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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Choroideremia" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2021/03/04" /><meta name="citation_author" content="Ian M MacDonald" /><meta name="citation_author" content="Stacey Hume" /><meta name="citation_author" content="Yi Zhai" /><meta name="citation_author" content="Manlong Xu" /><meta name="citation_pmid" content="20301511" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK1337/" /><meta name="citation_keywords" content="Rab proteins geranylgeranyltransferase component A 1" /><meta name="citation_keywords" content="CHM" /><meta name="citation_keywords" content="Choroideremia" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Choroideremia" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Ian M MacDonald" /><meta name="DC.Contributor" content="Stacey Hume" /><meta name="DC.Contributor" content="Yi Zhai" /><meta name="DC.Contributor" content="Manlong Xu" /><meta name="DC.Date" content="2021/03/04" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK1337/" /><meta name="description" content="Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination." /><meta name="og:title" content="Choroideremia" /><meta name="og:type" content="book" /><meta name="og:description" content="Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK1337/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/choroid/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK1337/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK1337_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK1337_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/x-dcdp/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/christianson/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK1337_"><span class="title" itemprop="name">Choroideremia</span></h1><p class="contrib-group"><span itemprop="author">Ian M MacDonald</span>, MD, CM, <span itemprop="author">Stacey Hume</span>, PhD, <span itemprop="author">Yi Zhai</span>, MD, PhD, and <span itemprop="author">Manlong Xu</span>, MD, PhD.</p><a data-jig="ncbitoggler" href="#__NBK1337_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK1337_ai__"><div class="contrib half_rhythm"><span itemprop="author">Ian M MacDonald</span>, MD, CM<div class="affiliation small">Professor, Department of Ophthalmology and Visual Sciences
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University of Alberta
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Edmonton, Alberta, Canada<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ac.atreblau@lanodcam" class="oemail">ac.atreblau@lanodcam</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Stacey Hume</span>, PhD<div class="affiliation small">Joint Laboratory Head and Associate Professor, Molecular Diagnostics Laboratory
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Department of Medical Genetics
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University of Alberta
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Edmonton, Alberta, Canada<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ac.atreblau@emuhs" class="oemail">ac.atreblau@emuhs</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Yi Zhai</span>, MD, PhD<div class="affiliation small">Department of Ophthalmology and Visual Sciences
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University of Alberta
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Edmonton, Alberta, Canada<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ac.atreblau@4iahzy" class="oemail">ac.atreblau@4iahzy</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Manlong Xu</span>, MD, PhD<div class="affiliation small">Department of Ophthalmology and Visual Sciences
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University of Alberta
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Edmonton, Alberta, Canada<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ac.atreblau@gnolnam" class="oemail">ac.atreblau@gnolnam</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">February 21, 2003</span>; Last Update: <span itemprop="dateModified">March 4, 2021</span>.</p><p><em>Estimated reading time: 18 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="choroid.Summary" itemprop="description"><h2 id="_choroid_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> (<a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a>) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of choroideremia is established in a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with suggestive findings and a <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in <i>CHM</i> identified by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Surgical correction of retinal detachment and cataract as needed; UV-blocking sunglasses for outdoors; appropriate dietary intake of fresh fruit, leafy green vegetables; antioxidant vitamin supplement as needed; regular intake of dietary omega-3 very-long-chain fatty acids, including docosahexaenoic acid; low vision services as needed; counseling as needed to help cope with depression, loss of independence, fitness for driving, and anxiety over employment issues.</p><p><i>Surveillance:</i> Periodic ophthalmologic examination, kinetic visual field examination, and spectral <a class="def" href="/books/n/gene/glossary/def-item/domain/">domain</a> optical coherence tomography (SD-OCT), especially when central vision is affected and cystoid macular edema is suspected.</p><p><i>Agents/circumstances to avoid:</i> UV exposure from sunlight reflected from water and snow; smoking (a major risk factor for macular degeneration).</p></div><div><h4 class="inline">Genetic counseling.</h4><p>CHM is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> manner. Affected males transmit the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> to all of their daughters and none of their sons. Heterozygous females have a 50% chance of transmitting the variant in each pregnancy: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers and will usually not be symptomatic. Once the <i>CHM</i> pathogenic variant has been identified in an affected family member, <a class="def" href="/books/n/gene/glossary/def-item/carrier-testing/">carrier testing</a> for at-risk female relatives, <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a> for a pregnancy at increased risk, and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> for choroideremia are possible.</p></div></div><div id="choroid.Diagnosis"><h2 id="_choroid_Diagnosis_">Diagnosis</h2><div id="choroid.Suggestive_Findings"><h3>Suggestive Findings</h3><p><b>The diagnosis of choroideremia (CHM) should be suspected</b> in males with the following clinical, electroretinogram (ERG), and visual field findings, and family history.</p><p>
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<b>Clinical findings</b>
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</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Defective dark adaptation.</b> Poor vision in the dark is commonly the first symptom in affected males, usually as a preteen.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Characteristic fundus appearance.</b> Patchy areas of chorioretinal degeneration generally begin in the mid-periphery of the fundus. The areas of chorioretinal degeneration progress to marked loss of the retinal pigment epithelium and choriocapillaris (inner of the two vascular layers of the choroid that is composed largely of capillaries) with preservation of the deep choroidal vessels (<a class="figpopup" href="/books/NBK1337/figure/choroid.F1/?report=objectonly" target="object" rid-figpopup="figchoroidF1" rid-ob="figobchoroidF1">Figures 1</a> and <a class="figpopup" href="/books/NBK1337/figure/choroid.F2/?report=objectonly" target="object" rid-figpopup="figchoroidF2" rid-ob="figobchoroidF2">2</a>).</div><div class="half_rhythm">Peripapillary atrophy of the RPE occurs early and is progressive [<a class="bk_pop" href="#choroid.REF.khan.2016.2158">Khan et al 2016</a>].</div><div class="half_rhythm">The function and anatomy of the central macula are preserved until late in the disease process and can be demonstrated with fundus autofluorescence imaging (<a class="figpopup" href="/books/NBK1337/figure/choroid.F3/?report=objectonly" target="object" rid-figpopup="figchoroidF3" rid-ob="figobchoroidF3">Figure 3</a>).