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<span>X-linked juvenile retinoschisis</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis/</span>
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<h1>X-linked juvenile retinoschisis</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects <a class="image-modal" data-alt="Layers of cells that make up the retina, including the choroid, pigment epithelium, and rods and cones." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000Z4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000Z4" data-sourceurl="" data-title="Structure of the retina" href="https://medlineplus.gov/images/PX0000Z4_PRESENTATION.jpeg" id="PX0000Z4_1" title="Show image">the retina<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called <a class="image-modal" data-alt="An illustration of the parts of the eyeball, including the macula at the back of the eye. Insets compare a normal macula to wet macular degeneration and dry macular degeneration." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000XS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000XS" data-sourceurl="" data-title="Macular degeneration" href="https://medlineplus.gov/images/PX0000XS_PRESENTATION.jpeg" id="PX0000XS_2" title="Show image">macular degeneration<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis.</p><p>X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and <a data-pid="16909" href="https://medlineplus.gov/genetics/condition/farsightedness/">farsightedness</a> (<a class="image-modal" data-alt="Diagram of light entering an eye with hyperopia." data-caption="" data-credit="National Eye Institute/National Institutes of Health" data-filepath="images/PX00000W_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00000W" data-sourceurl="https://www.flickr.com/photos/nationaleyeinstitute/" data-title="Hyperopia (farsightedness)" href="https://medlineplus.gov/images/PX00000W_PRESENTATION.jpeg" id="PX00000W_4" title="Show image">hyperopia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (<a class="image-modal" data-alt="Cross-sectional diagram of an eye, showing detachment of a portion of the retina at the back of the eye" data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX00013W_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00013W" data-sourceurl="" data-title="Retinal detachment" href="https://medlineplus.gov/images/PX00013W_PRESENTATION.jpeg" id="PX00013W_5" title="Show image">retinal detachment<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 men worldwide.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17939" href="https://medlineplus.gov/genetics/gene/rs1/">RS1</a></i> gene cause most cases of X-linked juvenile retinoschisis. The <i>RS1</i> gene provides instructions for making a protein called retinoschisin, which is found in <a class="image-modal" data-alt="Layers of cells that make up the retina, including the choroid, pigment epithelium, and rods and cones." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000Z4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000Z4" data-sourceurl="" data-title="Structure of the retina" href="https://medlineplus.gov/images/PX0000Z4_PRESENTATION.jpeg" id="PX0000Z4_2" title="Show image">the retina<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in the organization of cells in the retina by attaching cells together (cell adhesion).</p><p><i>RS1</i> gene mutations result in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of cells in the retina. As a result, tiny splits (schisis) or tears form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In half of affected individuals, these abnormalities can occur in the area of the macula, affecting visual acuity, in the other half of cases the schisis occurs in the sides of the retina, resulting in impaired peripheral vision.</p><p>Some individuals with X-linked juvenile retinoschisis do not have a mutation in the <i>RS1</i> gene. In these individuals, the cause of the disorder is unknown.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with X-linked juvenile retinoschisis</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/rs1/">RS1</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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||
<h2>Inheritance</h2>
|
||
|
||
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Two generations of a family with an X-linked recessive disorder. In this form of inheritance, the chance of being affected or being a carrier depends on whether the mother or the father has the mutated gene on the X chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000068_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000068" data-sourceurl="" data-title="X-linked recessive inheritance" href="https://medlineplus.gov/images/PX000068_PRESENTATION.jpeg" id="PX000068_1" title="Show image">X-linked recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The gene associated with this condition is located on the X chromosome, which is one of the two <a class="image-modal" data-alt="Karyotype showing 22 autosomes and 2 sex chromsomes, either two X chromosomes or an X chromosome and a Y chromosome." data-caption="The X chromosome is one of two sex chromosomes. Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000HO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000HO" data-sourceurl="" data-title="Sex chromosomes (X and Y)" href="https://medlineplus.gov/images/PX0000HO_PRESENTATION.jpeg" id="PX0000HO_2" title="Show image">sex chromosomes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>Congenital X-linked retinoschisis</li> <li>Degenerative retinoschisis</li> <li>Juvenile retinoschisis</li> <li>X-linked retinoschisis</li> <li>XJR</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3714753/" target="TheNewWin">Genetic Testing Registry: Juvenile retinoschisis</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/4690/index" target="TheNewWin">X-linked retinoschisis</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22X-linked juvenile retinoschisis%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/312700" target="TheNewWin">RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28X-linked+juvenile+retinoschisis%5BTIAB%5D%29+OR+%28juvenile+retinoschisis%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Apushkin MA, Fishman GA, Rajagopalan AS. Fundus findings and longitudinal
|
||
study of visual acuity loss in patients with X-linked retinoschisis. Retina. 2005
|
||
Jul-Aug;25(5):612-8. doi: 10.1097/00006982-200507000-00012. <a href="https://pubmed.ncbi.nlm.nih.gov/16077359" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Kim DY, Mukai S. X-linked juvenile retinoschisis (XLRS): a review of
|
||
genotype-phenotype relationships. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):392-6.
|
||
doi: 10.3109/08820538.2013.825299. <a href="https://pubmed.ncbi.nlm.nih.gov/24138048" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical
|
||
diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012
|
||
May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 Jan 3. <a href="https://pubmed.ncbi.nlm.nih.gov/22245536" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334421/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Pimenides D, George ND, Yates JR, Bradshaw K, Roberts SA, Moore AT, Trump D.
|
||
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J
|
||
Med Genet. 2005 Jun;42(6):e35. doi: 10.1136/jmg.2004.029769. <a href="https://pubmed.ncbi.nlm.nih.gov/15937075" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1736077/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Prenner JL, Capone A Jr, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital
|
||
X-linked retinoschisis classification system. Retina. 2006 Sep;26(7 Suppl):S61-4.
|
||
doi: 10.1097/01.iae.0000244290.09499.c1. <a href="https://pubmed.ncbi.nlm.nih.gov/16946682" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, Zhang Q. Novel RS1 mutations
|
||
associated with X-linked juvenile retinoschisis. Int J Mol Med. 2012
|
||
Apr;29(4):644-8. doi: 10.3892/ijmm.2012.882. Epub 2012 Jan 10. <a href="https://pubmed.ncbi.nlm.nih.gov/22245991" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573736/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
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|
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|
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<a class="image-modal" id="14380_featured" href="https://medlineplus.gov/images/PX0003FB_PRESENTATION.jpeg"
|
||
data-filepath="images/PX0003FB_PRESENTATION.jpeg"
|
||
data-title="Image of the interior of an eye with X-linked juvenile retinoschisis"
|
||
data-caption="Image of the interior of an eye with X-linked juvenile retinoschisis showing tiny splits (schisis) or tears that form a "spoke-wheel" pattern (arrow)."
|
||
data-credit="GeneReviews, © 1993-2020 University of Washington"
|
||
data-alt="Image of the interior of an eye with X-linked juvenile retinoschisis showing tiny splits (schisis) or tears that form a "spoke-wheel" pattern (arrow)."
|
||
data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1222/figure/retinoschisis.F1/?report=objectonly">
|
||
<img class="scale-with-grid" src="https://medlineplus.gov/images/PX0003FB_PRESENTATION.jpeg" alt="" title="Image of the interior of an eye with X-linked juvenile retinoschisis">
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