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Entry
- #310600 - NORRIE DISEASE; ND
- OMIM
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<span class="h4">#310600</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/310600"><strong>Clinical Synopsis</strong></a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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<div><a href="https://clinicaltrials.gov/search?cond=NORRIE DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=190&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>
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</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060844" 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/310600" 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>
<div><a href="https://omia.org/results?search_type=advanced&omia_id=002189,002348" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</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="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
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</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:310600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
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</div>
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</div>
</div>
<span>
<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;
</span>
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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>SNOMEDCT:</strong> 15228007<br />
<strong>ORPHA:</strong> 649<br />
<strong>DO:</strong> 0060844<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>
310600
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
NORRIE DISEASE; ND
</span>
</h3>
</div>
<div>
<br />
</div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ATROPHIA BULBORUM HEREDITARIA<br />
EPISKOPI BLINDNESS
</span>
</h4>
</div>
</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/194?start=-3&limit=10&highlight=194">
Xp11.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Norrie disease
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310600"> 310600 </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">
NDP
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300658"> 300658 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/310600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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&nbsp;
<div class="btn-group">
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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/310600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/310600" 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> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sensorineural deafness (onset in the second decade in 25 to 30% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intraocular retrolental masses, bilateral ('pseudoglioma') <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970768</a>]</span><br /> -
Blindness in infancy or very early childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970769&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970769</a>]</span><br /> -
Retinal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37480005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37480005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0229197&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229197</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008052</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008052</a>]</span><br /> -
Retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br /> -
Phthisical globe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970770&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970770</a>]</span><br /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Retinal dysgenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95494009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95494009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035313</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007973</a>]</span><br /> -
Retinal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95494009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95494009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035313</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007973</a>]</span><br /> -
Vitreal opacities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970772</a>]</span><br /> -
Corneal opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
Shallow anterior chamber <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246986004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246986004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423276</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000594" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000594</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000594" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000594</a>]</span><br /> -
Histopathology shows rosettes of immature retinal cells in vascular connective tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970773</a>]</span><br /> -
Hyperplastic vitreous <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970774</a>]</span><br /> -
Hypoplastic iris <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95714006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95714006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344539</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007676</a>]</span><br /> -
Iris synechiae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78778007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78778007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H21.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H21.50</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/364.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">364.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154933&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154933</a>]</span><br /> -
Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br />
</span>
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<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation, progressive (50% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006887" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006887</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006887" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006887</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span><br /> -
Dementia (later onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848565</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
Seizures (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
</span>
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</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Psychosis (25% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191525009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191525009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69322001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69322001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F29</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/298.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">298.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290-299.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290-299.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349204</a>, <a href="https://bioportal.bioontology.org/search?q=C0033975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span><br /> -
Hallucinations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7011001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span><br /> -
Aggressive behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br />
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<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Eye involvement begins at birth, neurologic involvement begins later<br />
</span>
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<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 norrin cystine knot growth factor gene (NDP, <a href="/entry/300658#0001">300658.0001</a>)<br />
</span>
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<p>A number sign (#) is used with this entry because Norrie disease (ND) is caused by mutation in the NDP gene (<a href="/entry/300658">300658</a>), which encodes norrin, on chromosome Xp11.</p>
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<p>Norrie disease (ND) is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (<a href="#3" class="mim-tip-reference" title="Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T. &lt;strong&gt;Isolation of a candidate gene for Norrie disease by positional cloning.&lt;/strong&gt; Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303235/&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;1303235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0692-199&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="1303235">Berger et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303235" 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><a href="#54" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Copenhagen, Denmark 1966."None>Warburg (1966)</a> noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (see <a href="#14" class="mim-tip-reference" title="Duke, J. R. &lt;strong&gt;Pseudoglioma in children: aspects of clinical and pathological diagnosis.&lt;/strong&gt; Sth. Med. J. 51: 754-759, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13556184/&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;13556184&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00007611-195806000-00013&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="13556184">Duke, 1958</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13556184" 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>Clinical Features</strong>
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<p><a href="#51" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Norrie&#x27;s disease: a new hereditary bilateral pseudotumour of the retina.&lt;/strong&gt; Acta Ophthal. (Copenh.) 39: 757-772, 1961."None>Warburg (1961)</a> reported 7 cases of a hereditary degenerative disease in 7 generations of a Danish family. The proband was a 12-month-old boy who was normal except for lens opacities found at initial examination at 3 months of age. He had atrophic irides and the fundus was filled with a proliferating retrolental yellowish mass. At 8 months of age, the left eye was enucleated on suspicion of retinoblastoma. Histologic examination showed a hemorrhagic necrotic mass in the posterior chamber, surrounded by undifferentiated glial tissue. Histologic diagnosis was pseudotumor of the retina, retinal hyperplasia, hyperplasia of retinal, ciliary, and iris pigment epithelium, hypoplasia and necrosis of the inner layer of the retina, cataract, and phthisis bulbi. Six relatives had a similar ocular disease. Deafness developed in 5 of these 7 patients in later years, and 4 patients had decreased mental capacity. <a href="#51" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Norrie&#x27;s disease: a new hereditary bilateral pseudotumour of the retina.&lt;/strong&gt; Acta Ophthal. (Copenh.) 39: 757-772, 1961."None>Warburg (1961)</a> found 48 similar cases in 9 families described in the literature under different categories which she believed belonged to this disease. She suggested that the disorder be named for Gordon <a href="#38" class="mim-tip-reference" title="Norrie, G. &lt;strong&gt;Nogle Blindhedsaarsager: en oversigt.&lt;/strong&gt; Hospitalstidende 76: 141-147, 1933."None>Norrie (1933)</a>.</p><p><a href="#47" class="mim-tip-reference" title="Taylor, P. J., Coates, T., Newhouse, M. L. &lt;strong&gt;Episkopi blindness: hereditary blindness in a Greek Cypriot family.&lt;/strong&gt; Brit. J. Ophthal. 43: 340-344, 1959.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13662558/&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;13662558&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.43.6.340&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="13662558">Taylor et al. (1959)</a> reported a Greek family with this condition living in Episkopi in Cyprus, where the disorder was known as 'Episkopi blindness.' The published pedigree showed 16 affected males in 5 generations. All affected males were mentally retarded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13662558" 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><a href="#41" class="mim-tip-reference" title="Roberts, J. A. F. &lt;strong&gt;Sex-linked microphthalmia sometimes associated with mental defect.&lt;/strong&gt; Brit. Med. J. 2: 1213-1216, 1937.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20781115/&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;20781115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bmj.2.4015.1213&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="20781115">Roberts (1937)</a> described a pedigree, originally reported in part by <a href="#2" class="mim-tip-reference" title="Ash, W. M. &lt;strong&gt;Hereditary microphthalmia.&lt;/strong&gt; Brit. Med. J. 1: 558-559, 1922.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20770671/&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;20770671&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bmj.1.3197.558&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="20770671">Ash (1922)</a>, in which 14 males over 4 generations had microphthalmia. Affected individuals had white patches on the cornea; 2 also had cataract and 5 had nystagmus. Of the 10 individuals for which information was available, 7 were mentally retarded and 3 had normal or above-average intelligence; there was no mental retardation in the family apart from microphthalmic individuals. <a href="#48" class="mim-tip-reference" title="Waardenburg, P. J., Franceschetti, A., Klein, D. &lt;strong&gt;Genetics and Ophthalmology. Vol. 1.&lt;/strong&gt; Assen, The Netherlands: Royal Van Gorcum 1961. Pp. 768-770."None>Waardenburg et al. (1961)</a> thought that the cases reported by <a href="#41" class="mim-tip-reference" title="Roberts, J. A. F. &lt;strong&gt;Sex-linked microphthalmia sometimes associated with mental defect.&lt;/strong&gt; Brit. Med. J. 2: 1213-1216, 1937.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20781115/&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;20781115&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bmj.2.4015.1213&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="20781115">Roberts (1937)</a> had pseudoglioma or retinal dysplasia with secondary microphthalmia. <a href="#54" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Copenhagen, Denmark 1966."None>Warburg (1966)</a> later stated that the affected persons in Roberts' pedigree were clearly instances of Norrie disease. In only about half of the cases was the eye microphthalmic, or more precisely, phthisical. Histologic study of the eye in 1 mentally retarded blind boy from this family (<a href="#55" class="mim-tip-reference" title="Whitnall, S. E., Norman, R. M. &lt;strong&gt;Microphthalmia and the visual pathways: a case associated with blindness and imbecility, and sex-linked.&lt;/strong&gt; Brit. J. Ophthal. 24: 229-244, 1940.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18169694/&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;18169694&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.24.5.229&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="18169694">Whitnall and Norman, 1940</a>) showed changes like those observed by <a href="#54" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Copenhagen, Denmark 1966."None>Warburg (1966)</a> in Norrie disease, with small optic nerves and lateral geniculate bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18169694+20781115+20770671" 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><a href="#46" class="mim-tip-reference" title="Stephens, F. E. &lt;strong&gt;A case of sex-linked microphthalmia.&lt;/strong&gt; J. Hered. 38: 307-310, 1947.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18900295/&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;18900295&lt;/a&gt;]" pmid="18900295">Stephens (1947)</a> reported a family in which 7 males over 4 generations had isolated microphthalmia. The 2 patients who were examined also had sclerocornea. Because the phenotype was transmitted only by normal mothers to their sons, <a href="#46" class="mim-tip-reference" title="Stephens, F. E. &lt;strong&gt;A case of sex-linked microphthalmia.&lt;/strong&gt; J. Hered. 