</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col fig" id="figchoroidF1" co-legend-rid="figlgndchoroidF1"><a href="/books/NBK1337/figure/choroid.F1/?report=objectonly" target="object" title="Figure 1. " class="img_link icnblk_img figpopup" rid-figpopup="figchoroidF1" rid-ob="figobchoroidF1"><img class="small-thumb" src="/books/NBK1337/bin/choroid-Image001.gif" src-large="/books/NBK1337/bin/choroid-Image001.jpg" alt="Figure 1. " /></a><div class="icnblk_cntnt" id="figlgndchoroidF1"><h4 id="choroid.F1"><a href="/books/NBK1337/figure/choroid.F1/?report=objectonly" target="object" rid-ob="figobchoroidF1">Figure 1. </a></h4><p class="float-caption no_bottom_margin">Fundus collage image from the left eye of an affected male with light pigmentation age 36 years </p></div></div><div class="iconblock whole_rhythm clearfix ten_col fig" id="figchoroidF2" co-legend-rid="figlgndchoroidF2"><a href="/books/NBK1337/figure/choroid.F2/?report=objectonly" target="object" title="Figure 2. " class="img_link icnblk_img figpopup" rid-figpopup="figchoroidF2" rid-ob="figobchoroidF2"><img class="small-thumb" src="/books/NBK1337/bin/choroid-Image002.gif" src-large="/books/NBK1337/bin/choroid-Image002.jpg" alt="Figure 2. " /></a><div class="icnblk_cntnt" id="figlgndchoroidF2"><h4 id="choroid.F2"><a href="/books/NBK1337/figure/choroid.F2/?report=objectonly" target="object" rid-ob="figobchoroidF2">Figure 2. </a></h4><p class="float-caption no_bottom_margin">Fundus collage image from the left eye an affected male with dark pigmentation age 35 years </p></div></div><div class="iconblock whole_rhythm clearfix ten_col fig" id="figchoroidF3" co-legend-rid="figlgndchoroidF3"><a href="/books/NBK1337/figure/choroid.F3/?report=objectonly" target="object" title="Figure 3. " class="img_link icnblk_img figpopup" rid-figpopup="figchoroidF3" rid-ob="figobchoroidF3"><img class="small-thumb" src="/books/NBK1337/bin/choroid-Image003.gif" src-large="/books/NBK1337/bin/choroid-Image003.jpg" alt="Figure 3. . Fundus autofluorescence image from the left eye of an affected male age 35 years." /></a><div class="icnblk_cntnt" id="figlgndchoroidF3"><h4 id="choroid.F3"><a href="/books/NBK1337/figure/choroid.F3/?report=objectonly" target="object" rid-ob="figobchoroidF3">Figure 3. </a></h4><p class="float-caption no_bottom_margin">Fundus autofluorescence image from the left eye of an affected male age 35 years. </p></div></div><p><b>Electroretinogram (ERG)</b> of affected males may at first show a pattern of rod-cone degeneration, which eventually becomes non-recordable.</p><p><b>Peripheral visual field loss</b> manifests as a ring scotoma and generally follows changes in the fundus appearance. Areas of visual field loss closely match areas of chorioretinal degeneration.</p><p><b>Family history</b> is consistent with <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> inheritance (e.g., no male-to-male transmission). Absence of a known family history does not preclude the diagnosis.</p></div><div id="choroid.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of choroideremia <b>is established</b> in a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with suggestive findings and a <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in <i>CHM</i> identified by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> (see <a href="/books/NBK1337/table/choroid.T.molecular_genetic_testing_used/?report=objectonly" target="object" rid-ob="figobchoroidTmoleculargenetictestingused">Table 1</a>).</p><p>Note: Identification of a <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> <i>CHM</i> variant of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> does not establish or rule out a diagnosis of this disorder.</p><p>Molecular genetic testing approaches can include <b><a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted testing</b> (single-gene testing and <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a>) and <b>comprehensive</b>
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<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> (<a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a>, <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a>) depending on the <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>.</p><p>Gene-targeted testing requires that the clinician determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved, whereas <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing does not. Individuals with the distinctive findings described in <a href="#choroid.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#choroid.Option_1">Option 1</a>), whereas those in whom the diagnosis of choroideremia has not been considered are more likely to be diagnosed using genomic testing (see <a href="#choroid.Option_2">Option 2</a>).</p><div id="choroid.Option_1"><h4>Option 1</h4><p><b>Single-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> testing.</b> Sequence analysis of <i>CHM</i> is performed first to detect small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants. Depending on the <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> sequencing method used, single-exon, multiexon, or whole-gene duplications may not be detected. If no variant is detected by the sequencing method used, the next step is to perform gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> to detect exon and whole-gene deletions or duplications.</p><p><b>An inherited retinal dystrophy</b>
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<b><a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> that includes <i>CHM</i> and other genes of interest (see <a href="#choroid.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> and pathogenic variants in genes that do not explain the underlying <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. Note: (1) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, options may include a custom laboratory-designed panel and/or custom phenotype-focused genetic analysis that includes genes specified by the clinician. (4) Methods used in a panel may include <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>, and/or other non-sequencing-based tests.</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</p></div><div id="choroid.Option_2"><h4>Option 2</h4><p><b>Comprehensive</b>
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<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> does not require the clinician to determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> is likely involved. <b>Exome sequencing</b> is most commonly used; <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> is also possible.</p><p>For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div id="choroid.T.molecular_genetic_testing_used" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Choroideremia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1337/table/choroid.T.molecular_genetic_testing_used/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__choroid.T.molecular_genetic_testing_used_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>2, 3</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CHM</i>
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</td><td headers="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>4</sup></td><td headers="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Up to 75% <sup>5</sup></td></tr><tr><td headers="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Deletion/<a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> analysis <sup>6</sup></td><td headers="hd_h_choroid.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~25% <sup>7</sup></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt>1. </dt><dd><div id="choroid.TF.1.1"><p class="no_margin">See <a href="/books/NBK1337/#choroid.molgen.TA">Table A. Genes and Databases</a> for <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> and protein.</p></div></dd><dt>2. </dt><dd><div id="choroid.TF.1.2"><p class="no_margin">See <a href="#choroid.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>.</p></div></dd><dt>3. </dt><dd><div id="choroid.TF.1.3"><p class="no_margin">Additional individuals with contiguous <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions that include CHM (not included in these calculations) have been reported (see <a href="#choroid.Genetically_Related_Allelic_Diso">Genetically Related Disorders</a>).</p></div></dd><dt>4. </dt><dd><div id="choroid.TF.1.4"><p class="no_margin">Sequence analysis detects variants that are benign, <a class="def" href="/books/n/gene/glossary/def-item/likely-benign/">likely benign</a>, of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a>, <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>, or pathogenic. Variants may include small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> duplications are not detected. For issues to consider in interpretation of <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> results, click <a href="/books/n/gene/app2/">here</a>.</p></div></dd><dt>5. </dt><dd><div id="choroid.TF.1.5"><p class="no_margin"><a class="bk_pop" href="#choroid.REF.mctaggart.2002.189">McTaggart et al [2002]</a>, <a class="bk_pop" href="#choroid.REF.van_den_hurk.2003.268">van den Hurk et al [2003]</a></p></div></dd><dt>6. </dt><dd><div id="choroid.TF.1.6"><p class="no_margin">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> detects intragenic deletions or duplications. Methods used may include <a class="def" href="/books/n/gene/glossary/def-item/quantitative-pcr/">quantitative PCR</a>, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted microarray designed to detect single-<a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> deletions or duplications.