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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>X-Linked Congenital Stationary Night Blindness - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
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<meta name="citation_title" content="X-Linked Congenital Stationary Night Blindness">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2019/07/03">
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<meta name="citation_author" content="Ian M MacDonald">
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<meta name="citation_author" content="Stephanie Hoang">
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<meta name="citation_author" content="Sari Tuupanen">
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<meta name="citation_keywords" content="X-Linked CSNB">
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<meta name="citation_keywords" content="X-Linked CSNB">
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<meta name="citation_keywords" content="Nyctalopin">
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<meta name="citation_keywords" content="Voltage-dependent L-type calcium channel subunit alpha-1F">
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<meta name="citation_keywords" content="X-Linked Congenital Stationary Night Blindness">
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<meta name="DC.Title" content="X-Linked Congenital Stationary Night Blindness">
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<meta name="DC.Contributor" content="Ian M MacDonald">
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<meta name="DC.Contributor" content="Stephanie Hoang">
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<meta name="DC.Contributor" content="Sari Tuupanen">
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<meta name="description" content="X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.">
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yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK1245_"><span class="title" itemprop="name">X-Linked Congenital Stationary Night Blindness</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonym: X-Linked CSNB</div><p class="contribs">MacDonald IM, Hoang S, Tuupanen S.</p><p class="fm-aai"><a href="#_NBK1245_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 18 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="csnb.Summary" itemprop="description"><h2 id="_csnb_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of X-linked CSNB is established in a male proband with characteristic clinical and electroretinogram (ERG) findings and a family history consistent with X-linked inheritance. Identification of a hemizygous pathogenic variant in <i>CACNA1F</i> or <i>NYX</i> by molecular genetic testing can confirm the diagnosis if clinical features are inconclusive. The diagnosis of X-linked CSNB may be established in a female proband with ERG findings suggestive of X-linked CSNB and identification of a heterozygous or biallelic pathogenic variant in <i>CACNA1F</i> or <i>NYX</i> by molecular genetic testing.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Glasses or contact lenses to treat refractive error (myopia or hyperopia); conventional strabismus surgery may be required to improve binocularity or head posture.</p><p><i>Surveillance:</i> At a young age yearly eye examinations with refraction to identify and treat myopia as early as possible.</p><p><i>Agents/circumstances to avoid:</i> Reduced visual acuity and difficulties seeing at night may preclude driving a car or restrict the class of driving license.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>By definition, X-linked CSNB is inherited in an X-linked manner. The father of an affected male will not have X-linked CSNB nor will he be hemizygous for the pathogenic variant. If the mother of the proband is a carrier, the chance of transmitting the pathogenic variant in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers and will usually not be affected. Males with X-linked CSNB will pass the pathogenic variant to all of their daughters and none of their sons. Carrier testing for at-risk relatives and prenatal testing for a pregnancy at increased risk are possible for families in which the pathogenic variant has been identified.</p></div></div><div id="csnb.Diagnosis"><h2 id="_csnb_Diagnosis_">Diagnosis</h2><div id="csnb.Suggestive_Findings"><h3>Suggestive Findings</h3><p><b>Males.</b> X-linked congenital stationary night blindness (CSNB) <b>should be suspected in a male</b>
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<b>proband</b> with the following characteristic clinical and electroretinogram (ERG) findings characteristicec of complete X-linked CSNB or incomplete X-linked CSNB (see <a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object" rid-ob="figobcsnbTelectroretinogramfindingsincom">Table 1</a>):</p><p>Characteristic clinical findings:</p><ul><li class="half_rhythm"><div>Reduced visual acuity</div></li><li class="half_rhythm"><div>Night blindness</div></li><li class="half_rhythm"><div>Myopia</div></li><li class="half_rhythm"><div>Nystagmus (not universal) and strabismus (50%-70%)</div></li><li class="half_rhythm"><div>Normal color vision</div></li><li class="half_rhythm"><div>Normal fundus examination</div></li><li class="half_rhythm"><div>Family history consistent with X-linked inheritance</div></li></ul><p>Characteristic findings on ERG examination:</p><ul><li class="half_rhythm"><div>ERG is used to assess the changes in electrical activity of the retina in response to light. The b-wave is caused by the depolarization of ON bipolar cells in response to light stimuli and is strictly dependent on synaptic transmission from photoreceptors to ON bipolar cells.</div></li><li class="half_rhythm"><div>Individuals with X-linked CSNB have reduced scotopic b-wave amplitudes in response to bright flashes after dark adaptation (<a class="figpopup" href="/books/NBK1245/figure/csnb.F1/?report=objectonly" target="object" rid-figpopup="figcsnbF1" rid-ob="figobcsnbF1">Figure 1</a>). The resulting ERG waveform is essentially a negative wave (amplitude of the a-wave is larger than the b-wave, not reaching the baseline) [<a class="bibr" href="#csnb.REF.miyake.1986.1013" rid="csnb.REF.miyake.1986.1013">Miyake et al 1986</a>], referred to as the Schubert-Bornschein form [<a class="bibr" href="#csnb.REF.schubert.1952.396" rid="csnb.REF.schubert.1952.396">Schubert & Bornschein 1952</a>].</div></li><li class="half_rhythm"><div>The ERG can define specific retinal dysfunctions and, in general, differentiate the forms of X-linked CSNB (<a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object" rid-ob="figobcsnbTelectroretinogramfindingsincom">Table 1</a>), thereby identifying the gene most likely to be involved (see <a href="#csnb.Establishing_the_Diagnosis">Establishing the Diagnosis</a>).</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col fig" id="figcsnbF1" co-legend-rid="figlgndcsnbF1"><a href="/books/NBK1245/figure/csnb.F1/?report=objectonly" target="object" title="Figure 1. " class="img_link icnblk_img figpopup" rid-figpopup="figcsnbF1" rid-ob="figobcsnbF1"><img class="small-thumb" src="/books/NBK1245/bin/csnb-Image001.gif" src-large="/books/NBK1245/bin/csnb-Image001.jpg" alt="Figure 1. " /></a><div class="icnblk_cntnt" id="figlgndcsnbF1"><h4 id="csnb.F1"><a href="/books/NBK1245/figure/csnb.F1/?report=objectonly" target="object" rid-ob="figobcsnbF1">Figure 1. </a></h4><p class="float-caption no_bottom_margin">Representative full-field ERGs recorded from three males: A. Age 35 years, unaffected</p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcsnbTelectroretinogramfindingsincom"><a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobcsnbTelectroretinogramfindingsincom"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="csnb.T.electroretinogram_findings_in_com"><a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object" rid-ob="figobcsnbTelectroretinogramfindingsincom">Table 1. </a></h4><p class="float-caption no_bottom_margin">Electroretinogram Findings in Complete and Incomplete X-Linked Congenital Stationary Night Blindness </p></div></div><p>Note: Pupillary responses have been described in the literature and in textbooks as "paradoxic" (i.e., miosis of pupils when lights are turned off, as opposed to dilation). This description predates genotyping. In 17 individuals with incomplete X-linked CSNB ages five to 51 years examined by one of the authors, none clearly demonstrated a paradoxic pupillary response. Further clarification of the presence or absence of this phenomenon in individuals with X-linked CSNB may require measurement with pupillometry.</p><p><b>Heterozygous females.</b> X-linked CSNB <b>should be suspected in a female</b>
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<b>proband</b> with the following ERG findings (observed in some heterozygous females):</p><ul><li class="half_rhythm"><div>Reduced oscillatory potentials (OPs) associated with rod activity [<a class="bibr" href="#csnb.REF.rigaudi_re.2003.203" rid="csnb.REF.rigaudi_re.2003.203">Rigaudière et al 2003</a>]</div></li><li class="half_rhythm"><div>Reduced b-wave amplitudes (with unaffected OPs) in one heterozygous female [<a class="bibr" href="#csnb.REF.rigaudi_re.2003.203" rid="csnb.REF.rigaudi_re.2003.203">Rigaudière et al 2003</a>]</div></li></ul></div><div id="csnb.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p><b>Male proband.</b> The diagnosis of X-linked CSNB <b>is established in a male</b>