38: 307-310, 1947.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18900295/&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;18900295&lt;/a&gt;]" pmid="18900295">Stephens (1947)</a> suggested that it represented a sex-linked recessive trait. <a href="#53" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Norrie&#x27;s disease, a congenital progressive oculo-acoustico-cerebral degeneration.&lt;/strong&gt; Acta Ophthal. (Copenh.) 89 (suppl.): 1-147, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6013082/&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;6013082&lt;/a&gt;]" pmid="6013082">Warburg (1966)</a> noted that Stephens' patients were difficult to evaluate because they were rather old at the time of first examination and information was limited to the facts that the eyes were small and corneas cloudy, but she suggested that these patients may have had Norrie disease. In an extensive pedigree from a Canadian Indian group reported by <a href="#56" class="mim-tip-reference" title="Wilson, W. M. G. &lt;strong&gt;Congenital blindness (pseudoglioma) occurring as a sex-linked developmental anomaly.&lt;/strong&gt; Canad. Med. Assoc. J. 60: 580-584, 1949.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18134442/&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;18134442&lt;/a&gt;]" pmid="18134442">Wilson (1949)</a>, histologic changes were similar to those of ND. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18134442+18900295+6013082" 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>In the family reported by <a href="#16" class="mim-tip-reference" title="Forssman, H. &lt;strong&gt;Mental deficiency and pseudoglioma, a syndrome inherited as an X-linked recessive.&lt;/strong&gt; Am. J. Ment. Defic. 64: 984-987, 1960."None>Forssman (1960)</a>, 'pseudoglioma' was combined with progressive mental deficiency present from infancy. These patients were first described by <a href="#10" class="mim-tip-reference" title="Dahlberg-Parrow, R. &lt;strong&gt;Congenital sex-linked pseudoglioma and grave mental deficiency.&lt;/strong&gt; Acta Ophthal. 34: 250-254, 1956.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13372212/&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;13372212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1755-3768.1956.tb03358.x&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="13372212">Dahlberg-Parrow (1956)</a>. Three of the blind boys were reexamined by <a href="#54" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Copenhagen, Denmark 1966."None>Warburg (1966)</a>, who concluded that the histories and ocular findings were typical of ND. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13372212" 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><a href="#52" class="mim-tip-reference" title="Warburg, M. &lt;strong&gt;Norrie&#x27;s disease (atrofia bulborum hereditaria).&lt;/strong&gt; Acta Ophthal. 41: 134-146, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13998843/&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;13998843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1755-3768.1963.tb03533.x&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="13998843">Warburg (1963)</a> presented 2 new families with 11 patients with Norrie disease. Patients examined varied from 2 months to 58 years of age. Earliest examinations showed pseudoglioma, synechiae, and atrophy of the iris. Blindness was found during the first month of life. Cataracts were observed by 8 months, and by 10 years, the eyes were atrophic with band-shaped corneal degeneration and dense cataract. The atrophy had advanced to opaque white cornea, obliterated anterior chamber, atrophic white iris, and cataractous lens by age 50 years. Though some afflicted had normal intelligence, many were mentally deficient. The mental retardation was a deterioration inasmuch as the affected infants seemed to be normal for the first 1 to 2 years. Five of 9 in 1 family were hard of hearing and 2 of these 5 had diabetes. The mode of inheritance in both families was X-linked recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13998843" 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><a href="#25" class="mim-tip-reference" title="Johnston, S. S., Hanna, J. E., Nevin, N. C., Bryars, J. H. &lt;strong&gt;Norrie&#x27;s disease.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 18(6): 729-738, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6890861/&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;6890861&lt;/a&gt;]" pmid="6890861">Johnston et al. (1982)</a> described 2 Irish families with 8 affected males. <a href="#21" class="mim-tip-reference" title="Harendra de Silva, D. G., de Silva, D. B. K. &lt;strong&gt;Norrie&#x27;s disease in an Asian family.&lt;/strong&gt; Brit. J. Ophthal. 72: 62-64, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3342220/&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;3342220&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.72.1.62&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="3342220">Harendra de Silva and de Silva (1988)</a> described an extensively affected family in Sri Lanka. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3342220+6890861" 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><a href="#58" class="mim-tip-reference" title="Woodruff, G., Newbury-Ecob, R., Plaha, D. S., Young, I. D. &lt;strong&gt;Manifesting heterozygosity in Norrie&#x27;s disease?.&lt;/strong&gt; Brit. J. Ophthal. 77: 813-814, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8110678/&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;8110678&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.77.12.813&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="8110678">Woodruff et al. (1993)</a> reported a 2-year-old girl who showed severe visual impairment resulting from cataract and total retinal detachment in the right eye with a vascularized mass behind the lens, and in the left eye a retinal fold and traction retinal detachment in the temporal periphery. She had a brother and 2 maternal uncles with Norrie disease. <a href="#58" class="mim-tip-reference" title="Woodruff, G., Newbury-Ecob, R., Plaha, D. S., Young, I. D. &lt;strong&gt;Manifesting heterozygosity in Norrie&#x27;s disease?.&lt;/strong&gt; Brit. J. Ophthal. 77: 813-814, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8110678/&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;8110678&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.77.12.813&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="8110678">Woodruff et al. (1993)</a> suggested that she was an example of a manifesting heterozygote. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8110678" 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><a href="#28" class="mim-tip-reference" title="Lev, D., Weigl, Y., Hasan, M., Gak, E., Davidovich, M., Vinkler, C., Leshinsky-Silver, E., Lerman-Sagie, T., Watemberg, N. &lt;strong&gt;A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.&lt;/strong&gt; Am. J. Med. Genet. 143A: 921-924, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17334993/&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;17334993&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31531&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="17334993">Lev et al. (2007)</a> reported a male infant with Norrie disease. At birth, he was noted to have abnormal red reflex of both eyes with bilateral vitreal opacities. CT imaging of the eyes showed small lenses attached to the cornea, opacification of the lenses, corneal opacities, and synechiae. Pars plana vitrectomy and lensectomy was performed. At age 11 months, he developed myoclonic jerks and irritability. He had significant developmental delay. Over the next few months, he continued to have seizures and showed profound mental retardation. Genetic analysis identified a mutation in the NDP gene (<a href="/entry/300658#0019">300658.0019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17334993" 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>
</span>
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<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#50" class="mim-tip-reference" title="Warburg, M., Hauge, M., Sanger, R. &lt;strong&gt;Norrie&#x27;s disease and the Xg blood group system: linkage data.&lt;/strong&gt; Acta Genet. Statist. Med. 15: 103-115, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14300021/&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;14300021&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000151898&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="14300021">Warburg et al. (1965)</a> demonstrated no linkage of Norrie disease with the Xg blood groups. <a href="#33" class="mim-tip-reference" title="Moreira-Filho, C. A., Neustein, I. &lt;strong&gt;A presumptive new variant of Norrie&#x27;s disease.&lt;/strong&gt; J. Med. Genet. 16: 125-128, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/572429/&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;572429&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.16.2.125&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="572429">Moreira-Filho and Neustein (1979)</a> described 6 brothers with what they viewed as a variant of Norrie disease because microcephaly was present in all. Negative lod scores were obtained for linkage with Xg. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=572429+14300021" 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><a href="#17" class="mim-tip-reference" title="Gal, A., Bleeker-Wagemakers, L., Wienker, T. F., Warburg, M., Ropers, H.-H. &lt;strong&gt;Localization of the gene for Norrie disease by linkage to the DXS7 locus. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 40: 633, 1985."None>Gal et al. (1985)</a> found close linkage of Norrie disease to the L1.28/TaqI RFLP, DXS7 (maximum lod = 3.50 at theta = 0.00) on the X chromosome, suggesting that ND may be in or slightly proximal to band Xp11.3 and near a locus for retinitis pigmentosa (RP2; <a href="/entry/300757">300757</a>). <a href="#17" class="mim-tip-reference" title="Gal, A., Bleeker-Wagemakers, L., Wienker, T. F., Warburg, M., Ropers, H.-H. &lt;strong&gt;Localization of the gene for Norrie disease by linkage to the DXS7 locus. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 40: 633, 1985."None>Gal et al. (1985)</a> found a peak lod score of 4.1 at theta = 0.00 for linkage with DXS7, which had been localized to Xp11.3. See <a href="#5" class="mim-tip-reference" title="Bleeker-Wagemakers, L. M., Friedrich, U., Gal, A., Wienker, T. F., Warburg, M., Ropers, H.-H. &lt;strong&gt;Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.&lt;/strong&gt; Hum. Genet. 71: 211-214, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2998969/&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;2998969&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00284575&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="2998969">Bleeker-Wagemakers et al. (1985)</a> for the full data. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2998969" 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><a href="#27" class="mim-tip-reference" title="Kivlin, J. D., Sanborn, G. E., Wright, E., Cannon, L., Carey, J. &lt;strong&gt;Further linkage data on Norrie disease.&lt;/strong&gt; Am. J. Med. Genet. 26: 733-736, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3565487/&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;3565487&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260329&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="3565487">Kivlin et al. (1987)</a> stated that no recombination had been identified between ND and the DNA marker L1.28; with their data, the total lod score became 5.42. <a href="#37" class="mim-tip-reference" title="Ngo, J. T., Spence, M. A., Cortessis, V., Sparkes, R. S., Bateman, J. B. &lt;strong&gt;Recombinational event between Norrie disease and DXS7 loci.&lt;/strong&gt; Clin. Genet. 34: 43-47, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2900708/&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;2900708&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb02614.x&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="2900708">Ngo et al. (1988)</a> and <a href="#26" class="mim-tip-reference" title="Katayama, S., Wohlferd, M., Golbus, M. S. &lt;strong&gt;First demonstration of recombination between the gene for Norrie disease and probe L1.28.&lt;/strong&gt; Am. J. Med. Genet. 30: 967-970, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3189417/&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;3189417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320300415&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="3189417">Katayama et al. (1988)</a> found the first recombinant between Norrie disease and the DXS7 locus. The addition of their family brought a total of published informative families to 7, with a maximum lod score of 7.58 at a recombination fraction of 0.038. They stated the assignment of the DXS7 locus (defined by probe L1.28) as Xp11.3-p11.2. <a href="#35" class="mim-tip-reference" title="Ngo, J., Spence, M. A., Cortessis, V., Bateman, J. B., Sparkes, R. S. &lt;strong&gt;Duplicate report crossing over in Norrie disease family. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 33: 286, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2764042/&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;2764042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330231&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="2764042">Ngo et al. (1989)</a> pointed out that a single recombination event had been reported twice (<a href="#37" class="mim-tip-reference" title="Ngo, J. T., Spence, M. A., Cortessis, V., Sparkes, R. S., Bateman, J. B. &lt;strong&gt;Recombinational event between Norrie disease and DXS7 loci.&lt;/strong&gt; Clin. Genet. 34: 43-47, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2900708/&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;2900708&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb02614.x&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="2900708">Ngo et al., 1988</a>; <a href="#26" class="mim-tip-reference" title="Katayama, S., Wohlferd, M., Golbus, M. S. &lt;strong&gt;First demonstration of recombination between the gene for Norrie disease and probe L1.28.&lt;/strong&gt; Am. J. Med. Genet. 30: 967-970, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3189417/&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;3189417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320300415&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="3189417">Katayama et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2764042+2900708+3565487+3189417" 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><a href="#19" class="mim-tip-reference" title="Gal, A., Uhlhaas, S., Glaser, D., Grimm, T. &lt;strong&gt;Prenatal exclusion of Norrie disease with flanking DNA markers.&lt;/strong&gt; Am. J. Med. Genet. 31: 449-453, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3068991/&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;3068991&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320310225&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="3068991">Gal et al. (1988)</a> described prenatal exclusion of ND with flanking DNA markers. In an addendum, they stated that 3 families with Norrie disease and DXS7 deletion had been reported, bringing the compiled lod score for NDP vs DXS7 linkage to 11.18 at theta = 0.00. Using a RFLP detected by the ornithine amino transferase (OAT)-related DNA sequences that map to Xp (see <a href="/entry/258870">258870</a>), <a href="#35" class="mim-tip-reference" title="Ngo, J., Spence, M. A., Cortessis, V., Bateman, J. B., Sparkes, R. S. &lt;strong&gt;Duplicate report crossing over in Norrie disease family. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 33: 286, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2764042/&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;2764042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330231&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="2764042">Ngo et al. (1989)</a> found a suggestion of linkage to the Norrie disease locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3068991+2764042" 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><a href="#57" class="mim-tip-reference" title="Wolff, G., Mayerova, A., Wienker, T. F., Atalianis, P., Ioannou, P., Warburg, M. &lt;strong&gt;Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).&lt;/strong&gt; J. Med. Genet. 29: 816-819, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1453434/&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;1453434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.29.11.816&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="1453434">Wolff et al. (1992)</a> restudied the family with 'Episkopi blindness' originally studied by <a href="#47" class="mim-tip-reference" title="Taylor, P. J., Coates, T., Newhouse, M. L. &lt;strong&gt;Episkopi blindness: hereditary blindness in a Greek Cypriot family.&lt;/strong&gt; Brit. J. Ophthal. 43: 340-344, 1959.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13662558/&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;13662558&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.43.6.340&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="13662558">Taylor et al. (1959)</a>. DNA studies revealed no deletion of any of the probes from proximal Xq. Linkage analysis yielded positive lod scores for all informative markers; e.g., with DXS255 (Xp11.22), maximum lod = 6.54 at theta = 0.0. The findings confirmed that Episkopi blindness and Norrie disease are the same entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13662558+1453434" 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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<div>