</p></div></dd><dt>7. </dt><dd><div id="choroid.TF.1.7"><p class="no_margin">Copy number variants may represent up to 25% of instances in which <a class="def" href="/books/n/gene/glossary/def-item/sanger-sequencing/">Sanger sequencing</a> did not identify a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> and/or no REP1 was found with western analysis. These observations are based predominantly on persons of northern European heritage and on separate Chinese cohorts [<a class="bk_pop" href="#choroid.REF.chi.2013.229">Chi et al 2013</a>, <a class="bk_pop" href="#choroid.REF.furgoch.2014.535">Furgoch et al 2014</a>, <a class="bk_pop" href="#choroid.REF.zhou.2017.64">Zhou et al 2017</a>].</p></div></dd></dl></div></div></div></div></div></div><div id="choroid.Clinical_Characteristics"><h2 id="_choroid_Clinical_Characteristics_">Clinical Characteristics</h2><div id="choroid.Clinical_Description"><h3>Clinical Description</h3><p><b>Affected males.</b> Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males. Typically, symptoms evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Males in their 40s have very good visual acuity but only a small visual field. In a large meta-analysis of more than 1,000 eyes, transition from a slow to more rapid decline in vision occurred at age 39 years [<a class="bk_pop" href="#choroid.REF.shen.2021.271">Shen et al 2021</a>]. Later, around age 50-70 years, central vision becomes markedly impaired.</p><p>Posterior subcapsular cataracts are similar to those observed in retinitis pigmentosa.</p><p>Cystoid macular edema has been reported.</p><p><b>Heterozygous females</b> are generally asymptomatic; however, signs of retinal pigment epithelial depigmentation or atrophy can be observed with careful fundus examination. These signs become more readily apparent after the second decade. Night blindness and visual field loss can also develop later in life due to expanding areas of retinal pigment epithelial atrophy.</p><p>Symptomatic but mildly affected females are likely underreported in the literature.</p><p>Note: The terms "silent <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a>" and "<a class="def" href="/books/n/gene/glossary/def-item/manifesting-heterozygote/">manifesting heterozygote</a>" are used in the literature to refer to asymptomatic <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> females and symptomatic heterozygous females, respectively. In this <i>GeneReview</i>, the term "heterozygous female" encompasses all females with a <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (i.e., silent carriers and manifesting heterozygotes) regardless of the presence or absence of CHM-related symptoms and/or findings.</p><p>Heterozygous females may or may not show changes with ERG testing, funduscopic examination, fundus autofluorescence (at a young age, <25 years), color vision testing, and visual field testing.</p><ul><li class="half_rhythm"><div>The ERG may be normal or reduced. In seven <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> females, <a class="bk_pop" href="#choroid.REF.renner.2006">Renner et al [2006]</a> reported normal ERGs in six and reduced amplitudes in one.</div></li><li class="half_rhythm"><div>Fundoscopy may reveal pigmentary stippling and distinct chorioretinal atrophy [<a class="bk_pop" href="#choroid.REF.renner.2006">Renner et al 2006</a>].</div></li><li class="half_rhythm"><div>Color vision defects can be found using the desaturated panel D15 test [<a class="bk_pop" href="#choroid.REF.renner.2006">Renner et al 2006</a>].</div></li><li class="half_rhythm"><div>Visual fields can range from normal in the majority of <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> females to distinct field defects that mimic those of affected males [<a class="bk_pop" href="#choroid.REF.renner.2006">Renner et al 2006</a>].</div></li><li class="half_rhythm"><div>Fundus autofluorescence imaging will demonstrate patchy areas of lost fluorescence throughout the fundus [<a class="bk_pop" href="#choroid.REF.edwards.2015.1274">Edwards et al 2015</a>, <a class="bk_pop" href="#choroid.REF.jauregui.2019.77">Jauregui et al 2019</a>] (<a class="figpopup" href="/books/NBK1337/figure/choroid.F4/?report=objectonly" target="object" rid-figpopup="figchoroidF4" rid-ob="figobchoroidF4">Figure 4</a>).</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col fig" id="figchoroidF4" co-legend-rid="figlgndchoroidF4"><a href="/books/NBK1337/figure/choroid.F4/?report=objectonly" target="object" title="Figure 4. " class="img_link icnblk_img figpopup" rid-figpopup="figchoroidF4" rid-ob="figobchoroidF4"><img class="small-thumb" src="/books/NBK1337/bin/choroid-Image004.gif" src-large="/books/NBK1337/bin/choroid-Image004.jpg" alt="Figure 4. " /></a><div class="icnblk_cntnt" id="figlgndchoroidF4"><h4 id="choroid.F4"><a href="/books/NBK1337/figure/choroid.F4/?report=objectonly" target="object" rid-ob="figobchoroidF4">Figure 4. </a></h4><p class="float-caption no_bottom_margin">Fundus autofluorescence image from the right eye of a female carrier age 30 years </p></div></div><p>Heterozygous females who demonstrate clinical findings mimicking those of affected males likely have skewed <a class="def" href="/books/n/gene/glossary/def-item/x-chromosome-inactivation/">X-chromosome inactivation</a>.</p></div><div id="choroid.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>Genotype-<a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> correlations have not been demonstrated for this disorder.</p></div><div id="choroid.Prevalence"><h3>Prevalence</h3><p>Prevalence is estimated at between 1:50,000 and 1:100,000 [<a class="bk_pop" href="#choroid.REF.khan.2016.2158">Khan et al 2016</a>].</p></div></div><div id="choroid.Genetically_Related_Allelic_Diso"><h2 id="_choroid_Genetically_Related_Allelic_Diso_">Genetically Related (Allelic) Disorders</h2><p>Choroideremia (CHM) is typically an <a class="def" href="/books/n/gene/glossary/def-item/isolated/">isolated</a> clinical finding; however, it may rarely be part of a <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving Xq21.</p><ul><li class="half_rhythm"><div>Males with large interstitial deletions involving Xq21 and additional X <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> material may have CHM, severe cognitive deficits, and birth defects such as cleft lip and palate and agenesis of the corpus callosum [<a class="bk_pop" href="#choroid.REF.schwartz.1996.33">Schwartz & Rosenberg 1996</a>].</div></li><li class="half_rhythm"><div>Males who have a small <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> involving Xq21 may have CHM, mixed sensorineural and conductive hearing loss (caused by deletion of <i>POU3F4</i>), and varying degrees of cognitive deficits (caused by deletion of <i>RSK4</i>) [<a class="bk_pop" href="#choroid.REF.yntema.1999.332">Yntema et al 1999</a>].</div></li><li class="half_rhythm"><div>A <a class="def" href="/books/n/gene/glossary/def-item/contiguous-gene-deletion/">contiguous gene deletion</a> involving Xq21 in a female with premature ovarian failure and mixed conductive and sensorineural deafness resulted from a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> X;4 <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/translocation/">translocation</a> [<a class="bk_pop" href="#choroid.REF.lordasanchez.2000.185">Lorda-Sanchez et al 2000</a>].</div></li></ul></div><div id="choroid.Differential_Diagnosis"><h2 id="_choroid_Differential_Diagnosis_">Differential Diagnosis</h2><p>Choroideremia (CHM) needs to be distinguished from the inherited retinal dystrophies summarized in <a href="/books/NBK1337/table/choroid.T.genes_of_interest_in_the_diffe/?report=objectonly" target="object" rid-ob="figobchoroidTgenesofinterestinthediffe">Table 2</a>.</p><div id="choroid.T.genes_of_interest_in_the_diffe" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Genes of Interest in the Differential Diagnosis of Choroideremia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1337/table/choroid.T.genes_of_interest_in_the_diffe/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__choroid.T.genes_of_interest_in_the_diffe_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_2" style="text-align:left;vertical-align:middle;">DiffDx Disorder</th><th id="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Clinical Characteristics of DiffDx Disorder</th></tr><tr><th headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4" id="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping Features</th><th headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4" id="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing Features</th></tr></thead><tbody><tr><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~80 genes <sup>1</sup></td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/rp-overview/">Nonsyndromic retinitis pigmentosa</a> (RP)</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD<br />AR<br />XL <sup>3</sup></td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">The symptoms of RP ("night blindness" & constriction of peripheral visual field) are similar to those of CHM. In later stages of CHM, when loss of choroid & retina are significant, fundus appearance may be confused w/end-stage RP.</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">The degree of pigment migration into the retina that typifies RP is not seen in persons w/CHM.</td></tr><tr><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CDH23</i>