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<b>proband</b> with the characteristic clinical and ERG findings described in <a href="#csnb.Suggestive_Findings">Suggestive Findings</a> and a family history consistent with X-linked inheritance. Identification of a hemizygous pathogenic variant in <i>CACNA1F</i> or <i>NYX</i> by molecular genetic testing can confirm the diagnosis if clinical features are inconclusive (see <a href="/books/NBK1245/table/csnb.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" rid-ob="figobcsnbTmoleculargenetictestingusedin">Table 2</a>).</p><p><b>Female proband.</b> The diagnosis of X-linked CSNB <b>may be established in a female</b>
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<b>proband</b> with ERG findings suggestive of X-linked CSNB and a heterozygous or biallelic pathogenic variant in <i>CACNA1F</i> or <i>NYX</i> identified by molecular genetic testing (see <a href="/books/NBK1245/table/csnb.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" rid-ob="figobcsnbTmoleculargenetictestingusedin">Table 2</a>).</p><div id="csnb.Molecular_Genetic_Testing"><h4>Molecular Genetic Testing</h4><p>Approaches can include <b>serial single-gene testing</b> (recommended in individuals with a clear family history consistent with X-linked inheritance) or a <b>multigene panel</b> (recommended in individuals without a clear family history consistent with X-linked inheritance).</p><p><b>Serial single-gene testing.</b> For individuals with a clear family history consistent with X-linked inheritance, ERG findings can be used to direct molecular genetic testing to the appropriate gene (see <a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object" rid-ob="figobcsnbTelectroretinogramfindingsincom">Table 1</a>).</p><ul><li class="half_rhythm"><div>Sequence analysis of <i>NYX</i> should be performed first in individuals with ERG findings consistent with <b>complete X-linked CSNB</b> to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. If no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications.</div></li><li class="half_rhythm"><div>Sequence analysis of <i>CACNA1F</i> should be performed first in individuals with ERG findings consistent with <b>incomplete X-linked CSNB</b> to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. If no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications.</div></li></ul><p>Note: <b>Targeted analysis</b> for the <i>CACNA1F</i> founder variant <a href="/books/NBK1245/table/csnb.T.xlinked_congenital_stationary_nig/?report=objectonly" target="object" rid-ob="figobcsnbTxlinkedcongenitalstationarynig">c.3167_3168dupC</a> can be performed first in individuals of Dutch-German Mennonite ancestry [<a class="bibr" href="#csnb.REF.bechhansen.1998.264" rid="csnb.REF.bechhansen.1998.264">Bech-Hansen et al 1998</a>, <a class="bibr" href="#csnb.REF.boycott.2000.204" rid="csnb.REF.boycott.2000.204">Boycott et al 2000</a>].</p><p><b>Multigene panel.</b> For individuals without a clear family history consistent with X-linked inheritance, a CSNB multigene panel that includes <i>CACNA1F</i>, <i>NYX</i>, and other genes of interest (see <a href="#csnb.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene 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, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see <a href="/books/NBK1245/table/csnb.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" rid-ob="figobcsnbTmoleculargenetictestingusedin">Table 2</a>).</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcsnbTmoleculargenetictestingusedin"><a href="/books/NBK1245/table/csnb.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobcsnbTmoleculargenetictestingusedin"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="csnb.T.molecular_genetic_testing_used_in"><a href="/books/NBK1245/table/csnb.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" rid-ob="figobcsnbTmoleculargenetictestingusedin">Table 2. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in X-Linked Congenital Stationary Night Blindness </p></div></div></div></div></div><div id="csnb.Clinical_Characteristics"><h2 id="_csnb_Clinical_Characteristics_">Clinical Characteristics</h2><div id="csnb.Clinical_Description"><h3>Clinical Description</h3><p>X-linked congenital stationary night blindness (CSNB) is a congenital non-progressive retinal disorder characterized by defective night vision, reduced visual acuity, myopia, nystagmus, and strabismus that primarily affects males.</p><div id="csnb.Males"><h4>Males</h4><p><b>Reduced visual acuity.</b> Vision is reduced in all affected males in the range of 20/30 (6/9; log MAR 0.1) to 20/200 (6/60; log MAR 1.0).</p><p><b>Defective dark adaptation.</b> Night blindness is a subjective finding. Individuals with <i>NYX</i> X-linked CSNB generally report severe night blindness. Individuals with <i>CACNA1F</i> X-linked CSNB do not uniformly report severe night blindness.</p><p><b>Myopia</b> may range from low (-0.25 diopters [D] to -4.75 D) to high (≥ -10.00 D) [<a class="bibr" href="#csnb.REF.boycott.2000.204" rid="csnb.REF.boycott.2000.204">Boycott et al 2000</a>, <a class="bibr" href="#csnb.REF.allen.2003.1413" rid="csnb.REF.allen.2003.1413">Allen et al 2003</a>]. A few affected individuals have hyperopia.</p><p><b>Nystagmus and strabismus</b> are reported in 50%-70% of affected individuals [<a class="bibr" href="#csnb.REF.boycott.2000.204" rid="csnb.REF.boycott.2000.204">Boycott et al 2000</a>, <a class="bibr" href="#csnb.REF.allen.2003.1413" rid="csnb.REF.allen.2003.1413">Allen et al 2003</a>]. Transient head posture with nystagmus was noted in the first two years of life in eight individuals with <i>CACNA1F</i> X-linked CSNB and one with <i>NYX</i> X-linked CSNB [<a class="bibr" href="#csnb.REF.simonsz.2009.158" rid="csnb.REF.simonsz.2009.158">Simonsz et al 2009</a>].</p><p>In a large Mennonite cohort with incomplete (i.e., <i>CACNA1F</i>) X-linked CSNB, at least one of the following was <b>not</b> present in 72% of individuals: myopia, nystagmus, or night blindness [<a class="bibr" href="#csnb.REF.boycott.2000.204" rid="csnb.REF.boycott.2000.204">Boycott et al 2000</a>].</p><p><b>Normal color vision</b> is present in most individuals. Individuals with a severe X-linked CSNB may show mild color vision deficits.</p><p><b>Normal fundus examination</b> is present in most individuals, although those with high myopia may show myopic degeneration.</p><p>
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<b>Females</b>
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</p><ul><li class="half_rhythm"><div>In general, heterozygous females do not exhibit clinical signs of X-linked CSNB.</div></li><li class="half_rhythm"><div>Females who are homozygous for pathogenic variants in <i>CACNA1F</i> with features similar to those in males have been reported [<a class="bibr" href="#csnb.REF.bechhansen.1998.264" rid="csnb.REF.bechhansen.1998.264">Bech-Hansen et al 1998</a>].</div></li></ul></div></div><div id="csnb.Phenotype_Correlations_by_Gene"><h3>Phenotype Correlations by Gene</h3><p><b><i>NYX</i></b> pathogenic variants are associated with the complete form of X-linked CSNB (see <a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object" rid-ob="figobcsnbTelectroretinogramfindingsincom">Table 1</a>) [<a class="bibr" href="#csnb.REF.bechhansen.2000.319" rid="csnb.REF.bechhansen.2000.319">Bech-Hansen et al 2000</a>, <a class="bibr" href="#csnb.REF.pusch.2000.324" rid="csnb.REF.pusch.2000.324">Pusch et al 2000</a>]. Individuals with <i>NYX</i> X-linked CSNB generally report severe night blindness.</p><p><b><i>CACNA1F</i></b> pathogenic variants are associated with the incomplete form of X-linked CSNB [<a class="bibr" href="#csnb.REF.bechhansen.1998.264" rid="csnb.REF.bechhansen.1998.264">Bech-Hansen et al 1998</a>, <a class="bibr" href="#csnb.REF.strom.1998.260" rid="csnb.REF.strom.1998.260">Strom et al 1998</a>] (see <a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object" rid-ob="figobcsnbTelectroretinogramfindingsincom">Table 1</a>). Individuals with <i>CACNA1F</i> X-linked CSNB do not uniformly report severe night blindness.</p></div><div id="csnb.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>No genotype-phenotype correlations are known.</p></div><div id="csnb.Penetrance"><h3>Penetrance</h3><p>Penetrance of X-linked CSNB is probably 100%, but expressivity is variable [<a class="bibr" href="#csnb.REF.boycott.2000.204" rid="csnb.REF.boycott.2000.204">Boycott et al 2000</a>]; individuals with mild presentations may be missed if electroretinography is not performed.</p></div><div id="csnb.Nomenclature"><h3>Nomenclature</h3><p>X-linked CSNB has in the past been referred to as Schubert-Bornschein CSNB, which is a reference to the characteristic "negative" waveform (a-wave larger than the b-wave in response to a bright flash in the scotopic state) of the ERG seen in both X-linked forms of CSNB [<a class="bibr" href="#csnb.REF.schubert.1952.396" rid="csnb.REF.schubert.1952.396">Schubert & Bornschein 1952</a>].