<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Cytogenetics</strong>
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</h4>
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<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
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<p>Gal et al. (<a href="#17" class="mim-tip-reference" title="Gal, A., Bleeker-Wagemakers, L., Wienker, T. F., Warburg, M., Ropers, H.-H. &lt;strong&gt;Localization of the gene for Norrie disease by linkage to the DXS7 locus. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 40: 633, 1985."None>1985</a>, <a href="#20" class="mim-tip-reference" title="Gal, A., Wieringa, B., Smeets, D. F. C. M., Bleeker-Wagemakers, L., Ropers, H. H. &lt;strong&gt;Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.&lt;/strong&gt; Cytogenet. Cell Genet. 42: 219-224, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3502689/&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;3502689&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000132282&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="3502689">1986</a>) described a 14-year-old boy with a complex syndrome dominated by Norrie disease who appeared to have a small deletion involving DXS7; the deletion had been transmitted through 3 generations. Other features included severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections. <a href="#11" class="mim-tip-reference" title="de la Chapelle, A., Sankila, E.-M., Lindlof, M., Aula, P., Norio, R. &lt;strong&gt;Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.&lt;/strong&gt; Clin. Genet. 28: 317-320, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2998655/&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;2998655&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1985.tb00405.x&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="2998655">De la Chapelle et al. (1985)</a> found a deletion defined by DXS7 in 4 affected members of a family with Norrie disease. Using probe L1.28 in the study of a chorion villus sample, they showed that the male fetus of a carrier woman was unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2998655+3502689" 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><a href="#39" class="mim-tip-reference" title="Ohba, N., Yamashita, T. &lt;strong&gt;Primary vitreoretinal dysplasia resembling Norrie&#x27;s disease in a female: association with X autosome chromosomal translocation.&lt;/strong&gt; Brit. J. Ophthal. 70: 64-71, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3947601/&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;3947601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.70.1.64&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="3947601">Ohba and Yamashita (1986)</a> presented evidence suggesting that the Norrie disease locus may be at Xp11. A female infant with typical clinical and histopathologic features of vitreoretinal dysplasia was found to have a reciprocal translocation at t(X;10)(p11;p14). Her parents and sibs had normal karyotypes. <a href="#13" class="mim-tip-reference" title="Donnai, D., Mountford, R. C., Read, A. P. &lt;strong&gt;Norrie disease resulting from a gene deletion: clinical features and DNA studies.&lt;/strong&gt; J. Med. Genet. 25: 73-78, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3162283/&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;3162283&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.2.73&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="3162283">Donnai et al. (1988)</a> found that the DXS7 locus was deleted in 2 affected brothers. OTC (<a href="/entry/300461">300461</a>), located at Xp21.1, and DXS84, also located at Xp21.1, were intact. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3947601+3162283" 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>In 3 generations of a Norrie disease family with 4 affected males in 3 sibships of 2 generations, <a href="#59" class="mim-tip-reference" title="Zhu, D., Antonarakis, S. E., Schmeckpeper, B. J., Diergaarde, P. J., Greb, A. E., Maumenee, I. H. &lt;strong&gt;Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.&lt;/strong&gt; Am. J. Med. Genet. 33: 485-488, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2596510/&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;2596510&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320330415&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="2596510">Zhu et al. (1989)</a> demonstrated deletion of 2 loci, DXS7 and DXS77. DNA studies of chorion villus biopsy material from the fetus of an obligatory carrier indicated that the fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months. <a href="#12" class="mim-tip-reference" title="Diergaarde, P. J., Wieringa, B., Bleeker-Wagemakers, E. M., Sims, K. B., Breakefield, X. O., Ropers, H.-H. &lt;strong&gt;Physical fine-mapping of a deletion spanning the Norrie gene.&lt;/strong&gt; Hum. Genet. 84: 22-26, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2606473/&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;2606473&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00210665&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="2606473">Diergaarde et al. (1989)</a> further refined the localization of the deletion in a Dutch case of ND. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2606473+2596510" 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><a href="#9" class="mim-tip-reference" title="Collins, F. A., Murphy, D. L., Reiss, A. L., Sims, K. B., Lewis, J. G., Freund, L., Karoum, F., Zhu, D., Maumenee, I. H., Antonarakis, S. E. &lt;strong&gt;Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.&lt;/strong&gt; Am. J. Med. Genet. 42: 127-134, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1308352/&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;1308352&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420126&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="1308352">Collins et al. (1992)</a> reported a male with Norrie disease and 2 obligate heterozygous females who were shown to have a submicroscopic deletion involving the Norrie disease locus and the loci for MAOA (<a href="/entry/309850">309850</a>) and MAOB (<a href="/entry/309860">309860</a>). The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotypy-habit disorder, characterized as persistent stereotypic and self-injurious behavior. Both obligate carriers had a normal IQ. In the propositus, MAO activity was undetectable; in the female heterozygotes, the levels were reduced to the range observed in patients receiving MAO-inhibiting antidepressants. One of the carriers, the mother of the propositus, met diagnostic criteria for 'chronic hypomania and schizotypal features.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1308352" 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><a href="#29" class="mim-tip-reference" title="Lindsay, S., Thiselton, D. L., Bateman, J. B., Ngo, J. T., Sparkes, R. S., Coleman, M., Davies, K. E., Bhattacharya, S. S. &lt;strong&gt;Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.&lt;/strong&gt; Hum. Genet. 88: 349-350, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1733838/&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;1733838&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00197273&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="1733838">Lindsay et al. (1992)</a> did linkage studies using a highly informative microsatellite marker, DXS426, which maps proximal to DXS7 in the interval Xp11.4-p11.23. A multiply informative crossover localized the NDP gene proximal to DXS7. In conjunction with information from 2 ND patients who had a deletion for DXS7 but not for DXS426, their data indicated that the NDP gene is between DXS7 and DXS426 on proximal Xp. <a href="#7" class="mim-tip-reference" title="Chen, Z.-Y., Sims, K. B., Coleman, M., Donnai, D., Monaco, A., Breakefield, X. O., Davies, K. E., Craig, I. W. &lt;strong&gt;Characterization of a YAC containing part or all of the Norrie disease locus.&lt;/strong&gt; Hum. Molec. Genet. 1: 161-164, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303171/&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;1303171&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.3.161&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="1303171">Chen et al. (1992)</a> studied the end point of the deletion in a Norrie disease patient who had been shown to lack both DXS7 and MAO coding sequences, these being closely situated telomeric to the NDP locus. The pattern of retention of subclones within the deletion patient placed the end point of the deletion within 30 to 130 kb of the proximal end of a 650-kb YAC containing DXS7 and the MAO genes. They concluded that the NDP gene lay in whole or in part in the interval of approximately 250 kb within the YAC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1303171+1733838" 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="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#3" class="mim-tip-reference" title="Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T. &lt;strong&gt;Isolation of a candidate gene for Norrie disease by positional cloning.&lt;/strong&gt; Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303235/&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;1303235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0692-199&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="1303235">Berger et al. (1992)</a> cloned the NDP gene and identified small deletions within the gene in several patients with Norrie disease. <a href="#4" class="mim-tip-reference" title="Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H. &lt;strong&gt;Mutations in the candidate gene for Norrie disease.&lt;/strong&gt; Hum. Molec. Genet. 1: 461-465, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1307245/&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;1307245&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.7.461&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="1307245">Berger et al. (1992)</a> identified 11 different mutations in the NDP gene (see, e.g., <a href="/entry/300658#0001">300658.0001</a>; <a href="/entry/300658#0002">300658.0002</a>) in 12 of 17 unrelated patients with Norrie disease. The fact that only one of the point mutations was detected twice was in keeping with the high proportion of new mutations expected for an X-linked disorder with greatly reduced male reproductive fitness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1303235+1307245" 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><a href="#42" class="mim-tip-reference" title="Schuback, D. E., Chen, Z. Y., Craig, I. W., Breakefield, X. O., Sims, K. B. &lt;strong&gt;Mutations in the Norrie disease gene.&lt;/strong&gt; Hum. Mutat. 5: 285-292, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7627181/&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;7627181&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380050403&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="7627181">Schuback et al. (1995)</a> identified mutations in the NDP gene in 24 of 26 kindreds with Norrie disease. The authors identified 3 previously described submicroscopic deletions encompassing the entire ND gene, 6 intragenic deletions, 8 missense mutations, 6 nonsense mutations, and 1 10-bp insertion. With the exception of 2 different mutations, each found in 2 apparently unrelated kindreds, these mutations were unique. Location of most point mutations at or near cysteine residues, potentially critical in protein tertiary structure, supported a previous protein model for norrin as a member of a cystine knot growth factor family (<a href="#32" class="mim-tip-reference" title="Meitinger, T., Meindl, A., Bork, P., Rost, B., Sander, C., Haasemann, M., Murken, J. &lt;strong&gt;Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.&lt;/strong&gt; Nature Genet. 5: 376-380, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8298646/&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;8298646&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1293-376&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="8298646">Meitinger et al., 1993</a>). Although genotype-phenotype correlations were limited, patients with larger submicroscopic deletions tended to have a more severe neurologic syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7627181+8298646" 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><a href="#23" class="mim-tip-reference" title="Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Doi, N., Nakagawa, M., Ozawa, M., Kuroda, N. &lt;strong&gt;Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.&lt;/strong&gt; Hum. Genet. 95: 105-108, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7814011/&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;7814011&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00225085&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="7814011">Isashiki et al. (1995)</a> tabulated known mutations in the NDP gene together with the clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7814011" 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><a href="#49" class="mim-tip-reference" title="Walker, J. L., Dixon, J., Fenton, C. R., Hungerford, J., Lynch, S. A., Stenhouses, S. A. R., Christian, A., Craig, I. W. &lt;strong&gt;Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.&lt;/strong&gt; Hum. Mutat. 9: 53-56, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8990009/&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;8990009&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1997)9:1&lt;53::AID-HUMU9&gt;3.0.CO;2-Q&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="8990009">Walker et al. (1997)</a> described 2 mutations in exon 3 of the NDP gene, a nonsense (S73X; <a href="/entry/300658#0020">300658.0020</a>) and a missense (S101F; <a href="/entry/300658#0021">300658.0021</a>) mutation, associated with severe and less severe ocular phenotype, respectively. Affected individuals in both families presented with neither the sensorineural deafness nor the mental retardation that often accompanies Norrie disease. Whereas the ocular features of the nonsense mutation were fairly typical of Norrie disease, the missense change in the C terminus was associated with milder features. Others (<a href="#6" class="mim-tip-reference" title="Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W. &lt;strong&gt;A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.&lt;/strong&gt; Nature Genet. 5: 180-183, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8252044/&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;8252044&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1093-180&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="8252044">Chen et al., 1993</a>; <a href="#31" class="mim-tip-reference" title="Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz-Valckenberg, P., Meitinger, T. &lt;strong&gt;Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.&lt;/strong&gt; Hum. Molec. Genet. 4: 489-490, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7795608/&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;7795608&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.3.489&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="7795608">Meindl et al., 1995</a>) had previously made the observation that mutations in the C-terminal portion of the gene product appear to result in a less severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8990009+8252044+7795608" 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>History</strong>