|
||
<br />
|
||
<i>CIB2</i>
|
||
<br />
|
||
<i>MYO7A</i>
|
||
<br />
|
||
<i>PCDH15</i>
|
||
<br />
|
||
<i>USH1C</i>
|
||
<br />
|
||
<i>USH1G</i>
|
||
</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/usher1/">Usher syndrome type 1</a> (USH1)</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">RP develops in adolescence, → progressively constricted visual fields & impaired visual acuity.</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">The scalloped areas of significant chorioretinal degeneration w/preservation of choroidal & retinal vessels typical of CHM are not seen in USH1. USH1 has features of <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a>, bilateral, profound hearing loss & vestibular areflexia. Unless fitted w/cochlear implant, persons do not typically develop speech.</td></tr><tr><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>OAT</i>
|
||
</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gyrate atrophy of choroid & retina (GACR) (OMIM <a href="https://omim.org/entry/258870" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">258870</a>)</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">The progressive nature of scalloped areas of chorioretinal atrophy in GACR may appear similar to findings in CHM.</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Persons w/GACR have ↑ plasma concentration of ornithine (not seen in persons w/CHM).</td></tr><tr><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPE65</i>
|
||
</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">RP w/choroidal involvement (RP87) (OMIM <a href="https://omim.org/entry/618697" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618697</a>)</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Stellate, scalloped areas of chorioretinal atrophy, very similar to CHM</td><td headers="hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_1_4 hd_h_choroid.T.genes_of_interest_in_the_diffe_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">RP87 is only known to be assoc w/Asp477Gly <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. <sup>4</sup></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; CHM = choroideremia; DiffDx = differential diagnosis; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; XL = <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a></p></div></dd><dt>1. </dt><dd><div id="choroid.TF.2.1"><p class="no_margin">See <a href="/books/n/gene/rp-overview/">Nonsyndromic Retinitis Pigmentosa Overview</a> and <a href="https://www.omim.org/phenotypicSeries/PS268000" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM Phenotypic Series: Retinitis pigmentosa</a>.</p></div></dd><dt>2. </dt><dd><div id="choroid.TF.2.2"><p class="no_margin">In RP, abnormalities of the photoreceptors (rods & cones) or the retinal pigment epithelium lead to progressive visual loss.</p></div></dd><dt>3. </dt><dd><div id="choroid.TF.2.3"><p class="no_margin">Very rare <a class="def" href="/books/n/gene/glossary/def-item/digenic/">digenic</a> forms also occur.</p></div></dd><dt>4. </dt><dd><div id="choroid.TF.2.4"><p class="no_margin">
|
||
<a class="bk_pop" href="#choroid.REF.bowne.2011.1074">Bowne et al [2011]</a>
|
||
</p></div></dd></dl></div></div></div></div><div id="choroid.Management"><h2 id="_choroid_Management_">Management</h2><p>No clinical practice guidelines for choroideremia have been published.</p><div id="choroid.Evaluations_Following_Initial_Di"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with choroideremia (CHM), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:</p><ul><li class="half_rhythm"><div>Ophthalmologic examination including best corrected visual acuity (BCVA), funduscopic examination, and visual field testing for a baseline</div></li><li class="half_rhythm"><div>Spectral <a class="def" href="/books/n/gene/glossary/def-item/domain/">domain</a> optical coherence tomography (SD-OCT) to evaluate and monitor the change of macular structure over time, especially ellipsoid zone (EZ), outer retinal tubulations, and chorioretinal atrophy. It is also helpful in identifying any comorbid maculopathy.</div></li><li class="half_rhythm"><div>Referral to a low vision specialist or vision rehabilitation clinic may be particularly helpful as central vision declines and/or visual field becomes limited.</div></li><li class="half_rhythm"><div>Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>, and implications of choroideremia in order to facilitate medical and personal decision making</div></li></ul></div><div id="choroid.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>Retinal detachment, which may occur more commonly in individuals with high myopia (as seen in CHM), is treated by conventional surgical techniques by an ophthalmologist.</p><p>Cataract surgery may be required for individuals with a posterior subcapsular cataract.</p><p>Rare instances of choroidal neovascularization may be treated with intravitreal bevacizumab [<a class="bk_pop" href="#choroid.REF.palejwala.2014.1675">Palejwala et al 2014</a>].</p><p>UV-blocking sunglasses may have a protective role when an affected individual is outdoors.</p><p>Low vision services are designed to benefit those whose ability to function is compromised by vision impairment. Low vision specialists, often optometrists, help optimize the use of remaining vision. Services provided vary based on age and needs.</p><p>Counseling from organizations or professionals who work with the blind and visually impaired may help the affected individual cope with issues such as depression, loss of independence, fitness for driving, and anxiety over employment issues.</p><p>Nutrition and ocular health have become increasingly topical:</p><ul><li class="half_rhythm"><div>For those individuals who do not have access to fresh fruit and leafy green vegetables, a supplement with antioxidant vitamins may be important.</div></li><li class="half_rhythm"><div>No information is available on the effectiveness of vitamin A supplementation in the treatment of CHM.</div></li><li class="half_rhythm"><div>A source of omega-3 very-long-chain fatty acids, including docosahexaenoic acid, may be beneficial, as clinical studies suggest that regular intake of fish is important.</div></li></ul></div><div id="choroid.Surveillance"><h3>Surveillance</h3><p>Regular ophthalmologic examination to monitor progression of CHM is recommended, as affected individuals need advice regarding their levels of visual function.</p><p>Kinetic visual field examinations provide practical information for both the clinician and the affected individual.</p><p>SD-OCT imaging is a fundamental clinical tool to evaluate macular structure, especially when central vision is affected and cystoid macular edema is suspected.</p></div><div id="choroid.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Avoid the following:</p><ul><li class="half_rhythm"><div>UV exposure from sunlight reflected from water and snow</div></li><li class="half_rhythm"><div>Smoking, a major risk factor for macular degeneration</div></li></ul></div><div id="choroid.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#choroid.Related_Genetic_Counseling_Issue"><u>Genetic Counseling</u></a> for issues related to testing of at-risk relatives for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> purposes.</p></div><div id="choroid.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Gene replacement therapy using a subretinal delivery of AAV2-REP1 (Nightstar Therapeutics, UK) has been trialed in the UK, Canada, US, and Germany. Reports showed some gain in visual acuity in the treated eye compared to the untreated eye. However, some individuals experienced significant complications such as retinal overstretch and postoperative inflammation. This product is currently in a Phase III trial; results are expected in the coming years [<a class="bk_pop" href="#choroid.REF.cehajic_kapetanovic.2019.738">Cehajic Kapetanovic et al 2019</a>].</p><p>Another <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> augmentation agent that is being trialed uses an intravitreal delivery of 4D-110 (4D Molecular Therapeutics, USA) in individuals with genetically confirmed choroideremia (<a href="https://clinicaltrials.gov/ct2/show/NCT04483440" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a>). The trial is estimated to be completed in 2023.</p><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions.</p></div></div><div id="choroid.Genetic_Counseling"><h2 id="_choroid_Genetic_Counseling_">Genetic Counseling</h2><p>
|
||
<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="choroid.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Choroideremia (CHM) is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> manner.</p></div><div id="choroid.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
|
||