</p><p>The terms "CSNB1" and "CSNB2" are sometimes used as abbreviations for complete and incomplete CSNB irrespective of the mode of inheritance; originally the terms referred to the two X-linked entities of CSNB.</p></div><div id="csnb.Prevalence"><h3>Prevalence</h3><p>The prevalence of X-linked CSNB is not known.</p><p>A <b><i>CACNA1F</i></b> founder variant, <a href="/books/NBK1245/table/csnb.T.xlinked_congenital_stationary_nig/?report=objectonly" target="object" rid-ob="figobcsnbTxlinkedcongenitalstationarynig">c.3166dupC</a> (alias: c.3167_3168dupC), has been reported in individuals of Dutch-German Mennonite descent [<a class="bibr" href="#csnb.REF.bechhansen.1998.264" rid="csnb.REF.bechhansen.1998.264">Bech-Hansen et al 1998</a>, <a class="bibr" href="#csnb.REF.boycott.1998.865" rid="csnb.REF.boycott.1998.865">Boycott et al 1998</a>, <a class="bibr" href="#csnb.REF.boycott.2000.204" rid="csnb.REF.boycott.2000.204">Boycott et al 2000</a>].</p><p>A common pathogenic variant in <b><i>NYX</i></b>, <a href="/books/NBK1245/table/csnb.T.xlinked_congenital_stationary_nig/?report=objectonly" target="object" rid-ob="figobcsnbTxlinkedcongenitalstationarynig">c.856delG</a>, has been identified in Flemish individuals from Belgium [<a class="bibr" href="#csnb.REF.leroy.2009.692" rid="csnb.REF.leroy.2009.692">Leroy et al 2009</a>].</p><p>A common founder variant in <b><i>NYX</i></b>, <a href="/books/NBK1245/table/csnb.T.xlinked_congenital_stationary_nig/?report=objectonly" target="object" rid-ob="figobcsnbTxlinkedcongenitalstationarynig">c.85_108del</a>, has been identified in the United States [<a class="bibr" href="#csnb.REF.bechhansen.2000.319" rid="csnb.REF.bechhansen.2000.319">Bech-Hansen et al 2000</a>].</p></div></div><div id="csnb.Genetically_Related_Allelic_Disorde"><h2 id="_csnb_Genetically_Related_Allelic_Disorde_">Genetically Related (Allelic) Disorders</h2><p><b><i>NYX</i>.</b> One other phenotype may be associated with mutation of <i>NYX</i>. High myopia in two unrelated males was associated with two novel pathogenic missense variants in <i>NYX</i>, suggesting that pathogenic variants in <i>NYX</i> may contribute to high myopia without additional features of X-linked CSNB [<a class="bibr" href="#csnb.REF.zhang.2007.330" rid="csnb.REF.zhang.2007.330">Zhang et al 2007</a>]. This observation needs to be substantiated by further studies.</p><p><b><i>CACNA1F</i>.</b> Retinal and optic atrophy, associated with progressive visual decline, has been described in two Japanese brothers [<a class="bibr" href="#csnb.REF.nakamura.2003.1028" rid="csnb.REF.nakamura.2003.1028">Nakamura et al 2003</a>].</p><p>Other phenotypes associated with germline pathogenic variants in <i>CACNA1F</i> are summarized in <a href="/books/NBK1245/table/csnb.T.other_cacna1frelated_disorders_to/?report=objectonly" target="object" rid-ob="figobcsnbTothercacna1frelateddisordersto">Table 3</a>. Disorders included in <a href="/books/NBK1245/table/csnb.T.other_cacna1frelated_disorders_to/?report=objectonly" target="object" rid-ob="figobcsnbTothercacna1frelateddisordersto">Table 3</a> have overlapping phenotypic features with X-linked congenital stationary night blindness and should be considered in the differential diagnosis.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcsnbTothercacna1frelateddisordersto"><a href="/books/NBK1245/table/csnb.T.other_cacna1frelated_disorders_to/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobcsnbTothercacna1frelateddisordersto"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="csnb.T.other_cacna1frelated_disorders_to"><a href="/books/NBK1245/table/csnb.T.other_cacna1frelated_disorders_to/?report=objectonly" target="object" rid-ob="figobcsnbTothercacna1frelateddisordersto">Table 3. </a></h4><p class="float-caption no_bottom_margin">Other <i>CACNA1F</i>-Related Disorders to Consider in the Differential Diagnosis of X-Linked Congenital Stationary Night Blindness </p></div></div></div><div id="csnb.Differential_Diagnosis"><h2 id="_csnb_Differential_Diagnosis_">Differential Diagnosis</h2><p>Only a few conditions may initially be confused with the X-linked form of congenital stationary night blindness (CSNB).</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcsnbTdisorderstoconsiderinthediff"><a href="/books/NBK1245/table/csnb.T.disorders_to_consider_in_the_diff/?report=objectonly" target="object" title="Table 4. " class="img_link icnblk_img" rid-ob="figobcsnbTdisorderstoconsiderinthediff"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="csnb.T.disorders_to_consider_in_the_diff"><a href="/books/NBK1245/table/csnb.T.disorders_to_consider_in_the_diff/?report=objectonly" target="object" rid-ob="figobcsnbTdisorderstoconsiderinthediff">Table 4. </a></h4><p class="float-caption no_bottom_margin">Disorders to Consider in the Differential Diagnosis of X-Linked Congenital Stationary Night Blindness </p></div></div></div><div id="csnb.Management"><h2 id="_csnb_Management_">Management</h2><div id="csnb.Evaluations_Following_Initial_Diagn"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease in an individual diagnosed with X-linked congenital stationary night blindness (CSNB), 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</div></li><li class="half_rhythm"><div>Electroretinography</div></li><li class="half_rhythm"><div>Dark adaptation (optional)</div></li><li class="half_rhythm"><div>Consultation with a clinical geneticist and/or genetic counselor</div></li></ul></div><div id="csnb.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>Coincident high myopia or hyperopia can be managed with glasses or contact lenses.</p><p>Occasionally, a boy with X-linked CSNB may adopt a cosmetically unacceptable or functionally awkward head posture to dampen the degree of nystagmus in a particular position of gaze (the so-called "null point"). In some instances the position of gaze for the null point may be shifted to a better functional range by carefully planned strabismus surgery.</p></div><div id="csnb.Surveillance"><h3>Surveillance</h3><p>Regular (yearly) eye examinations are recommended with refraction at a young age to monitor for the development of myopia.</p></div><div id="csnb.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Reduced visual acuity and difficulties seeing at night may preclude driving a car or restrict the class of driving license.</p></div><div id="csnb.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>For infants identified with high myopia, unusual head posture, or nystagmus and a family history of CSNB, ophthalmic examination and molecular genetic testing may confirm the diagnosis of CSNB, obviating the need for neuroimaging or clinical electrophysiologic testing under sedation or general anesthesia.</p><p>See <a href="#csnb.Related_Genetic_Counseling_Issues">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="csnb.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><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 information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="csnb.Genetic_Counseling"><h2 id="_csnb_Genetic_Counseling_">Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="csnb.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>By definition, X-linked congenital stationary night blindness (CSNB) is inherited in an X-linked manner.</p></div><div id="csnb.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
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<b>Parents of a proband</b>
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</p><ul><li class="half_rhythm"><div>The father of an affected male will not have X-linked CSNB nor will he be hemizygous for the <i>CACNA1F</i> or <i>NYX</i> pathogenic variant; therefore, he does not require further evaluation/testing.</div></li><li class="half_rhythm"><div>In a family with more than one affected male, the mother of an affected male is an obligate heterozygote (carrier). Note: If a woman has more than one affected child and no other affected relatives and if the <i>CACNA1F</i> or <i>NYX</i> pathogenic variant cannot be detected in her leukocyte DNA, she most likely has germline mosaicism.</div></li><li class="half_rhythm"><div>If a male is the only affected family member (i.e., a simplex case), the mother may be a heterozygote (carrier) or the affected male may have a <i>de novo</i>