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<p><a href="#8" class="mim-tip-reference" title="Clarke, E. &lt;strong&gt;&#x27;Pseudo-glioma&#x27; in both eyes.&lt;/strong&gt; Trans. Ophthal. Soc. U.K. 18: 136-138, 1898."None>Clarke (1898)</a> described possibly affected females. A man blind from probable bilateral 'pseudoglioma' married his first cousin. Of their 6 children, 2 girls and 1 boy had unilateral or bilateral 'pseudoglioma.'</p><p>In his System of Ophthalmology, <a href="#15" class="mim-tip-reference" title="Duke-Elder, S. &lt;strong&gt;System of Ophthalmology.&lt;/strong&gt; St. Louis: C.V. Mosby 1958."None>Duke-Elder (1958)</a> mistakenly classified the disorder as band-shaped keratopathy.</p><p><a href="#45" class="mim-tip-reference" title="Sims, K. B., Ozelius, L., Corey, T., Rinehart, W. B., Liberfarb, R., Haines, J., Chen, W. J., Norio, R., Sankila, E., de la Chapelle, A., Murphy, D. L., Gusella, J., Breakefield, X. O. &lt;strong&gt;Norrie disease gene is distinct from the monoamine oxidase genes.&lt;/strong&gt; Am. J. Hum. Genet. 45: 424-434, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2773935/&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;2773935&lt;/a&gt;]" pmid="2773935">Sims et al. (1989)</a> demonstrated that the Norrie disease gene is distinct from the monoamine oxidase genes, although some males with atypical Norrie disease who have a submicroscopic deletion in the region of the DXS7 locus have been shown to have disruption of the MAOA and MAOB genes. The authors studied genomic DNA from 19 males in 9 families affected with Norrie disease. No deletions or rearrangements in the region of DXS7 or MAOA were observed in the DNA of these patients. Linkage analysis between the NDP gene and the DXS7 or MAOA loci showed no recombination, with a lod score of 2.80 and 2.58 at a theta of 0.0 for MAOA and DXS7, respectively. MAO activities in fibroblasts and platelets were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2773935" 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>See Also:</strong>
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<a href="#Andersen1961" class="mim-tip-reference" title="Andersen, S. R., Warburg, M. &lt;strong&gt;Norrie&#x27;s disease: congenital bilateral pseudotumor of the retina with recessive X-chromosomal inheritance: preliminary report.&lt;/strong&gt; Arch. Ophthal. 66: 614-618, 1961.">Andersen and Warburg (1961)</a>; <a href="#Gal1985" class="mim-tip-reference" title="Gal, A., Stolzenberger, C., Wienker, T., Wieacker, P., Ropers, H.-H., Friedrich, U., Bleeker-Wagemakers, L., Pearson, P., Warburg, M. &lt;strong&gt;Norrie&#x27;s disease: close linkage with genetic markers from the proximal short arm of the X chromosome.&lt;/strong&gt; Clin. Genet. 27: 282-283, 1985.">Gal et al. (1985)</a>; <a href="#Holmes1971" class="mim-tip-reference" title="Holmes, L. B. &lt;strong&gt;Norrie&#x27;s disease--an X-linked syndrome of retinal malformation, mental retardation and deafness.&lt;/strong&gt; New Eng. J. Med. 284: 367-368, 1971.">Holmes (1971)</a>; <a href="#Isashiki1995" class="mim-tip-reference" title="Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Hotta, Y., Hayakawa, M., Fujiki, K., Tanabe, U. &lt;strong&gt;Mutations in the Norrie disease gene: a new mutation in a Japanese family. (Letter)&lt;/strong&gt; Brit. J. Ophthal. 79: 703-708, 1995.">Isashiki et al. (1995)</a>; <a href="#Meindl1992" class="mim-tip-reference" title="Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H. &lt;strong&gt;Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.&lt;/strong&gt; Nature Genet. 2: 139-143, 1992.">Meindl et al. (1992)</a>; <a href="#Nance1969" class="mim-tip-reference" title="Nance, W. E., Hara, S., Hansen, A., Elliott, J., Lewis, M., Chown, B. &lt;strong&gt;Genetic linkage studies in a Negro kindred with Norrie&#x27;s disease.&lt;/strong&gt; Am. J. Hum. Genet. 21: 423-429, 1969.">Nance et al. (1969)</a>; <a href="#Ngo1989" class="mim-tip-reference" title="Ngo, J. T., Bateman, J. B., Cortessis, V., Sparkes, R. S., Mohandas, T., Inana, G., Spence, M. A. &lt;strong&gt;Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.&lt;/strong&gt; Genomics 4: 539-545, 1989.">Ngo et al. (1989)</a>; <a href="#Phillips1986" class="mim-tip-reference" title="Phillips, C. I., Newton, M., Duvall, J., Holloway, S., Levy, A. M. &lt;strong&gt;Probably Norrie&#x27;s disease due to mutation: two sporadic sibships of two males each, a necropsy of one case, and, given Norrie&#x27;s disease, a calculation of the gene mutation frequency.&lt;/strong&gt; Brit. J. Ophthal. 70: 305-313, 1986.">Phillips et al. (1986)</a>; <a href="#Sims1989" class="mim-tip-reference" title="Sims, K. B., Ozelius, L., Corey, T., Rinehart, W. B., Liberfarb, R., Haines, J., Chen, W. J., Norio, R., Sankila, E., de la Chapelle, A., Murphy, D. L., Gusella, J., Breakefield, X. O. &lt;strong&gt;Norrie disease gene is distinct from the monoamine oxidase genes.&lt;/strong&gt; Am. J. Hum. Genet. 45: 424-434, 1989.">Sims et al. (1989)</a>; <a href="#Sims1992" class="mim-tip-reference" title="Sims, K. B., Lebo, R. V., Benson, G., Shalish, C., Schuback, D., Chen, Z. Y., Bruns, G., Craig, I. W., Golbus, M. S., Breakefield, X. O. &lt;strong&gt;The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.&lt;/strong&gt; Hum. Molec. Genet. 1: 83-89, 1992.">Sims
et al. (1992)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
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<a id="1" class="mim-anchor"></a>
<a id="Andersen1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Andersen, S. R., Warburg, M.
<strong>Norrie's disease: congenital bilateral pseudotumor of the retina with recessive X-chromosomal inheritance: preliminary report.</strong>
Arch. Ophthal. 66: 614-618, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13861187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13861187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13861187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1961.00960010616003" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Ash1922" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ash, W. M.
<strong>Hereditary microphthalmia.</strong>
Brit. Med. J. 1: 558-559, 1922.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20770671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20770671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20770671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bmj.1.3197.558" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Berger1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T.
<strong>Isolation of a candidate gene for Norrie disease by positional cloning.</strong>
Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0692-199" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Berger1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H.
<strong>Mutations in the candidate gene for Norrie disease.</strong>
Hum. Molec. Genet. 1: 461-465, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1307245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1307245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1307245" 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/1.7.461" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Bleeker-Wagemakers1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bleeker-Wagemakers, L. M., Friedrich, U., Gal, A., Wienker, T. F., Warburg, M., Ropers, H.-H.
<strong>Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.</strong>
Hum. Genet. 71: 211-214, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2998969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2998969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2998969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00284575" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Chen1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W.
<strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong>
Nature Genet. 5: 180-183, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8252044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1093-180" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Chen1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chen, Z.-Y., Sims, K. B., Coleman, M., Donnai, D., Monaco, A., Breakefield, X. O., Davies, K. E., Craig, I. W.
<strong>Characterization of a YAC containing part or all of the Norrie disease locus.</strong>
Hum. Molec. Genet. 1: 161-164, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303171" 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/1.3.161" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Clarke1898" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Clarke, E.
<strong>'Pseudo-glioma' in both eyes.</strong>
Trans. Ophthal. Soc. U.K. 18: 136-138, 1898.
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Collins1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Collins, F. A., Murphy, D. L., Reiss, A. L., Sims, K. B., Lewis, J. G., Freund, L., Karoum, F., Zhu, D., Maumenee, I. H., Antonarakis, S. E.
<strong>Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.</strong>
Am. J. Med. Genet. 42: 127-134, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1308352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1308352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1308352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320420126" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Dahlberg-Parrow1956" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dahlberg-Parrow, R.
<strong>Congenital sex-linked pseudoglioma and grave mental deficiency.</strong>
Acta Ophthal. 34: 250-254, 1956.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13372212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13372212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13372212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1755-3768.1956.tb03358.x" target="_blank">Full Text</a>]
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<a id="de la Chapelle1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de la Chapelle, A., Sankila, E.-M., Lindlof, M., Aula, P., Norio, R.
<strong>Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.</strong>
Clin. Genet. 28: 317-320, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2998655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2998655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2998655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00405.x" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Diergaarde1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Diergaarde, P. J., Wieringa, B., Bleeker-Wagemakers, E. M., Sims, K. B., Breakefield, X. O., Ropers, H.-H.
<strong>Physical fine-mapping of a deletion spanning the Norrie gene.</strong>
Hum. Genet. 84: 22-26, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2606473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2606473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2606473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00210665" target="_blank">Full Text</a>]
</p>
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</li>
<li>
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Donnai, D., Mountford, R. C., Read, A. P.
<strong>Norrie disease resulting from a gene deletion: clinical features and DNA studies.</strong>
J. Med. Genet. 25: 73-78, 1988.
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[<a href="https://doi.org/10.1136/jmg.25.2.73" target="_blank">Full Text</a>]
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<strong>Pseudoglioma in children: aspects of clinical and pathological diagnosis.</strong>
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[<a href="https://doi.org/10.1097/00007611-195806000-00013" target="_blank">Full Text</a>]
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Duke-Elder, S.
<strong>System of Ophthalmology.</strong>
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Gal, A., Bleeker-Wagemakers, L., Wienker, T. F., Warburg, M., Ropers, H.-H.
<strong>Localization of the gene for Norrie disease by linkage to the DXS7 locus. (Abstract)</strong>
Cytogenet. Cell Genet. 40: 633, 1985.
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<p class="mim-text-font">
Gal, A., Stolzenberger, C., Wienker, T., Wieacker, P., Ropers, H.-H., Friedrich, U., Bleeker-Wagemakers, L., Pearson, P., Warburg, M.
<strong>Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.</strong>
Clin. Genet. 27: 282-283, 1985.
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[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00221.x" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
<a id="Gal1988" class="mim-anchor"></a>
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Gal, A., Uhlhaas, S., Glaser, D., Grimm, T.
<strong>Prenatal exclusion of Norrie disease with flanking DNA markers.</strong>
Am. J. Med. Genet. 31: 449-453, 1988.
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[<a href="https://doi.org/10.1002/ajmg.1320310225" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
<a id="Gal1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gal, A., Wieringa, B., Smeets, D. F. C. M., Bleeker-Wagemakers, L., Ropers, H. H.
<strong>Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.</strong>
Cytogenet. Cell Genet. 42: 219-224, 1986.
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[<a href="https://doi.org/10.1159/000132282" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Harendra de Silva1988" class="mim-anchor"></a>
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Harendra de Silva, D. G., de Silva, D. B. K.
<strong>Norrie's disease in an Asian family.</strong>
Brit. J. Ophthal. 72: 62-64, 1988.
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[<a href="https://doi.org/10.1136/bjo.72.1.62" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
<a id="Holmes1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Holmes, L. B.
<strong>Norrie's disease--an X-linked syndrome of retinal malformation, mental retardation and deafness.</strong>
New Eng. J. Med. 284: 367-368, 1971.
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[<a href="https://doi.org/10.1056/NEJM197102182840707" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
<a id="Isashiki1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Doi, N., Nakagawa, M., Ozawa, M., Kuroda, N.
<strong>Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.</strong>
Hum. Genet. 95: 105-108, 1995.
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[<a href="https://doi.org/10.1007/BF00225085" target="_blank">Full Text</a>]
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<a id="Isashiki1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Hotta, Y., Hayakawa, M., Fujiki, K., Tanabe, U.
<strong>Mutations in the Norrie disease gene: a new mutation in a Japanese family. (Letter)</strong>
Brit. J. Ophthal. 79: 703-708, 1995.
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[<a href="https://doi.org/10.1136/bjo.79.7.703" target="_blank">Full Text</a>]
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<a id="Johnston1982" class="mim-anchor"></a>
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Johnston, S. S., Hanna, J. E., Nevin, N. C., Bryars, J. H.
<strong>Norrie's disease.</strong>
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<a id="Katayama1988" class="mim-anchor"></a>
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Katayama, S., Wohlferd, M., Golbus, M. S.
<strong>First demonstration of recombination between the gene for Norrie disease and probe L1.28.</strong>
Am. J. Med. Genet. 30: 967-970, 1988.
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[<a href="https://doi.org/10.1002/ajmg.1320300415" target="_blank">Full Text</a>]
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<a id="Kivlin1987" class="mim-anchor"></a>
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Kivlin, J. D., Sanborn, G. E., Wright, E., Cannon, L., Carey, J.
<strong>Further linkage data on Norrie disease.</strong>
Am. J. Med. Genet. 26: 733-736, 1987.
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[<a href="https://doi.org/10.1002/ajmg.1320260329" target="_blank">Full Text</a>]
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<a id="Lev2007" class="mim-anchor"></a>
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<p class="mim-text-font">
Lev, D., Weigl, Y., Hasan, M., Gak, E., Davidovich, M., Vinkler, C., Leshinsky-Silver, E., Lerman-Sagie, T., Watemberg, N.