<b>Parents of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>The father of an affected male will not have CHM nor will he be <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> for the <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>; therefore, he does not require further evaluation/testing.</div></li><li class="half_rhythm"><div>In a family with more than one affected individual, the mother of an affected male is an <a class="def" href="/books/n/gene/glossary/def-item/obligate-heterozygote/">obligate heterozygote</a>. Note: If a woman has more than one affected child and no other affected relatives and if the <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> cannot be detected in her leukocyte DNA, she most likely has <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li><li class="half_rhythm"><div>If a male is the only affected family member (i.e., a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case), the mother may be a <a class="def" href="/books/n/gene/glossary/def-item/heterozygote/">heterozygote</a>, the affected male may have a <i>de novo CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (in which case the mother is not a heterozygote), or the mother may have somatic/<a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> [<a class="bk_pop" href="#choroid.REF.van_den_hurk.2007.1587">van den Hurk et al 2007</a>].</div></li><li class="half_rhythm"><div>Evaluation of the mother is recommended to confirm her genetic status and to allow reliable <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> assessment. Evaluations of the mother include:</div><ul><li class="half_rhythm"><div>Molecular genetic testing for the <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>;</div></li><li class="half_rhythm"><div>Examination of the retina through a dilated pupil to determine if she has signs of chorioretinal degeneration; however, a normal fundus examination at a young age (<25 years) may not be sufficient to exclude <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> status (see <a href="#choroid.Clinical_Description">Clinical Description</a>, <b>Heterozygous females</b>).</div></li></ul></li></ul><p><b>Sibs of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of a male proband depends on the genetic status of the mother:</p><ul><li class="half_rhythm"><div>If the mother of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the chance of transmitting it in each pregnancy is 50%.</div><ul><li class="half_rhythm"><div class="half_rhythm">Males who inherit the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> will be affected; it is not possible to predict at what age an affected male will start to experience vision problems and how quickly the disease will progress.</div></li><li class="half_rhythm"><div class="half_rhythm">Females who inherit the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> will be heterozygotes and may or may not initially show changes with ERG testing, funduscopic examination, color vision testing, and/or visual field testing; however, with time, areas of decreased fundus autofluorescence will be seen (see <a href="#choroid.Clinical_Description">Clinical Description</a>, <b>Heterozygous females</b>).</div><div class="half_rhythm">It is not possible to predict if a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> female will manifest any vision loss. At one time, consensus held that heterozygous females experienced only mild vision disturbances later in life; however, heterozygous females may have vision loss similar to that of affected males because of skewed <a class="def" href="/books/n/gene/glossary/def-item/x-chromosome-inactivation/">X-chromosome inactivation</a>.</div></li></ul></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> represents a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case (i.e., a single occurrence in a family), if the mother has a normal fundus examination, and if the <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> cannot be detected in the leukocyte DNA of the mother, the risk to sibs is presumed to be low but greater than that of the general population because of the possibility of maternal <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> [<a class="bk_pop" href="#choroid.REF.van_den_hurk.2007.1587">van den Hurk et al 2007</a>].</div></li></ul><p><b>Offspring of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Affected males transmit the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> to all of their daughters and none of their sons.</p><p><b>Other family members.</b> The maternal aunts and maternal cousins of an affected male may be at risk of having a <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p>Note: Molecular genetic testing may be able to identify the family member in whom a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> arose, information that could help determine genetic risk status of the extended family.</p></div><div id="choroid.Heterozygote_Detection"><h3>Heterozygote Detection</h3><p><b>Molecular genetic testing.</b> Identification of female heterozygotes requires either prior identification of the <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in the family or, if an affected male is not available for testing, <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> first by <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, and if no pathogenic variant is identified, by <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>.</p><p><b>Fundus examination.</b> The retina is examined through a dilated pupil to determine if a female relative has signs of chorioretinal degeneration (see <a href="#choroid.Clinical_Description">Clinical Description</a>, <b>Heterozygous females</b>).</p><p>Note: Females who are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for this <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> disorder may not have manifestations of CHM at a young age, but most definitely will have signs after age 25 years (see <a href="#choroid.Clinical_Description">Clinical Description</a>, <b>Heterozygous females</b>).</p></div><div id="choroid.Related_Genetic_Counseling_Issue"><h3>Related Genetic Counseling Issues</h3><p>
|
||
<b>Family planning</b>
|
||
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/<a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a>, or are at risk of being heterozygous.</div></li></ul></div><div id="choroid.Prenatal_Testing_and_Preimplanta"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in an affected family member, <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a> for a pregnancy at increased risk and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> for choroideremia are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a>. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="choroid.Resources"><h2 id="_choroid_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>Choroideremia Research Foundation</b>
|
||
</div><div>23 East Brundreth Street</div><div>Springfield MA 01109-2110</div><div><b>Phone:</b> 800-210-0233</div><div><b>Email:</b> info@curechm.org</div><div>
|
||
<a href="https://curechm.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">curechm.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Foundation Fighting Blindness</b>
|
||
</div><div>7168 Columbia Gateway Drive</div><div>Suite 100</div><div>Columbia MD 21046</div><div><b>Phone:</b> 800-683-5555 (toll-free); 800-683-5551 (Toll-free TDD); 410-423-0600; 410-363-7139 (local TDD)</div><div><b>Email:</b> info@FightBlindness.org</div><div>
|
||
<a href="https://www.fightingblindness.org/diseases/choroideremia" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Choroideremia</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Library of Medicine Genetics Home Reference</b>
|
||
</div><div>
|
||
<a href="http://ghr.nlm.nih.gov/condition/choroideremia" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Choroideremia</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Eye Institute</b>
|
||
</div><div><b>Phone:</b> 301-496-5248</div><div><b>Email:</b> 2020@nei.nih.gov</div><div>
|
||
<a href="https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/low-vision" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Low Vision</a>
|
||
</div></li></ul>
|
||
</div><div id="choroid.Molecular_Genetics"><h2 id="_choroid_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div id="choroid.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Choroideremia: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1337/table/choroid.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__choroid.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_choroid.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_choroid.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_choroid.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_choroid.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_choroid.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_choroid.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_choroid.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/1121" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>CHM</i>
|
||
</a>
|
||
</td><td headers="hd_b_choroid.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=1121" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Xq21<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_b_choroid.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P24386" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Rab proteins geranylgeranyltransferase component A 1</a>