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<i>CACNA1F</i> or <i>NYX</i> pathogenic variant, in which case the mother is not a carrier.</div></li><li class="half_rhythm"><div>If the proband is female and has biallelic pathogenic variants (rare), both the mother and the father may have X-linked CSNB-causing pathogenic variants (i.e., the mother may be a carrier and the father may be affected) [<a class="bibr" href="#csnb.REF.bechhansen.1998.264" rid="csnb.REF.bechhansen.1998.264">Bech-Hansen et al 1998</a>].</div></li></ul><p><b>Sibs of a male proband.</b> The risk to sibs depends on the genetic status of the mother:</p><ul><li class="half_rhythm"><div>If the mother of the proband has an <i>CACNA1F</i> or <i>NYX</i> pathogenic variant, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the variant will be heterozygous and will usually not be affected.</div></li><li class="half_rhythm"><div>If the proband represents a simplex case (i.e., a single occurrence in a family) and if the <i>CACNA1F</i> or <i>NYX</i> pathogenic variant cannot be detected in the leukocyte DNA of the mother, the risk to sibs is slightly greater than that of the general population because of the possibility of maternal germline mosaicism.</div></li></ul><p><b>Offspring of a male proband.</b> Affected males transmit the X-linked CSNB-causing pathogenic variant to:</p><ul><li class="half_rhythm"><div>All of their daughters, who will be heterozygous and will usually not be affected;</div></li><li class="half_rhythm"><div>None of their sons.</div></li></ul><p><b>Other family members.</b> The proband's maternal aunts may be at risk of being heterozygotes (carriers) for the pathogenic variant, and the aunts' offspring, depending on their sex, may be at risk of being carriers or of being affected.</p></div><div id="csnb.Carrier_Heterozygote_Detection"><h3>Carrier (Heterozygote) Detection</h3><p>Molecular genetic testing of at-risk female relatives to determine their genetic status is most informative if the pathogenic variant has been identified in the proband.</p><p>Note: (1) Females who are heterozygous (carriers) for this X-linked disorder will usually not be affected. (2) Identification of female heterozygotes requires either (a) prior identification of the <i>CACNA1F</i> or <i>NYX</i> pathogenic variant in the family or, (b) if an affected male is not available for testing, molecular genetic testing first by sequence analysis, and if no pathogenic variant is identified, by gene-targeted deletion/duplication analysis.</p></div><div id="csnb.Related_Genetic_Counseling_Issues"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#csnb.Evaluation_of_Relatives_at_Risk">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p>
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<b>Family planning</b>
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</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at increased risk of being carriers.</div></li></ul><p><b>DNA banking.</b> Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown).</p></div><div id="csnb.Prenatal_Testing_and_Preimplantatio"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>CACNA1F</i> or <i>NYX</i> pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for X-linked CSNB are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. 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="csnb.Resources"><h2 id="_csnb_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
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<ul><li class="half_rhythm"><div>
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<b>Fighting Blindness Canada</b>
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</div><div>890 Yonge Street</div><div>12th Floor</div><div>Toronto Ontario M4W 3P4</div><div>Canada</div><div><b>Phone:</b> 800-461-3331 (toll-free); 416-360-4200</div><div><b>Fax:</b> 416-360-0060</div><div><b>Email:</b> info@fightingblindness.ca</div><div>
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<a href="https://www.fightingblindness.ca/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.fightingblindness.ca</a>
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</div></li><li class="half_rhythm"><div>
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<b>Foundation Fighting Blindness</b>
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</div><div><b>Phone:</b> 800-683-5555</div><div>
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<a href="https://www.fightingblindness.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">fightingblindness.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>National Eye Institute</b>
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</div><div><b>Phone:</b> 301-496-5248</div><div><b>Email:</b> 2020@nei.nih.gov</div><div>
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<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>
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</div></li></ul>
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</div><div id="csnb.Molecular_Genetics"><h2 id="_csnb_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 class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcsnbmolgenTA"><a href="/books/NBK1245/table/csnb.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobcsnbmolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="csnb.molgen.TA"><a href="/books/NBK1245/table/csnb.molgen.TA/?report=objectonly" target="object" rid-ob="figobcsnbmolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">X-Linked Congenital Stationary Night Blindness: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcsnbmolgenTB"><a href="/books/NBK1245/table/csnb.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobcsnbmolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="csnb.molgen.TB"><a href="/books/NBK1245/table/csnb.molgen.TB/?report=objectonly" target="object" rid-ob="figobcsnbmolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for X-Linked Congenital Stationary Night Blindness (View All in OMIM) </p></div></div><div id="csnb.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p>Genes associated with X-linked congenital stationary night blindness (X-linked CSNB) encode proteins that are specifically expressed in the retina: nyctalopin and voltage-dependent L-type calcium channel subunit alpha-1F (Ca<sub>v</sub>1.4/α<sub>1F</sub>) for complete and incomplete CSNB, respectively. Pathogenic variants identified in these genes impinge on synaptic transmission from photoreceptors (rods and cones) to inner retinal cells.</p><p>Pathogenic variants in <i>NYX</i> are predicted to cause defects in nyctalopin, including alterations in its conformation, loss of the GPI anchor, and deletions of a portion or all of the protein [<a class="bibr" href="#csnb.REF.zeitz.2007.467" rid="csnb.REF.zeitz.2007.467">Zeitz 2007</a>].</p><p>Expression studies have shown that some (not all) <i>CACNA1F</i> pathogenic missense variants alter the channel activation properties of the Ca<sub>v</sub>1.4 calcium channel [<a class="bibr" href="#csnb.REF.mcrory.2004.1707" rid="csnb.REF.mcrory.2004.1707">McRory et al 2004</a>, <a class="bibr" href="#csnb.REF.hemarawahanui.2005.7553" rid="csnb.REF.hemarawahanui.2005.7553">Hemara-Wahanui et al 2005</a>, <a class="bibr" href="#csnb.REF.hoda.2005.252" rid="csnb.REF.hoda.2005.252">Hoda et al 2005</a>]; other missense variants may affect the assembly or expression of the presynaptic ribbon complex [<a class="bibr" href="#csnb.REF.hoda.2006.1648" rid="csnb.REF.hoda.2006.1648">Hoda et al 2006</a>]. Pathogenic nonsense and frameshift variants are predicted to cause loss of channel function or/and photoreceptor synapses.</p><p><b>Mechanism of disease causation.</b> Loss of function</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figcsnbTxlinkedcongenitalstationarynig"><a href="/books/NBK1245/table/csnb.T.xlinked_congenital_stationary_nig/?report=objectonly" target="object" title="Table 5. " class="img_link icnblk_img" rid-ob="figobcsnbTxlinkedcongenitalstationarynig"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="csnb.T.xlinked_congenital_stationary_nig"><a href="/books/NBK1245/table/csnb.T.xlinked_congenital_stationary_nig/?report=objectonly" target="object" rid-ob="figobcsnbTxlinkedcongenitalstationarynig">Table 5. </a></h4><p class="float-caption no_bottom_margin">X-Linked Congenital Stationary Night Blindness: Notable Pathogenic Variants by Gene </p></div></div></div></div><div id="csnb.References"><h2 id="_csnb_References_">References</h2><div id="csnb.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.allen.2003.1413">Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. <span><span class="ref-journal">Br J Ophthalmol. </span>2003;<span class="ref-vol">87</span>:1413–20.</span> [<a href="/pmc/articles/PMC1771890/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1771890</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/14609846" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14609846</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.bechhansen.1998.264">Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. <span><span class="ref-journal">Nat Genet. </span>1998;<span class="ref-vol">19</span>:264–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9662400" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9662400</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.bechhansen.2000.319">Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. <span><span class="ref-journal">Nat Genet. </span>2000;<span class="ref-vol">26</span>:319–23.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11062471" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11062471</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.bijveld.2013.2072">Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness. <span><span class="ref-journal">Ophthalmology. </span>2013;<span class="ref-vol">120</span>:2072–81.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23714322" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23714322</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.boycott.2000.204">Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. <span><span class="ref-journal">Can J Ophthalmol. </span>2000;<span class="ref-vol">35</span>:204–13.