<strong>A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.31531" target="_blank">Full Text</a>]
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<a id="Lindsay1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lindsay, S., Thiselton, D. L., Bateman, J. B., Ngo, J. T., Sparkes, R. S., Coleman, M., Davies, K. E., Bhattacharya, S. S.
<strong>Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.</strong>
Hum. Genet. 88: 349-350, 1992.
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[<a href="https://doi.org/10.1007/BF00197273" target="_blank">Full Text</a>]
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<a id="Meindl1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H.
<strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong>
Nature Genet. 2: 139-143, 1992.
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[<a href="https://doi.org/10.1038/ng1092-139" target="_blank">Full Text</a>]
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<a id="Meindl1995" class="mim-anchor"></a>
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Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz-Valckenberg, P., Meitinger, T.
<strong>Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.</strong>
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[<a href="https://doi.org/10.1093/hmg/4.3.489" target="_blank">Full Text</a>]
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<a id="Meitinger1993" class="mim-anchor"></a>
<div class="">
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Meitinger, T., Meindl, A., Bork, P., Rost, B., Sander, C., Haasemann, M., Murken, J.
<strong>Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.</strong>
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[<a href="https://doi.org/10.1038/ng1293-376" target="_blank">Full Text</a>]
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<a id="Moreira-Filho1979" class="mim-anchor"></a>
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Moreira-Filho, C. A., Neustein, I.
<strong>A presumptive new variant of Norrie's disease.</strong>
J. Med. Genet. 16: 125-128, 1979.
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[<a href="https://doi.org/10.1136/jmg.16.2.125" target="_blank">Full Text</a>]
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<a id="Nance1969" class="mim-anchor"></a>
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<p class="mim-text-font">
Nance, W. E., Hara, S., Hansen, A., Elliott, J., Lewis, M., Chown, B.
<strong>Genetic linkage studies in a Negro kindred with Norrie's disease.</strong>
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<a id="Ngo1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ngo, J., Spence, M. A., Cortessis, V., Bateman, J. B., Sparkes, R. S.
<strong>Duplicate report crossing over in Norrie disease family. (Letter)</strong>
Am. J. Med. Genet. 33: 286, 1989.
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[<a href="https://doi.org/10.1002/ajmg.1320330231" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Ngo1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ngo, J. T., Bateman, J. B., Cortessis, V., Sparkes, R. S., Mohandas, T., Inana, G., Spence, M. A.
<strong>Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.</strong>
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[<a href="https://doi.org/10.1016/0888-7543(89)90277-2" target="_blank">Full Text</a>]
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<a id="Ngo1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ngo, J. T., Spence, M. A., Cortessis, V., Sparkes, R. S., Bateman, J. B.
<strong>Recombinational event between Norrie disease and DXS7 loci.</strong>
Clin. Genet. 34: 43-47, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2900708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2900708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2900708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02614.x" target="_blank">Full Text</a>]
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<a id="Norrie1933" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Norrie, G.
<strong>Nogle Blindhedsaarsager: en oversigt.</strong>
Hospitalstidende 76: 141-147, 1933.
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<div class="">
<p class="mim-text-font">
Ohba, N., Yamashita, T.
<strong>Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.</strong>
Brit. J. Ophthal. 70: 64-71, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3947601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3947601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3947601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.70.1.64" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="40" class="mim-anchor"></a>
<a id="Phillips1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Phillips, C. I., Newton, M., Duvall, J., Holloway, S., Levy, A. M.
<strong>Probably Norrie's disease due to mutation: two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.</strong>
Brit. J. Ophthal. 70: 305-313, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3964631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3964631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3964631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.70.4.305" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="41" class="mim-anchor"></a>
<a id="Roberts1937" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Roberts, J. A. F.
<strong>Sex-linked microphthalmia sometimes associated with mental defect.</strong>
Brit. Med. J. 2: 1213-1216, 1937.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20781115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20781115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20781115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bmj.2.4015.1213" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="42" class="mim-anchor"></a>
<a id="Schuback1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schuback, D. E., Chen, Z. Y., Craig, I. W., Breakefield, X. O., Sims, K. B.
<strong>Mutations in the Norrie disease gene.</strong>
Hum. Mutat. 5: 285-292, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7627181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7627181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7627181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.1380050403" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="43" class="mim-anchor"></a>
<a id="Sims1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sims, K. B., de la Chapelle, A., Norio, R., Sankila, E.-M., Hsu, Y.-P. P., Rinehart, W. B., Corey, T. J., Ozelius, L., Powell, J. F., Bruns, G., Gusella, J. F., Murphy, D. L., Breakefield, X. O.
<strong>Monoamine oxidase deficiency in males with an X chromosome deletion.</strong>
Neuron 2: 1069-1076, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2483108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2483108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2483108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0896-6273(89)90231-6" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="44" class="mim-anchor"></a>
<a id="Sims1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sims, K. B., Lebo, R. V., Benson, G., Shalish, C., Schuback, D., Chen, Z. Y., Bruns, G., Craig, I. W., Golbus, M. S., Breakefield, X. O.
<strong>The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.</strong>
Hum. Molec. Genet. 1: 83-89, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1301161" 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/1.2.83" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="45" class="mim-anchor"></a>
<a id="Sims1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sims, K. B., Ozelius, L., Corey, T., Rinehart, W. B., Liberfarb, R., Haines, J., Chen, W. J., Norio, R., Sankila, E., de la Chapelle, A., Murphy, D. L., Gusella, J., Breakefield, X. O.
<strong>Norrie disease gene is distinct from the monoamine oxidase genes.</strong>
Am. J. Hum. Genet. 45: 424-434, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2773935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="46" class="mim-anchor"></a>
<a id="Stephens1947" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stephens, F. E.
<strong>A case of sex-linked microphthalmia.</strong>
J. Hered. 38: 307-310, 1947.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18900295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18900295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18900295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="47" class="mim-anchor"></a>
<a id="Taylor1959" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Taylor, P. J., Coates, T., Newhouse, M. L.
<strong>Episkopi blindness: hereditary blindness in a Greek Cypriot family.</strong>
Brit. J. Ophthal. 43: 340-344, 1959.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13662558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13662558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13662558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.43.6.340" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="48" class="mim-anchor"></a>
<a id="Waardenburg1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Waardenburg, P. J., Franceschetti, A., Klein, D.
<strong>Genetics and Ophthalmology. Vol. 1.</strong>
Assen, The Netherlands: Royal Van Gorcum 1961. Pp. 768-770.
</p>
</div>
</li>
<li>
<a id="49" class="mim-anchor"></a>
<a id="Walker1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Walker, J. L., Dixon, J., Fenton, C. R., Hungerford, J., Lynch, S. A., Stenhouses, S. A. R., Christian, A., Craig, I. W.
<strong>Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.</strong>
Hum. Mutat. 9: 53-56, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1&lt;53::AID-HUMU9&gt;3.0.CO;2-Q" target="_blank">Full Text</a>]
</p>
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<a id="50" class="mim-anchor"></a>
<a id="Warburg1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M., Hauge, M., Sanger, R.
<strong>Norrie's disease and the Xg blood group system: linkage data.</strong>
Acta Genet. Statist. Med. 15: 103-115, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14300021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14300021</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14300021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000151898" target="_blank">Full Text</a>]
</p>
</div>
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<a id="51" class="mim-anchor"></a>
<a id="Warburg1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M.
<strong>Norrie's disease: a new hereditary bilateral pseudotumour of the retina.</strong>
Acta Ophthal. (Copenh.) 39: 757-772, 1961.
</p>
</div>
</li>
<li>
<a id="52" class="mim-anchor"></a>
<a id="Warburg1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M.
<strong>Norrie's disease (atrofia bulborum hereditaria).</strong>
Acta Ophthal. 41: 134-146, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13998843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13998843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13998843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1755-3768.1963.tb03533.x" target="_blank">Full Text</a>]
</p>
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<a id="53" class="mim-anchor"></a>
<a id="Warburg1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M.
<strong>Norrie's disease, a congenital progressive oculo-acoustico-cerebral degeneration.</strong>
Acta Ophthal. (Copenh.) 89 (suppl.): 1-147, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6013082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6013082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6013082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="54" class="mim-anchor"></a>
<a id="Warburg1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M.
<strong>Personal Communication.</strong>
Copenhagen, Denmark 1966.
</p>
</div>
</li>
<li>
<a id="55" class="mim-anchor"></a>
<a id="Whitnall1940" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Whitnall, S. E., Norman, R. M.
<strong>Microphthalmia and the visual pathways: a case associated with blindness and imbecility, and sex-linked.</strong>
Brit. J. Ophthal. 24: 229-244, 1940.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18169694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18169694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18169694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.24.5.229" target="_blank">Full Text</a>]
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<a id="56" class="mim-anchor"></a>
<a id="Wilson1949" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wilson, W. M. G.
<strong>Congenital blindness (pseudoglioma) occurring as a sex-linked developmental anomaly.</strong>
Canad. Med. Assoc. J. 60: 580-584, 1949.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18134442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18134442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18134442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="57" class="mim-anchor"></a>
<a id="Wolff1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wolff, G., Mayerova, A., Wienker, T. F., Atalianis, P., Ioannou, P., Warburg, M.
<strong>Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).</strong>
J. Med. Genet. 29: 816-819, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1453434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1453434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1453434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.29.11.816" target="_blank">Full Text</a>]
</p>
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<a id="58" class="mim-anchor"></a>
<a id="Woodruff1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Woodruff, G., Newbury-Ecob, R., Plaha, D. S., Young, I. D.
<strong>Manifesting heterozygosity in Norrie's disease?.</strong>
Brit. J. Ophthal. 77: 813-814, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8110678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8110678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8110678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.77.12.813" target="_blank">Full Text</a>]
</p>
</div>
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<a id="59" class="mim-anchor"></a>
<a id="Zhu1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zhu, D., Antonarakis, S. E., Schmeckpeper, B. J., Diergaarde, P. J., Greb, A. E., Maumenee, I. H.