|
||
</td><td headers="hd_b_choroid.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.LOVD.nl/CHM" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Retinal and hearing impairment genetic mutation database</a>
|
||
</td><td headers="hd_b_choroid.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CHM" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CHM</a>
|
||
</td><td headers="hd_b_choroid.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=CHM[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CHM</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div id="choroid.TFA.1"><p class="no_margin">Data are compiled from the following standard references: <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> from
|
||
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
||
<a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> from
|
||
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
||
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
||
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
||
<a href="/books/n/gene/app1/">here</a>.</p></div></dd></dl></div></div></div><div id="choroid.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Choroideremia (<a href="/omim/300390,303100" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1337/table/choroid.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__choroid.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/300390" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">300390</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">CHM RAB ESCORT PROTEIN; CHM</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/303100" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">303100</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">CHOROIDEREMIA; CHM</td></tr></tbody></table></div></div><div id="choroid.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p>REP-1, the protein encoded by <i>CHM</i>, is a cytosolic protein, present in all cells. REP-1 enables lipid modification by geranylgeranylation of small GTP-binding proteins (Rabs) that are involved in cellular mechanisms of endocytosis, exocytosis, and intracellular trafficking, the processes that primarily become disordered in key pathways within the retinal pigment epithelium, but also the photoreceptors.</p><p><b>Mechanism of disease causation.</b> Loss of function. Nearly all known <i>CHM</i> pathogenic variants are <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a> variants, small deletions or insertions, or <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> alterations that predict or result in truncation of the protein product or its absence (REP-1).</p><p>An exception is the <i>CHM</i> pathogenic L1 retrotransposon <a class="def" href="/books/n/gene/glossary/def-item/insertion/">insertion</a> in <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> 6 that results in the direct <a class="def" href="/books/n/gene/glossary/def-item/splicing/">splicing</a> of exon 5 to exon 7 with maintenance of the reading frame.</p><p><b><i>CHM</i>-specific laboratory technical considerations.</b> When a clinical diagnosis of choroideremia is suspected, and no <i>CHM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted testing can be identified, RNA and western blot analysis of <i>CHM</i> expression may be considered if available in a clinical laboratory. When a lack of <i>CHM</i> expression is identified, other variants (e.g., <a class="def" href="/books/n/gene/glossary/def-item/intronic/">intronic</a>, promoter, retrotransposon <a class="def" href="/books/n/gene/glossary/def-item/insertion/">insertion</a>, and large duplications) should be suspected. These variants may be incidentally detected by routine gene-targeted testing, for example, when the <a class="def" href="/books/n/gene/glossary/def-item/pcr/">PCR</a> product is larger than expected [<a class="bk_pop" href="#choroid.REF.vach_.2019.31">Vaché et al 2019</a>] or there is a drop in coverage of <a class="def" href="/books/n/gene/glossary/def-item/next-generation-sequencing/">next-generation sequencing</a> data within <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> 2 of <i>CHM</i> [<a class="bk_pop" href="#choroid.REF.jones.2020.341">Jones et al 2020</a>].</p><div id="choroid.T.most_cited_chm_pathogenic_vari" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Most Cited <i>CHM</i> Pathogenic Variants</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1337/table/choroid.T.most_cited_chm_pathogenic_vari/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__choroid.T.most_cited_chm_pathogenic_vari_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference</th></tr></thead><tbody><tr><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000390.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000390<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000381.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000381<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.877C>T</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg293Ter</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#choroid.REF.van_bokhoven.1994.1041">van Bokhoven et al [1994]</a>
|
||
</td></tr><tr><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1580_1583delTGTT</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frameshift</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#choroid.REF.li.2014.573">Li et al [2014]</a>
|
||
</td></tr><tr><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.116+1G>T</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#choroid.REF.van_den_hurk.2003.268">van den Hurk et al [2003]</a>
|
||
</td></tr><tr><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1218 C>A</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys406Ter</td><td headers="hd_h_choroid.T.most_cited_chm_pathogenic_vari_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#choroid.REF.nesslinger.1996.47">Nesslinger et al [1996]</a>
|
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</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the authors. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>.hgvs.org</a>). See <a href="/books/n/gene/app3/">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl></div></div></div></div></div><div id="choroid.Chapter_Notes"><h2 id="_choroid_Chapter_Notes_">Chapter Notes</h2><div id="choroid.Author_Notes"><h3>Author Notes</h3><p>Ian M MacDonald, MSc, MD, CM, is Professor Emeritus in the Department of Ophthalmology and Visual Sciences, University of Alberta, and past Chair of the department for 20 years. Prior to becoming Chair in Edmonton, he was a career scientist of the Ontario Ministry of Health at the University of Ottawa. From 2007 to 2008, he served as Branch Chief of Ophthalmic Genetics and Visual Function at the National Eye Institute of the National Institutes of Health. Dr MacDonald trained in genetics as an undergraduate and postgraduate student at McGill University, Montreal. His ophthalmology residency and clinical genetics fellowship training occurred at the University of Ottawa, Queen's University, Kingston, and the Hospital for Sick Children, Toronto.</p><p>Dr MacDonald's areas of interest are inherited ocular disorders, in particular maculopathies and choroideremia. In 2009, in recognition of his work in Canada to foster the development of academic ophthalmology, he was elected as a Fellow of the Canadian Academy of Health Sciences. The Canadian College of Medical Geneticists honored him with a Lifetime Achievement Award.</p><p>CHM Gene Therapy at University of Alberta website: <a href="https://chmgenetherapy.ca" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">chmgenetherapy.ca</a></p></div><div id="choroid.Acknowledgments"><h3>Acknowledgments</h3><p>Grant funding from Fighting Blindness Canada is gratefully acknowledged. Past grant funding: CIHR, Alberta Innovates, Choroideremia Research Foundation Inc. Dr Yi Zhai received a fellowship award from the Choroideremia Research Foundation. Dr Manlong Xu received fellowship support from a grateful patient, Pat Krawchuk.</p><p>Natural History of the Progression of Choroideremia (NIGHT NCT03359551) and SOLSTICE NCT03584165 was supported by Nightstar Therapeutics and Biogen Study Group.</p><p>The choroideremia natural history study (NCT02994368) was supported by funding from 4D Molecular Therapeutics, Inc (Emeryville, CA as sponsor) and Roche Pharma AG.</p></div><div id="choroid.Author_History"><h3>Author History</h3><p>Stephanie Hoang, MSc, CGC, CCGC; University of Alberta Hospital (2015-2021)<br />Stacey Hume, PhD (2015-present)<br />Ian M MacDonald, MD, CM (2003-present) <br />Kerry McTaggart, MSc; University of Alberta (2003-2007) <br />Meira R Meltzer, MA, MS, CGC; National Eye Institute (2007-2010) <br />Miguel C Seabra, MD, PhD; Imperial College School of Medicine (2003-2021) <br />Christina Sereda, MSc; University of Alberta (2003-2007) <br />Nizar Smaoui, MD; GeneDx (2007-2015)<br />Manlong Xu, MD, PhD (2021-present)<br />Yi Zhai, MD, PhD (2021-present)</p></div><div id="choroid.