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10900517" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10900517</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.boycott.1998.865">Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. <span><span class="ref-journal">Am J Hum Genet. </span>1998;<span class="ref-vol">62</span>:865–75.</span> [<a href="/pmc/articles/PMC1377021/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1377021</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/9529339" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9529339</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.carss.2017.75">Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT, Webster AR, Raymond FL, et al. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. <span><span class="ref-journal">Am J Hum Genet. </span>2017;<span class="ref-vol">100</span>:75–90.</span> [<a href="/pmc/articles/PMC5223092/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5223092</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28041643" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28041643</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.charles.1993.222">Charles SJ, Green JS, Grant JW, Yates JRW, Moore AT. Clinical features of affected males with X linked ocular albinism. <span><span class="ref-journal">Br J Ophthalmol. </span>1993;<span class="ref-vol">77</span>:222–7.</span> [<a href="/pmc/articles/PMC504486/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC504486</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/8494858" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8494858</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.dryja.2000.547">Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. <span><span class="ref-journal">Am J Ophthalmol. </span>2000;<span class="ref-vol">130</span>:547–63.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11078833" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11078833</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.hauke.2013.e76414">Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB. A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. <span><span class="ref-journal">PLoS One. </span>2013;<span class="ref-vol">8</span>:e76414. </span> [<a href="/pmc/articles/PMC3790679/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3790679</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24124559" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24124559</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.hemarawahanui.2005.7553">Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA. 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A new classification. <span><span class="ref-journal">Arch Ophthalmol. </span>1986;<span class="ref-vol">104</span>:1013–20.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/3488053" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 3488053</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.nakamura.2003.1028">Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y. Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. <span><span class="ref-journal">Arch Ophthalmol. </span>2003;<span class="ref-vol">121</span>:1028–33.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12860808" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12860808</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.pusch.2000.324">Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. <span><span class="ref-journal">Nat Genet. </span>2000;<span class="ref-vol">26</span>:324–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11062472" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11062472</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.rigaudi_re.2003.203">Rigaudière F, Roux C, Lachapelle P, Rosolen SG, Bitoun P, Gay-Duval A, Le Gargasson JF. ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report. <span><span class="ref-journal">Doc Ophthalmol. </span>2003;<span class="ref-vol">107</span>:203–12.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/14661912" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14661912</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.riggs.1954.70">Riggs LA. Electroretinography in cases of night blindness. <span><span class="ref-journal">Am J Ophthalmol. </span>1954;<span class="ref-vol">38</span>:70–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/13180620" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 13180620</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.schubert.1952.396">Schubert G, Bornschein H. 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Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture. <span><span class="ref-journal">Strabismus. </span>2009;<span class="ref-vol">17</span>:158–64.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20001510" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20001510</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.strom.1998.260">Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. <span><span class="ref-journal">Nat Genet. </span>1998;<span class="ref-vol">19</span>:260–3.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9662399" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9662399</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.zeitz.2007.467">Zeitz C. Molecular genetics and protein function involved in nocturnal vision. <span><span class="ref-journal">Exp Rev Ophthalmol. </span>2007;<span class="ref-vol">2</span>:467–85.</span></div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.zeitz.2015.58">Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. <span><span class="ref-journal">Prog Retin Eye Res. </span>2015;<span class="ref-vol">45</span>:58–110.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25307992" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25307992</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="csnb.REF.zhang.2007.330">Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF. Mutations in NYX of individuals with high myopia, but without night blindness. <span><span class="ref-journal">Mol Vis. </span>2007;<span class="ref-vol">13</span>:330–6.</span> [<a href="/pmc/articles/PMC2642916/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2642916</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/17392683" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17392683</span></a>]</div></p></li></ul></div></div><div id="csnb.Chapter_Notes"><h2 id="_csnb_Chapter_Notes_">Chapter Notes</h2><div id="csnb.Acknowledgments"><h3>Acknowledgments</h3><p>The authors would like to thank Linda MacLaren and Karen McElligott for years of service to the Mennonite community affected with CSNB2A.</p></div><div id="csnb.Author_History"><h3>Author History</h3><p>N Torben Bech-Hansen, PhD; University of Calgary (2007-2012)<br />Kym M Boycott, PhD, MD; University of Ottawa, Canada (2007-2019)<br />Stephanie Hoang, MSc (2019-present)<br />Ian M MacDonald, MD, CM (2007-present)<br />Yves Sauvé, PhD; University of Alberta (2007-2019)<br />Sari Tuupanen, PhD (2019-present)</p></div><div id="csnb.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>3 July 2019 (sw) Comprehensive update posted live</div></li><li class="half_rhythm"><div>26 April 2012 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>16 January 2008 (me) Review posted live</div></li><li class="half_rhythm"><div>9 August 2007 (im) Original submission</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK1245_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Ian M MacDonald</span>, MD, CM<div class="affiliation small">Departments of Ophthalmology and 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@lanodcam" class="oemail">ac.atreblau@lanodcam</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Stephanie Hoang</span>, MSc<div class="affiliation small">Alberta Health Services
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Edmonton, Alberta, Canada<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ac.sbalcilbupatrebla@gnaoh.einahpets" class="oemail">ac.sbalcilbupatrebla@gnaoh.einahpets</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Sari Tuupanen</span>, PhD<div class="affiliation small">Blueprint Genetics
