. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In the proband from the 5-generation family with X-linked retinitis pigmentosa previously studied by Hardcastle et al. (2000), Webb et al. (2012) performed targeted genomic next-generation sequencing for the entire RP23 disease interval and identified an intronic variant in the OFD1 gene (300170.0011) that segregated with disease in the family and was not found in 220 control chromosomes. Screening for the intronic OFD1 mutation in 11 unrelated male patients with X-linked RP, in whom mutation in the RPGR (312610) and RP2 (300757) genes had previously been excluded, did not detect the variant. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
In a 5-generation family with retinitis pigmentosa mapping to chromosome Xp22.32-p22.13, Hardcastle et al. (2000) sequenced the candidate gene RS1 (300839) but found no mutations. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Hardcastle, A. J., Thiselton, D. L., Zito, I., Ebenezer, N., Mah, T. S., Gorin, M. B., Bhattacharya, S. S.
<strong>Evidence for a new locus for X-linked retinitis pigmentosa (RP23).</strong>
Invest. Ophthal. Vis. Sci. 41: 2080-2086, 2000.
[PubMed: 10892847]
</p>
</li>
<li>
<p class="mim-text-font">
McGuire, R. E., Sullivan, L. S., Blanton, S. H., Church, M. W., Heckenlively, J. R., Daiger, S. P.
<strong>X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11.</strong>
Am. J. Hum. Genet. 57: 87-94, 1995.
[PubMed: 7611300]
</p>
</li>
<li>
<p class="mim-text-font">
Webb, T. R., Parfitt, D. A., Gardner, J. C., Martinez, A., Bevilacqua, D., Davidson, A. E., Zito, I., Thiselton, D. L., Ressa, J. H. C., Apergi, M., Schwarz, N., Kanuga, N., Michaelides, M., Cheetham, M. E., Gorin, M. B., Hardcastle, A. J.
<strong>Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).</strong>
Hum. Molec. Genet. 21: 3647-3654, 2012.
[PubMed: 22619378]
[Full Text: https://doi.org/10.1093/hmg/dds194]
</p>
</li>
</ol>
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Contributors:
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Marla J. F. O&#x27;Neill - updated : 03/10/2014
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Creation Date:
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Victor A. McKusick : 3/3/2003
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