<strong>Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.</strong>
Am. J. Med. Genet. 33: 485-488, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2596510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320330415" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - reorganized : 7/27/2007
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Cassandra L. Kniffin - updated : 7/26/2007<br>Marla J. F. O'Neill - updated : 5/22/2006<br>Victor A. McKusick - updated : 10/14/2005<br>Jane Kelly - updated : 11/9/2004<br>Stylianos E. Antonarakis - updated : 4/13/2004<br>Victor A. McKusick - updated : 3/20/2001<br>Victor A. McKusick - updated : 10/25/1999<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 3/27/1998<br>Victor A. McKusick - updated : 10/20/1997<br>Victor A. McKusick - updated : 6/18/1997<br>Victor A. McKusick - updated : 2/28/1997<br>Cynthia K. Ewing - updated : 10/8/1996<br>Stylianos E. Antonarakis - updated : 7/8/1996
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Victor A. McKusick : 6/4/1986
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carol : 07/01/2024
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carol : 06/28/2024<br>carol : 06/26/2024<br>carol : 09/09/2016<br>carol : 03/12/2015<br>carol : 5/14/2014<br>terry : 9/24/2012<br>carol : 3/3/2010<br>alopez : 2/16/2009<br>carol : 6/10/2008<br>carol : 7/27/2007<br>ckniffin : 7/27/2007<br>ckniffin : 7/26/2007<br>alopez : 6/20/2007<br>carol : 6/2/2006<br>carol : 6/1/2006<br>carol : 5/22/2006<br>carol : 4/19/2006<br>carol : 11/29/2005<br>alopez : 10/17/2005<br>terry : 10/14/2005<br>tkritzer : 11/9/2004<br>mgross : 4/13/2004<br>alopez : 3/17/2004<br>ckniffin : 12/4/2003<br>ckniffin : 5/7/2002<br>terry : 3/20/2001<br>mgross : 11/4/1999<br>terry : 10/25/1999<br>carol : 6/7/1999<br>terry : 6/2/1999<br>psherman : 3/27/1998<br>dholmes : 3/6/1998<br>terry : 10/20/1997<br>mark : 7/1/1997<br>mark : 7/1/1997<br>jenny : 6/23/1997<br>mark : 6/18/1997<br>mark : 2/28/1997<br>terry : 2/26/1997<br>mark : 7/8/1996<br>mark : 2/14/1996<br>terry : 2/8/1996<br>mark : 2/7/1996<br>terry : 1/31/1996<br>mark : 12/13/1995<br>mark : 10/11/1995<br>carol : 2/3/1995<br>pfoster : 9/7/1994<br>terry : 5/10/1994<br>mimadm : 2/28/1994<br>carol : 12/20/1993
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<h3>
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<strong>#</strong> 310600
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<h3>
<span class="mim-font">
NORRIE DISEASE; ND
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<em>Alternative titles; symbols</em>
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ATROPHIA BULBORUM HEREDITARIA<br />
EPISKOPI BLINDNESS
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<strong>SNOMEDCT:</strong> 15228007; &nbsp;
<strong>ORPHA:</strong> 649; &nbsp;
<strong>DO:</strong> 0060844; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xp11.3
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Norrie disease
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310600
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X-linked recessive
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3
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NDP
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300658
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Norrie disease (ND) is caused by mutation in the NDP gene (300658), which encodes norrin, on chromosome Xp11.</p>
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<strong>Description</strong>
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<p>Norrie disease (ND) is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992). </p><p>Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (see Duke, 1958). </p>
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<strong>Clinical Features</strong>
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<p>Warburg (1961) reported 7 cases of a hereditary degenerative disease in 7 generations of a Danish family. The proband was a 12-month-old boy who was normal except for lens opacities found at initial examination at 3 months of age. He had atrophic irides and the fundus was filled with a proliferating retrolental yellowish mass. At 8 months of age, the left eye was enucleated on suspicion of retinoblastoma. Histologic examination showed a hemorrhagic necrotic mass in the posterior chamber, surrounded by undifferentiated glial tissue. Histologic diagnosis was pseudotumor of the retina, retinal hyperplasia, hyperplasia of retinal, ciliary, and iris pigment epithelium, hypoplasia and necrosis of the inner layer of the retina, cataract, and phthisis bulbi. Six relatives had a similar ocular disease. Deafness developed in 5 of these 7 patients in later years, and 4 patients had decreased mental capacity. Warburg (1961) found 48 similar cases in 9 families described in the literature under different categories which she believed belonged to this disease. She suggested that the disorder be named for Gordon Norrie (1933).</p><p>Taylor et al. (1959) reported a Greek family with this condition living in Episkopi in Cyprus, where the disorder was known as 'Episkopi blindness.' The published pedigree showed 16 affected males in 5 generations. All affected males were mentally retarded. </p><p>Roberts (1937) described a pedigree, originally reported in part by Ash (1922), in which 14 males over 4 generations had microphthalmia. Affected individuals had white patches on the cornea; 2 also had cataract and 5 had nystagmus. Of the 10 individuals for which information was available, 7 were mentally retarded and 3 had normal or above-average intelligence; there was no mental retardation in the family apart from microphthalmic individuals. Waardenburg et al. (1961) thought that the cases reported by Roberts (1937) had pseudoglioma or retinal dysplasia with secondary microphthalmia. Warburg (1966) later stated that the affected persons in Roberts' pedigree were clearly instances of Norrie disease. In only about half of the cases was the eye microphthalmic, or more precisely, phthisical. Histologic study of the eye in 1 mentally retarded blind boy from this family (Whitnall and Norman, 1940) showed changes like those observed by Warburg (1966) in Norrie disease, with small optic nerves and lateral geniculate bodies. </p><p>Stephens (1947) reported a family in which 7 males over 4 generations had isolated microphthalmia. The 2 patients who were examined also had sclerocornea. Because the phenotype was transmitted only by normal mothers to their sons, Stephens (1947) suggested that it represented a sex-linked recessive trait. Warburg (1966) noted that Stephens' patients were difficult to evaluate because they were rather old at the time of first examination and information was limited to the facts that the eyes were small and corneas cloudy, but she suggested that these patients may have had Norrie disease. In an extensive pedigree from a Canadian Indian group reported by Wilson (1949), histologic changes were similar to those of ND. </p><p>In the family reported by Forssman (1960), 'pseudoglioma' was combined with progressive mental deficiency present from infancy. These patients were first described by Dahlberg-Parrow (1956). Three of the blind boys were reexamined by Warburg (1966), who concluded that the histories and ocular findings were typical of ND. </p><p>Warburg (1963) presented 2 new families with 11 patients with Norrie disease. Patients examined varied from 2 months to 58 years of age. Earliest examinations showed pseudoglioma, synechiae, and atrophy of the iris. Blindness was found during the first month of life. Cataracts were observed by 8 months, and by 10 years, the eyes were atrophic with band-shaped corneal degeneration and dense cataract. The atrophy had advanced to opaque white cornea, obliterated anterior chamber, atrophic white iris, and cataractous lens by age 50 years. Though some afflicted had normal intelligence, many were mentally deficient. The mental retardation was a deterioration inasmuch as the affected infants seemed to be normal for the first 1 to 2 years. Five of 9 in 1 family were hard of hearing and 2 of these 5 had diabetes. The mode of inheritance in both families was X-linked recessive. </p><p>Johnston et al. (1982) described 2 Irish families with 8 affected males. Harendra de Silva and de Silva (1988) described an extensively affected family in Sri Lanka. </p><p>Woodruff et al. (1993) reported a 2-year-old girl who showed severe visual impairment resulting from cataract and total retinal detachment in the right eye with a vascularized mass behind the lens, and in the left eye a retinal fold and traction retinal detachment in the temporal periphery. She had a brother and 2 maternal uncles with Norrie disease. Woodruff et al. (1993) suggested that she was an example of a manifesting heterozygote. </p><p>Lev et al. (2007) reported a male infant with Norrie disease. At birth, he was noted to have abnormal red reflex of both eyes with bilateral vitreal opacities. CT imaging of the eyes showed small lenses attached to the cornea, opacification of the lenses, corneal opacities, and synechiae. Pars plana vitrectomy and lensectomy was performed. At age 11 months, he developed myoclonic jerks and irritability. He had significant developmental delay. Over the next few months, he continued to have seizures and showed profound mental retardation. Genetic analysis identified a mutation in the NDP gene (300658.0019). </p>
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<strong>Mapping</strong>
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<p>Warburg et al. (1965) demonstrated no linkage of Norrie disease with the Xg blood groups. Moreira-Filho and Neustein (1979) described 6 brothers with what they viewed as a variant of Norrie disease because microcephaly was present in all. Negative lod scores were obtained for linkage with Xg. </p><p>Gal et al. (1985) found close linkage of Norrie disease to the L1.28/TaqI RFLP, DXS7 (maximum lod = 3.50 at theta = 0.00) on the X chromosome, suggesting that ND may be in or slightly proximal to band Xp11.3 and near a locus for retinitis pigmentosa (RP2; 300757). Gal et al. (1985) found a peak lod score of 4.1 at theta = 0.00 for linkage with DXS7, which had been localized to Xp11.3. See Bleeker-Wagemakers et al. (1985) for the full data. </p><p>Kivlin et al. (1987) stated that no recombination had been identified between ND and the DNA marker L1.28; with their data, the total lod score became 5.42. Ngo et al. (1988) and Katayama et al. (1988) found the first recombinant between Norrie disease and the DXS7 locus. The addition of their family brought a total of published informative families to 7, with a maximum lod score of 7.58 at a recombination fraction of 0.038. They stated the assignment of the DXS7 locus (defined by probe L1.28) as Xp11.3-p11.2. Ngo et al. (1989) pointed out that a single recombination event had been reported twice (Ngo et al., 1988; Katayama et al., 1988). </p><p>Gal et al. (1988) described prenatal exclusion of ND with flanking DNA markers. In an addendum, they stated that 3 families with Norrie disease and DXS7 deletion had been reported, bringing the compiled lod score for NDP vs DXS7 linkage to 11.18 at theta = 0.00. Using a RFLP detected by the ornithine amino transferase (OAT)-related DNA sequences that map to Xp (see 258870), Ngo et al. (1989) found a suggestion of linkage to the Norrie disease locus. </p><p>Wolff et al. (1992) restudied the family with 'Episkopi blindness' originally studied by Taylor et al. (1959). DNA studies revealed no deletion of any of the probes from proximal Xq. Linkage analysis yielded positive lod scores for all informative markers; e.g., with DXS255 (Xp11.22), maximum lod = 6.54 at theta = 0.0. The findings confirmed that Episkopi blindness and Norrie disease are the same entity. </p>
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<strong>Cytogenetics</strong>
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<p>Gal et al. (1985, 1986) described a 14-year-old boy with a complex syndrome dominated by Norrie disease who appeared to have a small deletion involving DXS7; the deletion had been transmitted through 3 generations. Other features included severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections. De la Chapelle et al. (1985) found a deletion defined by DXS7 in 4 affected members of a family with Norrie disease. Using probe L1.28 in the study of a chorion villus sample, they showed that the male fetus of a carrier woman was unaffected. </p><p>Ohba and Yamashita (1986) presented evidence suggesting that the Norrie disease locus may be at Xp11. A female infant with typical clinical and histopathologic features of vitreoretinal dysplasia was found to have a reciprocal translocation at t(X;10)(p11;p14). Her parents and sibs had normal karyotypes. Donnai et al. (1988) found that the DXS7 locus was deleted in 2 affected brothers. OTC (300461), located at Xp21.1, and DXS84, also located at Xp21.1, were intact. </p><p>In 3 generations of a Norrie disease family with 4 affected males in 3 sibships of 2 generations, Zhu et al. (1989) demonstrated deletion of 2 loci, DXS7 and DXS77. DNA studies of chorion villus biopsy material from the fetus of an obligatory carrier indicated that the fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months. Diergaarde et al. (1989) further refined the localization of the deletion in a Dutch case of ND. </p><p>Collins et al. (1992) reported a male with Norrie disease and 2 obligate heterozygous females who were shown to have a submicroscopic deletion involving the Norrie disease locus and the loci for MAOA (309850) and MAOB (309860). The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotypy-habit disorder, characterized as persistent stereotypic and self-injurious behavior. Both obligate carriers had a normal IQ. In the propositus, MAO activity was undetectable; in the female heterozygotes, the levels were reduced to the range observed in patients receiving MAO-inhibiting antidepressants. One of the carriers, the mother of the propositus, met diagnostic criteria for 'chronic hypomania and schizotypal features.' </p><p>Lindsay et al. (1992) did linkage studies using a highly informative microsatellite marker, DXS426, which maps proximal to DXS7 in the interval Xp11.4-p11.23. A multiply informative crossover localized the NDP gene proximal to DXS7. In conjunction with information from 2 ND patients who had a deletion for DXS7 but not for DXS426, their data indicated that the NDP gene is between DXS7 and DXS426 on proximal Xp. Chen et al. (1992) studied the end point of the deletion in a Norrie disease patient who had been shown to lack both DXS7 and MAO coding sequences, these being closely situated telomeric to the NDP locus. The pattern of retention of subclones within the deletion patient placed the end point of the deletion within 30 to 130 kb of the proximal end of a 650-kb YAC containing DXS7 and the MAO genes. They concluded that the NDP gene lay in whole or in part in the interval of approximately 250 kb within the YAC. </p>
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<strong>Molecular Genetics</strong>
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<p>Berger et al. (1992) cloned the NDP gene and identified small deletions within the gene in several patients with Norrie disease. Berger et al. (1992) identified 11 different mutations in the NDP gene (see, e.g., 300658.0001; 300658.0002) in 12 of 17 unrelated patients with Norrie disease. The fact that only one of the point mutations was detected twice was in keeping with the high proportion of new mutations expected for an X-linked disorder with greatly reduced male reproductive fitness. </p><p>Schuback et al. (1995) identified mutations in the NDP gene in 24 of 26 kindreds with Norrie disease. The authors identified 3 previously described submicroscopic deletions encompassing the entire ND gene, 6 intragenic deletions, 8 missense mutations, 6 nonsense mutations, and 1 10-bp insertion. With the exception of 2 different mutations, each found in 2 apparently unrelated kindreds, these mutations were unique. Location of most point mutations at or near cysteine residues, potentially critical in protein tertiary structure, supported a previous protein model for norrin as a member of a cystine knot growth factor family (Meitinger et al., 1993). Although genotype-phenotype correlations were limited, patients with larger submicroscopic deletions tended to have a more severe neurologic syndrome. </p><p>Isashiki et al. (1995) tabulated known mutations in the NDP gene together with the clinical manifestations. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Walker et al. (1997) described 2 mutations in exon 3 of the NDP gene, a nonsense (S73X; 300658.0020) and a missense (S101F; 300658.0021) mutation, associated with severe and less severe ocular phenotype, respectively. Affected individuals in both families presented with neither the sensorineural deafness nor the mental retardation that often accompanies Norrie disease. Whereas the ocular features of the nonsense mutation were fairly typical of Norrie disease, the missense change in the C terminus was associated with milder features. Others (Chen et al., 1993; Meindl et al., 1995) had previously made the observation that mutations in the C-terminal portion of the gene product appear to result in a less severe phenotype. </p>
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<strong>History</strong>
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<p>Clarke (1898) described possibly affected females. A man blind from probable bilateral 'pseudoglioma' married his first cousin. Of their 6 children, 2 girls and 1 boy had unilateral or bilateral 'pseudoglioma.'</p><p>In his System of Ophthalmology, Duke-Elder (1958) mistakenly classified the disorder as band-shaped keratopathy.</p><p>Sims et al. (1989) demonstrated that the Norrie disease gene is distinct from the monoamine oxidase genes, although some males with atypical Norrie disease who have a submicroscopic deletion in the region of the DXS7 locus have been shown to have disruption of the MAOA and MAOB genes. The authors studied genomic DNA from 19 males in 9 families affected with Norrie disease. No deletions or rearrangements in the region of DXS7 or MAOA were observed in the DNA of these patients. Linkage analysis between the NDP gene and the DXS7 or MAOA loci showed no recombination, with a lod score of 2.80 and 2.58 at a theta of 0.0 for MAOA and DXS7, respectively. MAO activities in fibroblasts and platelets were normal. </p>
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<strong>See Also:</strong>
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Andersen and Warburg (1961); Gal et al. (1985); Holmes (1971);
Isashiki et al. (1995); Meindl et al. (1992); Nance et al. (1969);
Ngo et al. (1989); Phillips et al. (1986); Sims et al. (1989); Sims
et al. (1992)
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<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Andersen, S. R., Warburg, M.