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Helsinki, Finland<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="moc.scitenegtnirpeulb@nenapuut.iras" class="oemail">moc.scitenegtnirpeulb@nenapuut.iras</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">January 16, 2008</span>; Last Update: <span itemprop="dateModified">July 3, 2019</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>MacDonald IM, Hoang S, Tuupanen S. X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [Updated 2019 Jul 3]. 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></p></div><div class="small-screen-prev"><a href="/books/n/gene/retinoschisis/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/xdp/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobcsnbTelectroretinogramfindingsincom"><div id="csnb.T.electroretinogram_findings_in_com" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Electroretinogram Findings in Complete and Incomplete X-Linked Congenital Stationary Night Blindness</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1245/table/csnb.T.electroretinogram_findings_in_com/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csnb.T.electroretinogram_findings_in_com_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ERG Finding</th><th id="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Complete (<i>NYX</i> X-linked CSNB)</th><th id="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Incomplete (<i>CACNA1F</i> X-linked CSNB)</th></tr></thead><tbody><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Scotopic rod b-wave</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severely reduced or absent</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reduced</td></tr><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mixed scotopic a-wave</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Normal</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Slightly reduced</td></tr><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mixed scotopic b-wave</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reduced</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reduced</td></tr><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Scotopic OP</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absent</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Slightly reduced</td></tr><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Photopic a-wave</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Normal, slightly reduced, sawtooth (square) shaped</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reduced</td></tr><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Photopic b-wave</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Slightly reduced</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reduced</td></tr><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Photopic OP</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Lost, except for OP4</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">All OPs are lost.</td></tr><tr><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">30-Hz flicker</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Normal / slightly reduced</td><td headers="hd_h_csnb.T.electroretinogram_findings_in_com_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reduced w/double peak</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">OP = oscillatory potential</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobcsnbTmoleculargenetictestingusedin"><div id="csnb.T.molecular_genetic_testing_used_in" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in X-Linked Congenital Stationary Night Blindness</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1245/table/csnb.T.molecular_genetic_testing_used_in/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csnb.T.molecular_genetic_testing_used_in_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene <sup>1, 2</sup></th><th id="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_2" style="text-align:left;vertical-align:middle;">Proportion of X-Linked CSNB Attributed to Pathogenic Variants in Gene</th><th id="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_3" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Proportion of Pathogenic Variants <sup>3</sup> Detectable by Method</th></tr><tr><th headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_3" id="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Sequence<br />analysis <sup>4</sup></th><th headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_3" id="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>5</sup></th></tr></thead><tbody><tr><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CACNA1F</i>
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</td><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">55% <sup>6, 7</sup></td><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_3 hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>98% <sup>6, 7</sup></td><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_3 hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5 reported <sup>8</sup></td></tr><tr><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>NYX</i>
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</td><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">45% <sup>6, 9</sup></td><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_3 hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>99% <sup>6, 9, 10</sup></td><td headers="hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_1_3 hd_h_csnb.T.molecular_genetic_testing_used_in_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4 reported <sup>10</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="csnb.TF.2.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="csnb.TF.2.2"><p class="no_margin">See <a href="/books/NBK1245/?report=reader#csnb.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="csnb.TF.2.3"><p class="no_margin">See <a href="#csnb.Molecular_Genetics">Molecular Genetics</a> for information on allelic variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="csnb.TF.2.4"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="csnb.TF.2.5"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="csnb.TF.2.6"><p class="no_margin">
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<a class="bibr" href="#csnb.REF.zeitz.2007.467" rid="csnb.REF.zeitz.2007.467">Zeitz [2007]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="csnb.TF.2.7"><p class="no_margin"><a class="bibr" href="#csnb.REF.bijveld.2013.2072" rid="csnb.REF.bijveld.2013.2072">Bijveld et al [2013]</a>, <a class="bibr" href="#csnb.REF.zeitz.2015.58" rid="csnb.REF.zeitz.2015.58">Zeitz et al [2015]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>8. </dt><dd><div id="csnb.TF.2.8"><p class="no_margin"><a class="bibr" href="#csnb.REF.bijveld.2013.2072" rid="csnb.REF.bijveld.2013.2072">Bijveld et al [2013]</a>, <a class="bibr" href="#csnb.REF.hauke.2013.e76414" rid="csnb.REF.hauke.2013.e76414">Hauke et al [2013]</a>, <a class="bibr" href="#csnb.REF.zeitz.2015.58" rid="csnb.REF.zeitz.2015.58">Zeitz et al [2015]</a>, <a class="bibr" href="#csnb.REF.carss.2017.75" rid="csnb.REF.carss.2017.75">Carss et al [2017]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>9. </dt><dd><div id="csnb.TF.2.9"><p class="no_margin"><a class="bibr" href="#csnb.REF.bechhansen.2000.319" rid="csnb.REF.bechhansen.2000.319">Bech-Hansen et al [2000]</a>, <a class="bibr" href="#csnb.REF.pusch.2000.324" rid="csnb.REF.pusch.2000.324">Pusch et al [2000]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>10. </dt><dd><div id="csnb.TF.2.10"><p class="no_margin"><a class="bibr" href="#csnb.REF.pusch.2000.324" rid="csnb.REF.pusch.2000.324">Pusch et al [2000]</a>, <a class="bibr" href="#csnb.REF.bijveld.2013.2072" rid="csnb.REF.bijveld.2013.2072">Bijveld et al [2013]</a></p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobcsnbTothercacna1frelateddisordersto"><div id="csnb.T.other_cacna1frelated_disorders_to" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Other <i>CACNA1F</i>-Related Disorders to Consider in the Differential Diagnosis of X-Linked Congenital Stationary Night Blindness</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1245/table/csnb.T.other_cacna1frelated_disorders_to/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csnb.T.other_cacna1frelated_disorders_to_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_1" style="text-align:left;vertical-align:middle;"><i>CACNA1F</i>-Related (Allelic) Disorder</th><th id="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Clinical Features of Allelic Disorder</th></tr><tr><th headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2" id="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/X-linked CSNB</th><th headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2" id="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from X-linked CSNB</th></tr></thead><tbody><tr><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Åland Island eye disease (AIED; Forsius-Eriksson syndrome) <sup>1</sup><br /><p>(OMIM <a href="https://omim.org/entry/300600" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300600</a>)</p></td><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2 hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<ul><li class="half_rhythm"><div>Significant phenotypic overlap between AIED & CSNB2A</div></li><li class="half_rhythm"><div>Retinal disorder</div></li><li class="half_rhythm"><div>↓ visual acuity</div></li><li class="half_rhythm"><div>Nystagmus</div></li><li class="half_rhythm"><div>Astigmatism</div></li><li class="half_rhythm"><div>Defective dark adaptation</div></li><li class="half_rhythm"><div>ERG reveals abnormalities in both photopic & scotopic functions.</div></li></ul>
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</td><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2 hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<ul><li class="half_rhythm"><div>Fundus hypopigmentation</div></li><li class="half_rhythm"><div>Myopia is progressive.</div></li><li class="half_rhythm"><div>Protan color vision defect</div></li></ul>
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</td></tr><tr><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">X-linked cone-rod dystrophy (CORDX3) <sup>2</sup><br /><p>(OMIM <a href="https://omim.org/entry/300476" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300476</a>)</p></td><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2 hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<ul><li class="half_rhythm"><div>Several features of CSNB2A</div></li><li class="half_rhythm"><div>Modest progressive dysfunction of photoreceptors</div></li></ul>