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>4 March 2021 (bp) Comprehensive update posted live</div></li><li class="half_rhythm"><div>26 February 2015 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>3 June 2010 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>28 May 2008 (cd) Revision: <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a>/<a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> analysis available clinically</div></li><li class="half_rhythm"><div>3 May 2007 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>29 December 2004 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>2 January 2004 (im) Revision: testing</div></li><li class="half_rhythm"><div>7 May 2003 (im) Revision: Molecular genetic testing; <a class="def" href="/books/n/gene/glossary/def-item/prenatal-diagnosis/">prenatal diagnosis</a></div></li><li class="half_rhythm"><div>21 February 2003 (me) Review posted live</div></li><li class="half_rhythm"><div>2 December 2002 (im) Original submission</div></li></ul></div></div><div id="choroid.References"><h2 id="_choroid_References_">References</h2><div id="choroid.Published_Guidelines__Consensus"><h3>Published Guidelines / Consensus Statements</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="choroid.REF1">American Academy of Ophthalmology Task Force on Genetic Testing. Recommendations for genetic testing of inherited eye diseases – 2014. Available <a href="https://www.aao.org/clinical-statement/recommendations-genetic-testing-of-inherited-eye-d" ref="pagearea=cite-ref&targetsite=external&targetcat=link&targettype=uri">online</a>. 2014. Accessed 11-9-21. [<a href="https://pubmed.ncbi.nlm.nih.gov/22944025" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22944025</span></a>]</div></li></ul></div><div id="choroid.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.bowne.2011.1074">Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LCS, Kiang AS, Campbell M, Weinstock GM, Koboldt S, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. <span><span class="ref-journal">Eur J Hum Genet. </span>2011;<span class="ref-vol">19</span>:1074–81.</span> [<a href="/pmc/articles/PMC3190249/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3190249</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21654732" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21654732</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.cehajic_kapetanovic.2019.738">Cehajic Kapetanovic J, Barnard AR, MacLaren RE. Molecular therapies for choroideremia. <span><span class="ref-journal">Genes (Basel). </span>2019;<span class="ref-vol">10</span>:738.</span> [<a href="/pmc/articles/PMC6826983/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6826983</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31548516" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31548516</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.chi.2013.229">Chi JY, MacDonald IM, Hume S. Copy number variant analysis in CHM to detect duplications underlying choroideremia. <span><span class="ref-journal">Ophthalmic Genet. </span>2013;<span class="ref-vol">34</span>:229–33.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23273018" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23273018</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.edwards.2015.1274">Edwards TL, Groppe M, Jolly JK, Downes SM, MacLaren RE. Correlation of retinal structure and function in choroideremia carriers. <span><span class="ref-journal">Ophthalmology. </span>2015;<span class="ref-vol">122</span>:1274–76.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25682176" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25682176</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.furgoch.2014.535">Furgoch MJ, Mewes-Arès J, Radziwon A, MacDonald IM. Molecular genetic diagnostic techniques in choroideremia. <span><span class="ref-journal">Mol Vis. </span>2014;<span class="ref-vol">20</span>:535–44.</span> [<a href="/pmc/articles/PMC4000712/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4000712</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24791138" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24791138</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.jauregui.2019.77">Jauregui R, Park KS, Tanaka AJ, Cho A, Paavo M, Zernant J, Francis JH, Allikmets R, Sparrow JR, Tsang SH. Spectrum of disease severity and phenotype in choroideremia carriers. <span><span class="ref-journal">Am J Ophthalmol. </span>2019;<span class="ref-vol">207</span>:77–86.</span> [<a href="/pmc/articles/PMC7579725/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7579725</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31181178" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31181178</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.jones.2020.341">Jones KD, Radziwon A, Birch DG, MacDonald IM. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. <span><span class="ref-journal">Ophthalmic Genet. </span>2020;<span class="ref-vol">41</span>:341–4.</span> [<a href="/pmc/articles/PMC7375010/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7375010</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32441177" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32441177</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.khan.2016.2158">Khan KN, Islam F, Moore AT, Michaelides M. Clinical and genetic features of choroideremia in childhood. <span><span class="ref-journal">Ophthalmology. </span>2016;<span class="ref-vol">123</span>:2158–65.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27506488" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27506488</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.li.2014.573">Li S, Guan L, Fang S, Jiang H, Xiao X, Yang J, Wang P, Yin Y, Guo X, Wang J, Zhang J, Zhang Q. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. <span><span class="ref-journal">Int J Mol Med. </span>2014;<span class="ref-vol">34</span>:573–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24913019" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24913019</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.lordasanchez.2000.185">Lorda-Sanchez IJ, Ibanez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. <span><span class="ref-journal">Ophthalmic Genet. </span>2000;<span class="ref-vol">21</span>:185–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11035551" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11035551</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.mctaggart.2002.189">McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. <span><span class="ref-journal">Hum Mutat. </span>2002;<span class="ref-vol">20</span>:189–96.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12203991" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12203991</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.nesslinger.1996.47">Nesslinger N, Mitchell G, Strasberg P, MacDonald IM. Mutation analysis in Canadian families with choroideremia. <span><span class="ref-journal">Ophthalmic Genet. </span>1996;<span class="ref-vol">17</span>:47–52.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8832720" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8832720</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.palejwala.2014.1675">Palejwala NV, Lauer AK, Weleber RG. Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab. <span><span class="ref-journal">Clin Ophthalmol. </span>2014;<span class="ref-vol">8</span>:1675–9.</span> [<a href="/pmc/articles/PMC4159397/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4159397</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25214760" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25214760</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.renner.2006">Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH (2006) Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology. 113:2066-73.e1-10. [<a href="https://pubmed.ncbi.nlm.nih.gov/16935340" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16935340</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.schwartz.1996.33">Schwartz M, Rosenberg T. Prenatal diagnosis of choroideremia. <span><span class="ref-journal">Acta Ophthalmol Scand Suppl. </span>1996;<span class="ref-vol">219</span>:33–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8741114" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8741114</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.shen.2021.271">Shen LL, Ahluwalia A, Sun M, Young BK, Nardini HKG, Del Priore LV. Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes. <span><span class="ref-journal">Br J Ophthalmol. </span>2021;<span class="ref-vol">105</span>:271–8.