<strong>Norrie&#x27;s disease: congenital bilateral pseudotumor of the retina with recessive X-chromosomal inheritance: preliminary report.</strong>
Arch. Ophthal. 66: 614-618, 1961.
[PubMed: 13861187]
[Full Text: https://doi.org/10.1001/archopht.1961.00960010616003]
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</li>
<li>
<p class="mim-text-font">
Ash, W. M.
<strong>Hereditary microphthalmia.</strong>
Brit. Med. J. 1: 558-559, 1922.
[PubMed: 20770671]
[Full Text: https://doi.org/10.1136/bmj.1.3197.558]
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</li>
<li>
<p class="mim-text-font">
Berger, W., Meindl, A., van de Pol, T. J. R., Cremers, F. P. M., Ropers, H. H., Doerner, C., Monaco, A., Bergen, A. A. B., Lebo, R., Warburg, M., Zergollern, L., Lorenz, B., Gal, A., Bleeker-Wagemakers, E. M., Meitinger, T.
<strong>Isolation of a candidate gene for Norrie disease by positional cloning.</strong>
Nature Genet. 1: 199-203, 1992. Note: Erratum: Nature Genet. 2: 84 only, 1992.
[PubMed: 1303235]
[Full Text: https://doi.org/10.1038/ng0692-199]
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<li>
<p class="mim-text-font">
Berger, W., van de Pol, D., Warburg, M., Gal, A., Bleeker-Wagemakers, L., de Silva, H., Meindl, A., Meitinger, T., Cremers, F., Ropers, H.-H.
<strong>Mutations in the candidate gene for Norrie disease.</strong>
Hum. Molec. Genet. 1: 461-465, 1992.
[PubMed: 1307245]
[Full Text: https://doi.org/10.1093/hmg/1.7.461]
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<li>
<p class="mim-text-font">
Bleeker-Wagemakers, L. M., Friedrich, U., Gal, A., Wienker, T. F., Warburg, M., Ropers, H.-H.
<strong>Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.</strong>
Hum. Genet. 71: 211-214, 1985.
[PubMed: 2998969]
[Full Text: https://doi.org/10.1007/BF00284575]
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<li>
<p class="mim-text-font">
Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W.
<strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong>
Nature Genet. 5: 180-183, 1993.
[PubMed: 8252044]
[Full Text: https://doi.org/10.1038/ng1093-180]
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<li>
<p class="mim-text-font">
Chen, Z.-Y., Sims, K. B., Coleman, M., Donnai, D., Monaco, A., Breakefield, X. O., Davies, K. E., Craig, I. W.
<strong>Characterization of a YAC containing part or all of the Norrie disease locus.</strong>
Hum. Molec. Genet. 1: 161-164, 1992.
[PubMed: 1303171]
[Full Text: https://doi.org/10.1093/hmg/1.3.161]
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<li>
<p class="mim-text-font">
Clarke, E.
<strong>&#x27;Pseudo-glioma&#x27; in both eyes.</strong>
Trans. Ophthal. Soc. U.K. 18: 136-138, 1898.
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<li>
<p class="mim-text-font">
Collins, F. A., Murphy, D. L., Reiss, A. L., Sims, K. B., Lewis, J. G., Freund, L., Karoum, F., Zhu, D., Maumenee, I. H., Antonarakis, S. E.
<strong>Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.</strong>
Am. J. Med. Genet. 42: 127-134, 1992.
[PubMed: 1308352]
[Full Text: https://doi.org/10.1002/ajmg.1320420126]
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<li>
<p class="mim-text-font">
Dahlberg-Parrow, R.
<strong>Congenital sex-linked pseudoglioma and grave mental deficiency.</strong>
Acta Ophthal. 34: 250-254, 1956.
[PubMed: 13372212]
[Full Text: https://doi.org/10.1111/j.1755-3768.1956.tb03358.x]
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<li>
<p class="mim-text-font">
de la Chapelle, A., Sankila, E.-M., Lindlof, M., Aula, P., Norio, R.
<strong>Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.</strong>
Clin. Genet. 28: 317-320, 1985.
[PubMed: 2998655]
[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00405.x]
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</li>
<li>
<p class="mim-text-font">
Diergaarde, P. J., Wieringa, B., Bleeker-Wagemakers, E. M., Sims, K. B., Breakefield, X. O., Ropers, H.-H.
<strong>Physical fine-mapping of a deletion spanning the Norrie gene.</strong>
Hum. Genet. 84: 22-26, 1989.
[PubMed: 2606473]
[Full Text: https://doi.org/10.1007/BF00210665]
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<li>
<p class="mim-text-font">
Donnai, D., Mountford, R. C., Read, A. P.
<strong>Norrie disease resulting from a gene deletion: clinical features and DNA studies.</strong>
J. Med. Genet. 25: 73-78, 1988.
[PubMed: 3162283]
[Full Text: https://doi.org/10.1136/jmg.25.2.73]
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<li>
<p class="mim-text-font">
Duke, J. R.
<strong>Pseudoglioma in children: aspects of clinical and pathological diagnosis.</strong>
Sth. Med. J. 51: 754-759, 1958.
[PubMed: 13556184]
[Full Text: https://doi.org/10.1097/00007611-195806000-00013]
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<li>
<p class="mim-text-font">
Duke-Elder, S.
<strong>System of Ophthalmology.</strong>
St. Louis: C.V. Mosby 1958.
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</li>
<li>
<p class="mim-text-font">
Forssman, H.
<strong>Mental deficiency and pseudoglioma, a syndrome inherited as an X-linked recessive.</strong>
Am. J. Ment. Defic. 64: 984-987, 1960.
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</li>
<li>
<p class="mim-text-font">
Gal, A., Bleeker-Wagemakers, L., Wienker, T. F., Warburg, M., Ropers, H.-H.
<strong>Localization of the gene for Norrie disease by linkage to the DXS7 locus. (Abstract)</strong>
Cytogenet. Cell Genet. 40: 633, 1985.
</p>
</li>
<li>
<p class="mim-text-font">
Gal, A., Stolzenberger, C., Wienker, T., Wieacker, P., Ropers, H.-H., Friedrich, U., Bleeker-Wagemakers, L., Pearson, P., Warburg, M.
<strong>Norrie&#x27;s disease: close linkage with genetic markers from the proximal short arm of the X chromosome.</strong>
Clin. Genet. 27: 282-283, 1985.
[PubMed: 3857130]
[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00221.x]
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</li>
<li>
<p class="mim-text-font">
Gal, A., Uhlhaas, S., Glaser, D., Grimm, T.
<strong>Prenatal exclusion of Norrie disease with flanking DNA markers.</strong>
Am. J. Med. Genet. 31: 449-453, 1988.
[PubMed: 3068991]
[Full Text: https://doi.org/10.1002/ajmg.1320310225]
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<li>
<p class="mim-text-font">
Gal, A., Wieringa, B., Smeets, D. F. C. M., Bleeker-Wagemakers, L., Ropers, H. H.
<strong>Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.</strong>
Cytogenet. Cell Genet. 42: 219-224, 1986.
[PubMed: 3502689]
[Full Text: https://doi.org/10.1159/000132282]
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<li>
<p class="mim-text-font">
Harendra de Silva, D. G., de Silva, D. B. K.
<strong>Norrie&#x27;s disease in an Asian family.</strong>
Brit. J. Ophthal. 72: 62-64, 1988.
[PubMed: 3342220]
[Full Text: https://doi.org/10.1136/bjo.72.1.62]
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</li>
<li>
<p class="mim-text-font">
Holmes, L. B.
<strong>Norrie&#x27;s disease--an X-linked syndrome of retinal malformation, mental retardation and deafness.</strong>
New Eng. J. Med. 284: 367-368, 1971.
[PubMed: 4992907]
[Full Text: https://doi.org/10.1056/NEJM197102182840707]
</p>
</li>
<li>
<p class="mim-text-font">
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Doi, N., Nakagawa, M., Ozawa, M., Kuroda, N.
<strong>Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.</strong>
Hum. Genet. 95: 105-108, 1995.
[PubMed: 7814011]
[Full Text: https://doi.org/10.1007/BF00225085]
</p>
</li>
<li>
<p class="mim-text-font">
Isashiki, Y., Ohba, N., Yanagita, T., Hokita, N., Hotta, Y., Hayakawa, M., Fujiki, K., Tanabe, U.
<strong>Mutations in the Norrie disease gene: a new mutation in a Japanese family. (Letter)</strong>
Brit. J. Ophthal. 79: 703-708, 1995.
[PubMed: 7662640]
[Full Text: https://doi.org/10.1136/bjo.79.7.703]
</p>
</li>
<li>
<p class="mim-text-font">
Johnston, S. S., Hanna, J. E., Nevin, N. C., Bryars, J. H.
<strong>Norrie&#x27;s disease.</strong>
Birth Defects Orig. Art. Ser. 18(6): 729-738, 1982.
[PubMed: 6890861]
</p>
</li>
<li>
<p class="mim-text-font">
Katayama, S., Wohlferd, M., Golbus, M. S.