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</td><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2 hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variable features incl:
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<ul><li class="half_rhythm"><div>Constricted visual fields</div></li><li class="half_rhythm"><div>Central scotomas</div></li><li class="half_rhythm"><div>General ↓ of sensitivity in central field</div></li><li class="half_rhythm"><div>Red/green or red color defects</div></li></ul></td></tr><tr><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">X-linked retinal disorder <sup>3</sup></td><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2 hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Clinical & ERG similarities to CSNB2A</td><td headers="hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_1_2 hd_h_csnb.T.other_cacna1frelated_disorders_to_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<ul><li class="half_rhythm"><div>Intellectual disability</div></li><li class="half_rhythm"><div>Manifestations in heterozygous female (attributed to unique gain-of-function missense variant in <i>CACNA1F</i>) <sup>4</sup></div></li></ul>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">CSNB = congenital stationary night blindness; CSNB2A = CSNB caused by a pathogenic variant in <i>CACNA1F</i>; ERG = electroretinogram</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="csnb.TF.3.1"><p class="no_margin">A novel pathogenic variant in <i>CACNA1F</i> has been identified in affected individuals from the original family with AIED [<a class="bibr" href="#csnb.REF.jalkanen.2007.2498" rid="csnb.REF.jalkanen.2007.2498">Jalkanen et al 2007</a>].</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="csnb.TF.3.2"><p class="no_margin">A pathogenic variant in <i>CACNA1F</i> has been identified in one Finnish family [<a class="bibr" href="#csnb.REF.jalkanen.2006.699" rid="csnb.REF.jalkanen.2006.699">Jalkanen et al 2006</a>].</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="csnb.TF.3.3"><p class="no_margin">Described in a large Maori family [<a class="bibr" href="#csnb.REF.hope.2005.129" rid="csnb.REF.hope.2005.129">Hope et al 2005</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="csnb.TF.3.4"><p class="no_margin">
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<a class="bibr" href="#csnb.REF.hemarawahanui.2005.7553" rid="csnb.REF.hemarawahanui.2005.7553">Hemara-Wahanui et al [2005]</a>
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</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobcsnbTdisorderstoconsiderinthediff"><div id="csnb.T.disorders_to_consider_in_the_diff" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Disorders to Consider in the Differential Diagnosis of X-Linked Congenital Stationary Night Blindness</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1245/table/csnb.T.disorders_to_consider_in_the_diff/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csnb.T.disorders_to_consider_in_the_diff_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_1" style="text-align:left;vertical-align:middle;">Fundus <sup>1</sup></th><th id="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" style="text-align:left;vertical-align:middle;">DiffDx Disorder</th><th id="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="2" scope="col" colspan="1" headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Clinical Features of DiffDx Disorder</th></tr><tr><th headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5" id="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/X-linked CSNB</th><th headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5" id="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from X-linked CSNB</th></tr></thead><tbody><tr><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Normal fundus</b>
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</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CSNB (non-X-linked)</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 2.</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR<br />AD</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Most autosomal CSNB is clinically identical, w/exception of AD CSNB, Nougaret type.</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<ul><li class="half_rhythm"><div>Family history consistent w/XL inheritance may differentiate XL forms of CSNB from AD & AR forms.</div></li><li class="half_rhythm"><div>In AD CSNB, Nougaret type (OMIM <a href="https://omim.org/entry/610444" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610444</a>) there is no significant refractive error & ERG waveform is Riggs type (not Schubert-Bornshein) <sup>3</sup> w/minimal a-wave in response to scotopic bright flash.</div></li></ul>
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</td></tr><tr><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Blue cone monochromacy (OMIM <a href="https://omim.org/entry/303700" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">303700</a>)</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>OPN1LW</i>
|
|
<br />
|
|
<i>OPN1MW</i>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Poor vision</div></li><li class="half_rhythm"><div>Nystagmus</div></li></ul>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Abnormal color vision</div></li><li class="half_rhythm"><div>Almost completely abolished photopic ERG contrasting w/normal or minimally affected scotopic ERG</div></li><li class="half_rhythm"><div>Fundus exam in young males is normal; some males develop macular atrophy in late adulthood.</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/xl-nystag/?report=reader"><i>FRMD7</i>-related infantile nystagmus</a>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>FRMD7</i>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Poor vision</div></li><li class="half_rhythm"><div>Nystagmus</div></li></ul>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Normal ERG</div></li><li class="half_rhythm"><div>Normal VEP</div></li><li class="half_rhythm"><div>Normal foveal contour</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Abnormal fundus</b>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ocular albinism type I (OMIM <a href="https://omim.org/entry/300500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">300500</a>)</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>OA1</i>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Poor vision</div></li><li class="half_rhythm"><div>Nystagmus</div></li></ul>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Iris transillumination</div></li><li class="half_rhythm"><div>Foveal hypoplasia</div></li><li class="half_rhythm"><div>Heterozygous females have fundus signs (hypopigmentation of retinal pigment epithelium). <sup>4</sup></div></li><li class="half_rhythm"><div>Absence of selective ↓ in amplitude of b-wave on ERG</div></li><li class="half_rhythm"><div>VEP responses show propensity for more crossing fibers than expected at level of chiasm.</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/retinoschisis/?report=reader">X-linked juvenile retinoschisis</a>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RS1</i>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Visual acuity ↓ to same range as in XL CSNB</div></li><li class="half_rhythm"><div>Selective ↓ in amplitude of b-wave on ERG</div></li></ul>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Fundus exam shows foveal schisis or foveal findings in virtually all affected males & ~50% have areas of peripheral retinoschisis.</td></tr><tr><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Oguchi disease <sup>5</sup> (OMIM <a href="https://omim.org/entry/258100" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">258100</a>, <a href="https://omim.org/entry/613411" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613411</a>)</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SAG</i>
|
|
<br />
|
|
<i>GRK1</i>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Non-progressive</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Fundus has abnormal color that becomes normal w/prolonged dark adaptation (Mizuo phenomenon). <sup>6</sup></td></tr><tr><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Fundus albipunctatus <sup>7</sup> (OMIM <a href="https://omim.org/entry/136880" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">136880</a>)</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RDH5</i>
|
|
<br />
|
|
<i>RLBP1</i>
|
|
</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR<br />AD</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Non-progressive</td><td headers="hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_1_5 hd_h_csnb.T.disorders_to_consider_in_the_diff_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<ul><li class="half_rhythm"><div>Fundus shows discretely scattered white retinal dots.</div></li><li class="half_rhythm"><div>ERG, when recorded under standard conditions, shows selective ↓ in b-wave that normalizes w/prolonged dark adaptation. <sup>6</sup></div></li></ul>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; ERG = electroretinogram; MOI = mode of inheritance; VEP = visual evoked potential; XL = X-linked</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="csnb.TF.4.1"><p class="no_margin">X-linked CSNB is characterized by a normal fundus.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="csnb.TF.4.2"><p class="no_margin">See <a href="https://www.omim.org/phenotypicSeries/PS310500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Night blindness, congenital stationary: OMIM Phenotypic Series</a> to view genes associated with this phenotype in OMIM.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="csnb.TF.4.3"><p class="no_margin">