</span> [<a href="/pmc/articles/PMC7704705/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7704705</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32471821" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32471821</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.vach_.2019.31">Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. <span><span class="ref-journal">Hum Mutat. </span>2019;<span class="ref-vol">40</span>:31–5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30341801" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30341801</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.van_bokhoven.1994.1041">van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. Cloning and characterization of the human choroideremia gene. <span><span class="ref-journal">Hum Mol Genet. </span>1994;<span class="ref-vol">3</span>:1041–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7981670" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7981670</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.van_den_hurk.2007.1587">van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP. L1 retrotransposition can occur early in human embryonic development. <span><span class="ref-journal">Hum Mol Genet. </span>2007;<span class="ref-vol">16</span>:1587–92.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17483097" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17483097</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.van_den_hurk.2003.268">van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. <span><span class="ref-journal">Hum Genet. </span>2003;<span class="ref-vol">113</span>:268–75.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12827496" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12827496</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.yntema.1999.332">Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. <span><span class="ref-journal">Genomics. </span>1999;<span class="ref-vol">62</span>:332–43.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10644430" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10644430</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="choroid.REF.zhou.2017.64">Zhou Q, Yao F, Han X, Li H, Yang L, Sui R. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients. <span><span class="ref-journal">Exp Eye Res. </span>2017;<span class="ref-vol">164</span>:64–73.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28774736" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28774736</span></a>]</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK1337/?report=reader">PubReader</a></li><li><a href="/books/NBK1337/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK1337" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK1337" style="display:none" title="Cite this Page"><div class="bk_tt">MacDonald IM, Hume S, Zhai Y, et al. Choroideremia. 2003 Feb 21 [Updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></div></div></li><li><a href="/books/NBK1337/pdf/Bookshelf_NBK1337.pdf">PDF version of this page</a> (2.0M)</li><li><a href="#" class="toggle-glossary-link" title="Enable/disable links to the glossary">Disable Glossary Links</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>In this GeneReview</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="page-toc" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="#choroid.Summary" ref="log$=inpage&link_id=inpage">Summary</a></li><li><a href="#choroid.Diagnosis" ref="log$=inpage&link_id=inpage">Diagnosis</a></li><li><a href="#choroid.Clinical_Characteristics" ref="log$=inpage&link_id=inpage">Clinical Characteristics</a></li><li><a href="#choroid.Genetically_Related_Allelic_Diso" ref="log$=inpage&link_id=inpage">Genetically Related (Allelic) Disorders</a></li><li><a href="#choroid.Differential_Diagnosis" ref="log$=inpage&link_id=inpage">Differential Diagnosis</a></li><li><a href="#choroid.Management" ref="log$=inpage&link_id=inpage">Management</a></li><li><a href="#choroid.Genetic_Counseling" ref="log$=inpage&link_id=inpage">Genetic Counseling</a></li><li><a href="#choroid.Resources" ref="log$=inpage&link_id=inpage">Resources</a></li><li><a href="#choroid.Molecular_Genetics" ref="log$=inpage&link_id=inpage">Molecular Genetics</a></li><li><a href="#choroid.Chapter_Notes" ref="log$=inpage&link_id=inpage">Chapter Notes</a></li><li><a href="#choroid.References" ref="log$=inpage&link_id=inpage">References</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Bulk Download</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="https://ftp.ncbi.nlm.nih.gov/pub/litarch/ca/84/" ref="pagearea=source-links&targetsite=external&targetcat=link&targettype=uri">Bulk download GeneReviews data from FTP</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>GeneReviews Links</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="source-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/n/gene/advanced/"><i>GeneReviews</i> Advanced Search</a></li><li><a href="/books/n/gene/glossary/"><i>GeneReviews</i> Glossary</a></li><li><a href="/books/n/gene/resource_mats/">Resource Materials</a> <span class="bk_hlight1">NEW FEATURE</span></li><li><a href="/books/n/gene/updates/">New in <i>GeneReviews</i></a></li><li><a href="/books/n/gene/authors/">Author List</a></li><li><a href="/books/n/gene/prospective_authors/">For Current/Prospective Authors</a></li><li><a href="/books/n/gene/GRpersonnel/"><i>GeneReviews</i> Personnel</a></li><li><a href="/books/n/gene/howto_linkin/">Download/Link to <i>GeneReviews</i></a></li><li><a href="/books/n/gene/contact_us/">Contact Us</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Tests in GTR by Gene</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
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</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=medgen&DbFrom=books&Cmd=Link&LinkName=books_medgen&IdsFromResult=1497410" ref="log$=recordlinks">MedGen</a><div class="brieflinkpop offscreen_noflow">Related information in MedGen</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=omim&DbFrom=books&Cmd=Link&LinkName=books_omim&IdsFromResult=1497410" ref="log$=recordlinks">OMIM</a><div class="brieflinkpop offscreen_noflow">Related OMIM records</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=1497410" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=1497410" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=gene&DbFrom=books&Cmd=Link&LinkName=books_gene&IdsFromResult=1497410" ref="log$=recordlinks">Gene</a><div class="brieflinkpop offscreen_noflow">Locus Links</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/24006547" ref="ordinalpos=1&linkpos=1&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Ornithine Transcarbamylase Deficiency.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Ornithine Transcarbamylase Deficiency.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Lichter-Konecki U, Caldovic L, Morizono H, Simpson K, Ah Mew N, MacLeod E. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301668" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia B.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia B.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Konkle BA, Nakaya Fletcher S. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301578" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia A.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia A.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Konkle BA, Nakaya Fletcher S. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/22319799" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> X-Linked Hypophosphatemia.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> X-Linked Hypophosphatemia.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Laurent MR, Harvengt P, Mortier GR, Böckenhauer D. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301469" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Fabry Disease.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Fabry Disease.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Mehta A, Hughes DA. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=20301511" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=20301511" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d36c52cde49f3df7775c3b">Choroideremia - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Choroideremia - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d36c512f30673f7b99b1aa">Table 3. [Most Cited CHM Pathogenic Variants]. - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Table 3. [Most Cited CHM Pathogenic Variants]. - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d36c502f30673f7b99aeef">Table B. [OMIM Entries for Choroideremia (View All in OMIM)]. - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Choroideremia (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d36c4167c23b31e05a7043">RecName: Full=Rab proteins geranylgeranyltransferase component A 1; AltName: Ful...</a><div class="ralinkpop offscreen_noflow">RecName: Full=Rab proteins geranylgeranyltransferase component A 1; AltName: Full=Choroideremia protein; AltName: Full=Rab escort protein 1; Short=REP-1; AltName: Full=TCD protein<div class="brieflinkpopdesc">gi|21431807|sp|P24386.3|RAE1_HUMAN</div></div><div class="tertiary">Protein</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d36c3167c23b31e05a115f">Choroideremia</a><div class="ralinkpop offscreen_noflow">Choroideremia<div class="brieflinkpopdesc"></div></div><div class="tertiary">MedGen</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
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