<strong>First demonstration of recombination between the gene for Norrie disease and probe L1.28.</strong>
Am. J. Med. Genet. 30: 967-970, 1988.
[PubMed: 3189417]
[Full Text: https://doi.org/10.1002/ajmg.1320300415]
</p>
</li>
<li>
<p class="mim-text-font">
Kivlin, J. D., Sanborn, G. E., Wright, E., Cannon, L., Carey, J.
<strong>Further linkage data on Norrie disease.</strong>
Am. J. Med. Genet. 26: 733-736, 1987.
[PubMed: 3565487]
[Full Text: https://doi.org/10.1002/ajmg.1320260329]
</p>
</li>
<li>
<p class="mim-text-font">
Lev, D., Weigl, Y., Hasan, M., Gak, E., Davidovich, M., Vinkler, C., Leshinsky-Silver, E., Lerman-Sagie, T., Watemberg, N.
<strong>A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.</strong>
Am. J. Med. Genet. 143A: 921-924, 2007.
[PubMed: 17334993]
[Full Text: https://doi.org/10.1002/ajmg.a.31531]
</p>
</li>
<li>
<p class="mim-text-font">
Lindsay, S., Thiselton, D. L., Bateman, J. B., Ngo, J. T., Sparkes, R. S., Coleman, M., Davies, K. E., Bhattacharya, S. S.
<strong>Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.</strong>
Hum. Genet. 88: 349-350, 1992.
[PubMed: 1733838]
[Full Text: https://doi.org/10.1007/BF00197273]
</p>
</li>
<li>
<p class="mim-text-font">
Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dorner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F., Ropers, H.-H.
<strong>Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.</strong>
Nature Genet. 2: 139-143, 1992.
[PubMed: 1303264]
[Full Text: https://doi.org/10.1038/ng1092-139]
</p>
</li>
<li>
<p class="mim-text-font">
Meindl, A., Lorenz, B., Achatz, H., Hellebrand, H., Schmitz-Valckenberg, P., Meitinger, T.
<strong>Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.</strong>
Hum. Molec. Genet. 4: 489-490, 1995.
[PubMed: 7795608]
[Full Text: https://doi.org/10.1093/hmg/4.3.489]
</p>
</li>
<li>
<p class="mim-text-font">
Meitinger, T., Meindl, A., Bork, P., Rost, B., Sander, C., Haasemann, M., Murken, J.
<strong>Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.</strong>
Nature Genet. 5: 376-380, 1993.
[PubMed: 8298646]
[Full Text: https://doi.org/10.1038/ng1293-376]
</p>
</li>
<li>
<p class="mim-text-font">
Moreira-Filho, C. A., Neustein, I.
<strong>A presumptive new variant of Norrie&#x27;s disease.</strong>
J. Med. Genet. 16: 125-128, 1979.
[PubMed: 572429]
[Full Text: https://doi.org/10.1136/jmg.16.2.125]
</p>
</li>
<li>
<p class="mim-text-font">
Nance, W. E., Hara, S., Hansen, A., Elliott, J., Lewis, M., Chown, B.
<strong>Genetic linkage studies in a Negro kindred with Norrie&#x27;s disease.</strong>
Am. J. Hum. Genet. 21: 423-429, 1969.
[PubMed: 5307229]
</p>
</li>
<li>
<p class="mim-text-font">
Ngo, J., Spence, M. A., Cortessis, V., Bateman, J. B., Sparkes, R. S.
<strong>Duplicate report crossing over in Norrie disease family. (Letter)</strong>
Am. J. Med. Genet. 33: 286, 1989.
[PubMed: 2764042]
[Full Text: https://doi.org/10.1002/ajmg.1320330231]
</p>
</li>
<li>
<p class="mim-text-font">
Ngo, J. T., Bateman, J. B., Cortessis, V., Sparkes, R. S., Mohandas, T., Inana, G., Spence, M. A.
<strong>Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.</strong>
Genomics 4: 539-545, 1989.
[PubMed: 2568328]
[Full Text: https://doi.org/10.1016/0888-7543(89)90277-2]
</p>
</li>
<li>
<p class="mim-text-font">
Ngo, J. T., Spence, M. A., Cortessis, V., Sparkes, R. S., Bateman, J. B.
<strong>Recombinational event between Norrie disease and DXS7 loci.</strong>
Clin. Genet. 34: 43-47, 1988.
[PubMed: 2900708]
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb02614.x]
</p>
</li>
<li>
<p class="mim-text-font">
Norrie, G.
<strong>Nogle Blindhedsaarsager: en oversigt.</strong>
Hospitalstidende 76: 141-147, 1933.
</p>
</li>
<li>
<p class="mim-text-font">
Ohba, N., Yamashita, T.
<strong>Primary vitreoretinal dysplasia resembling Norrie&#x27;s disease in a female: association with X autosome chromosomal translocation.</strong>
Brit. J. Ophthal. 70: 64-71, 1986.
[PubMed: 3947601]
[Full Text: https://doi.org/10.1136/bjo.70.1.64]
</p>
</li>
<li>
<p class="mim-text-font">
Phillips, C. I., Newton, M., Duvall, J., Holloway, S., Levy, A. M.
<strong>Probably Norrie&#x27;s disease due to mutation: two sporadic sibships of two males each, a necropsy of one case, and, given Norrie&#x27;s disease, a calculation of the gene mutation frequency.</strong>
Brit. J. Ophthal. 70: 305-313, 1986.
[PubMed: 3964631]
[Full Text: https://doi.org/10.1136/bjo.70.4.305]
</p>
</li>
<li>
<p class="mim-text-font">
Roberts, J. A. F.
<strong>Sex-linked microphthalmia sometimes associated with mental defect.</strong>
Brit. Med. J. 2: 1213-1216, 1937.
[PubMed: 20781115]
[Full Text: https://doi.org/10.1136/bmj.2.4015.1213]
</p>
</li>
<li>
<p class="mim-text-font">
Schuback, D. E., Chen, Z. Y., Craig, I. W., Breakefield, X. O., Sims, K. B.
<strong>Mutations in the Norrie disease gene.</strong>
Hum. Mutat. 5: 285-292, 1995.
[PubMed: 7627181]
[Full Text: https://doi.org/10.1002/humu.1380050403]
</p>
</li>
<li>
<p class="mim-text-font">
Sims, K. B., de la Chapelle, A., Norio, R., Sankila, E.-M., Hsu, Y.-P. P., Rinehart, W. B., Corey, T. J., Ozelius, L., Powell, J. F., Bruns, G., Gusella, J. F., Murphy, D. L., Breakefield, X. O.
<strong>Monoamine oxidase deficiency in males with an X chromosome deletion.</strong>
Neuron 2: 1069-1076, 1989.
[PubMed: 2483108]
[Full Text: https://doi.org/10.1016/0896-6273(89)90231-6]
</p>
</li>
<li>
<p class="mim-text-font">
Sims, K. B., Lebo, R. V., Benson, G., Shalish, C., Schuback, D., Chen, Z. Y., Bruns, G., Craig, I. W., Golbus, M. S., Breakefield, X. O.
<strong>The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.</strong>
Hum. Molec. Genet. 1: 83-89, 1992.
[PubMed: 1301161]
[Full Text: https://doi.org/10.1093/hmg/1.2.83]
</p>
</li>
<li>
<p class="mim-text-font">
Sims, K. B., Ozelius, L., Corey, T., Rinehart, W. B., Liberfarb, R., Haines, J., Chen, W. J., Norio, R., Sankila, E., de la Chapelle, A., Murphy, D. L., Gusella, J., Breakefield, X. O.
<strong>Norrie disease gene is distinct from the monoamine oxidase genes.</strong>
Am. J. Hum. Genet. 45: 424-434, 1989.
[PubMed: 2773935]
</p>
</li>
<li>
<p class="mim-text-font">
Stephens, F. E.
<strong>A case of sex-linked microphthalmia.</strong>
J. Hered. 38: 307-310, 1947.
[PubMed: 18900295]
</p>
</li>
<li>
<p class="mim-text-font">
Taylor, P. J., Coates, T., Newhouse, M. L.
<strong>Episkopi blindness: hereditary blindness in a Greek Cypriot family.</strong>
Brit. J. Ophthal. 43: 340-344, 1959.
[PubMed: 13662558]
[Full Text: https://doi.org/10.1136/bjo.43.6.340]
</p>
</li>
<li>
<p class="mim-text-font">
Waardenburg, P. J., Franceschetti, A., Klein, D.
<strong>Genetics and Ophthalmology. Vol. 1.</strong>
Assen, The Netherlands: Royal Van Gorcum 1961. Pp. 768-770.
</p>
</li>
<li>
<p class="mim-text-font">
Walker, J. L., Dixon, J., Fenton, C. R., Hungerford, J., Lynch, S. A., Stenhouses, S. A. R., Christian, A., Craig, I. W.
<strong>Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.</strong>
Hum. Mutat. 9: 53-56, 1997.
[PubMed: 8990009]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:1&lt;53::AID-HUMU9&gt;3.0.CO;2-Q]
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M., Hauge, M., Sanger, R.
<strong>Norrie&#x27;s disease and the Xg blood group system: linkage data.</strong>
Acta Genet. Statist. Med. 15: 103-115, 1965.
[PubMed: 14300021]
[Full Text: https://doi.org/10.1159/000151898]
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M.
<strong>Norrie&#x27;s disease: a new hereditary bilateral pseudotumour of the retina.</strong>
Acta Ophthal. (Copenh.) 39: 757-772, 1961.
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M.
<strong>Norrie&#x27;s disease (atrofia bulborum hereditaria).</strong>
Acta Ophthal. 41: 134-146, 1963.
[PubMed: 13998843]
[Full Text: https://doi.org/10.1111/j.1755-3768.1963.tb03533.x]
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M.
<strong>Norrie&#x27;s disease, a congenital progressive oculo-acoustico-cerebral degeneration.</strong>
Acta Ophthal. (Copenh.) 89 (suppl.): 1-147, 1966.
[PubMed: 6013082]
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M.
<strong>Personal Communication.</strong>
Copenhagen, Denmark 1966.
</p>
</li>
<li>
<p class="mim-text-font">
Whitnall, S. E., Norman, R. M.
<strong>Microphthalmia and the visual pathways: a case associated with blindness and imbecility, and sex-linked.</strong>
Brit. J. Ophthal. 24: 229-244, 1940.
[PubMed: 18169694]
[Full Text: https://doi.org/10.1136/bjo.24.5.229]
</p>
</li>
<li>
<p class="mim-text-font">
Wilson, W. M. G.
<strong>Congenital blindness (pseudoglioma) occurring as a sex-linked developmental anomaly.</strong>
Canad. Med. Assoc. J. 60: 580-584, 1949.
[PubMed: 18134442]
</p>
</li>
<li>
<p class="mim-text-font">
Wolff, G., Mayerova, A., Wienker, T. F., Atalianis, P., Ioannou, P., Warburg, M.
<strong>Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).</strong>
J. Med. Genet. 29: 816-819, 1992.
[PubMed: 1453434]
[Full Text: https://doi.org/10.1136/jmg.29.11.816]
</p>
</li>
<li>
<p class="mim-text-font">
Woodruff, G., Newbury-Ecob, R., Plaha, D. S., Young, I. D.
<strong>Manifesting heterozygosity in Norrie&#x27;s disease?.</strong>
Brit. J. Ophthal. 77: 813-814, 1993.
[PubMed: 8110678]
[Full Text: https://doi.org/10.1136/bjo.77.12.813]
</p>
</li>
<li>
<p class="mim-text-font">
Zhu, D., Antonarakis, S. E., Schmeckpeper, B. J., Diergaarde, P. J., Greb, A. E., Maumenee, I. H.
<strong>Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.</strong>
Am. J. Med. Genet. 33: 485-488, 1989.
[PubMed: 2596510]
[Full Text: https://doi.org/10.1002/ajmg.1320330415]
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