|
|
<a class="bibr" href="#csnb.REF.riggs.1954.70" rid="csnb.REF.riggs.1954.70">Riggs [1954]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="csnb.TF.4.4"><p class="no_margin">
|
|
<a class="bibr" href="#csnb.REF.charles.1993.222" rid="csnb.REF.charles.1993.222">Charles et al [1993]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="csnb.TF.4.5"><p class="no_margin">Oguchi disease is a form of CSNB reported in the Japanese.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="csnb.TF.4.6"><p class="no_margin">
|
|
<a class="bibr" href="#csnb.REF.dryja.2000.547" rid="csnb.REF.dryja.2000.547">Dryja [2000]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="csnb.TF.4.7"><p class="no_margin">Fundus albipunctatus is a form of CSNB.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobcsnbmolgenTA"><div id="csnb.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>X-Linked Congenital Stationary Night Blindness: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1245/table/csnb.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csnb.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_csnb.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_csnb.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_csnb.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_csnb.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_csnb.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_csnb.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_csnb.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="/gene/778" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
|
<i>CACNA1F</i>
|
|
</a>
|
|
</td><td headers="hd_b_csnb.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=778" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Xp11<wbr style="display:inline-block"></wbr>​.23</a>
|
|
</td><td headers="hd_b_csnb.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.uniprot.org/uniprot/O60840" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Voltage-dependent L-type calcium channel subunit alpha-1F</a>
|
|
</td><td headers="hd_b_csnb.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.LOVD.nl/CACNA1F" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CACNA1F @ LOVD</a>
|
|
</td><td headers="hd_b_csnb.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=CACNA1F" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CACNA1F</a>
|
|
</td><td headers="hd_b_csnb.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=CACNA1F[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CACNA1F</a>
|
|
</td></tr><tr><td headers="hd_b_csnb.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="/gene/60506" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
|
<i>NYX</i>
|
|
</a>
|
|
</td><td headers="hd_b_csnb.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=60506" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Xp11<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_b_csnb.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.uniprot.org/uniprot/Q9GZU5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Nyctalopin</a>
|
|
</td><td headers="hd_b_csnb.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://databases.lovd.nl/shared/genes/NYX" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NYX@LOVD</a>
|
|
</td><td headers="hd_b_csnb.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=NYX" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NYX</a>
|
|
</td><td headers="hd_b_csnb.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=NYX[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NYX</a>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="csnb.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
|
|
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
|
chromosome locus 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/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobcsnbmolgenTB"><div id="csnb.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for X-Linked Congenital Stationary Night Blindness (<a href="/omim/300071,300110,300278,310500" 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/NBK1245/table/csnb.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csnb.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/300071" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">300071</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/300110" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">300110</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/300278" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">300278</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">NYCTALOPIN; NYX</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/310500" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">310500</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobcsnbTxlinkedcongenitalstationarynig"><div id="csnb.T.xlinked_congenital_stationary_nig" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>X-Linked Congenital Stationary Night Blindness: Notable Pathogenic Variants by Gene</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1245/table/csnb.T.xlinked_congenital_stationary_nig/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csnb.T.xlinked_congenital_stationary_nig_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change (Alias <sup>1</sup>)</th><th id="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change (Alias <sup>1</sup>)</th><th id="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment [Reference]</th></tr></thead><tbody><tr><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CACNA1F</i>
|
|
</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nuccore&id=53832006" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005183<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3166dupC<br />(c.3167_3168dupC)</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu1056ProfsTer11<br />(Leu991insC)</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Founder variant reported in persons of Dutch-German Mennonite descent [<a class="bibr" href="#csnb.REF.boycott.2000.204" rid="csnb.REF.boycott.2000.204">Boycott et al 2000</a>]</td></tr><tr><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>NYX</i>
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</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_022567.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_022567<wbr style="display:inline-block"></wbr>​.2</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/12007646" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_072089<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.85_108del</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg_Ala36del</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Founder variant identified in the US [<a class="bibr" href="#csnb.REF.bechhansen.2000.319" rid="csnb.REF.bechhansen.2000.319">Bech-Hansen et al 2000</a>]</td></tr><tr><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_3" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.856delG</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asp286ThrfsTer62</td><td headers="hd_h_csnb.T.xlinked_congenital_stationary_nig_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Identified in Flemish persons from Belgium [<a class="bibr" href="#csnb.REF.leroy.2009.692" rid="csnb.REF.leroy.2009.692">Leroy et al 2009</a>]</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><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></dl><dl class="bkr_refwrap"><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/?report=reader">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="csnb.TF.5.1"><p class="no_margin">Variant designation that does not conform to current naming conventions</p></div></dd></dl></dl></div></div></div></article><article data-type="fig" id="figobcsnbF1"><div id="csnb.F1" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK1245/bin/csnb-Image001.jpg" alt="Figure 1. " /></div><h3><span class="label">Figure 1. </span></h3><div class="caption"><p>Representative full-field ERGs recorded from three males:</p><p>A. Age 35 years, unaffected</p><p>B. Age 66 years, with CSNB1A (pathogenic variant in <i>NYX</i>)</p><p>C. Age 35 years, with CSNB2A (pathogenic variant in <i>CACNA1F</i>)</p><p>Arrows indicate the b-wave, which has lower amplitude than the a-wave (so-called "negative ERG").</p><p>Traces in panel C adapted with the author's permission from <a class="figpopup" href="/books/NBK1245/figure/csnb.F1/?report=objectonly" target="object" rid-figpopup="figcsnbF1" rid-ob="figobcsnbF1">Figure 1A</a> of <a class="bibr" href="#csnb.REF.bechhansen.2000.319" rid="csnb.REF.bechhansen.2000.319">Bech-Hansen et al [2000]</a>.</p></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.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></div></div>
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