
X-linked retinoschisis (XLRS) is an inherited retinal diseasing causing vision loss due to splitting of the layers of the retina.
About the Disease
X-linked retinoschisis (XLRS) is an inherited disease that causes loss of central and peripheral vision due to degeneration of the retina. The retina is a thin piece of tissue lining the back of the eye. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision. About 35,000 people in the United States and Europe have the condition.
XLRS leads to vision loss due to the splitting of retinal layers, which leads to degeneration of photoreceptors. It is caused by mutations in the RS1 gene. The RS1 protein act likes an adhesive to hold the retinal layers together.
Symptoms
XLRS occurs most frequently in males. Although the condition begins at birth, symptoms do not typically become apparent until after the age of 10. About half of all patients diagnosed with retinoschisis notice first a decline in vision. Other early symptoms of the disease include the inability of both eyes to focus on an object (strabismus) and roving, involuntary eye movements (nystagmus).
Vision loss associated with juvenile retinoschisis is caused by the splitting of the retina into two layers. This retinal splitting most notably affects the macula, the central portion of the retina responsible for perceiving detail and colors. On examination, the fovea (the center of the macula) has spoke-like streaks. The spaces created by the separated layers are often filled with blisters and ruptured blood vessels that can leak blood into the vitreous body (the transparent, colorless mass of jelly-like material filling the center of the eye). The presence of blood in the vitreous body causes further visual impairment. The vitreous body degenerates and may eventually separate from the retina. The entire retina may also separate from underlying tissue layers causing retinal detachments.
The extent and rate of vision loss vary greatly among patients with XLRS. Central vision is almost always affected. Peripheral (side) vision loss occurs in about half of all cases. Some patients retain useful vision well into adulthood, while others experience a rapid decline during childhood.
XLRS is genetically passed through families by the X-linked pattern of inheritance. In this type of inheritance, the gene for the disease is located on the X chromosome. Females have two X chromosomes and can carry the disease gene on one of their X chromosomes. Because they have a healthy copy of the gene on their other X chromosome, carrier females are often not affected by X-linked diseases such as XLRS. However, in recent years, more females have been identified with having vision loss from X-linked conditions.
Males have only one X chromosome (paired with one Y chromosome) and are therefore genetically susceptible to X-linked diseases. Males affected with an X-linked disease always pass the gene on the X chromosome to their daughters, who then become carriers. Affected males never pass an X-linked disease gene to their sons, because fathers pass the Y chromosome to their sons.
Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who become carriers, and a 50 percent chance of passing the gene to their sons, who are then affected by the disease.
Genetic Testing
Genetic counselors are excellent resources for discussing inheritability, family planning, genetic testing, and other related issues.
Treatment Research
The National Eye Institute and Applied Genetic Technologies Corporation have launched gene therapy clinical trials for XLRS. Gene therapies work by delivering copies of healthy genes to the retina to replace the defective copies that are causing vision loss.
The Foundation is funding other research projects to identify compounds that can preserve vision. Future stem-cell treatments might also benefit people with retinoschisis.
A recent study showed that a drug called dorzolamide may improve retinal health and restore some vision in people with retinoschisis.
Individuals with XLRS may also benefit from the use of low-vision aids, including electronic, computer-based, and optical aids.
Orientation and mobility training, adaptive training skills, job placement, and income assistance are available through community resources.
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Latest News
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Mar 31, 2020
COVID-19 Resources
The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
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Feb 6, 2020
Foundation Insights Forum – January 31, 2020
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcripts of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on January 31, 2020.
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Feb 6, 2020
ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker® Program for People Living with Inherited Retinal Diseases
My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.
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Nov 8, 2019
Foundation Insights Forum – October 30, 2019
The Foundation Fighting Blindness is pleased to provide an audio recording and full transcript of the Insights Forum, our quarterly conference call providing updates to the inherited retinal disease community. The call took place on October 30, 2019.
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Oct 2, 2019
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States
The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States. Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter.
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Aug 16, 2019
Foundation Fighting Blindness Investing Nearly $6.5 Million in New Grants
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May 9, 2019
Foundation Fighting Blindness Endorses 'Eye Bonds' Legislation
Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research
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Jul 19, 2018
Foundation Fighting Blindness Urges Congress to Pass ‘Eye-Bonds’ Legislation
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Jun 8, 2018
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
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Latest Research
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Feb 7, 2020
Genetic Testing for Inherited Retinal Diseases through the Foundation’s Open Access Program
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Jun 17, 2019
The Retina is a Proving Ground for a Broad Range of Neurological Therapies
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May 20, 2019
Dr. Don Zack Honored for Research Contributions by ARVO and the Foundation Fighting Blindness
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May 9, 2019
Eye Bonds Re-Introduced to New Congress: Potentially $1 Billion in Government-Backed Funding for Eye Research
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Jan 29, 2019
The Foundation Receives a $100,000 Research Grant from Sofia Sees Hope
Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
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Jan 17, 2019
Pixium's PRIMA Bionic Vision System Restores Central Vision in Dry AMD Clinical Trial
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Dec 21, 2018
AGTC Announces Topline Interim Six-Month Data of XLRS Gene Therapy from Ongoing Phase I/II Clinical Trial
Applied Genetic Technologies Corporation (AGTC), a leading developer of gene therapies, has reported the six-month follow-up data in all patients treated with its gene therapy for X-linked retinoschisis (XLRS) in its Phase I/II clinical trial.
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Nov 2, 2018
Foundation Invests $2.5 Million in Search for Elusive Retinal Disease Genes and Mutations
Since 1989 genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.
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Sep 11, 2018
FFB Congratulates RPE65 Gene Therapy Researchers for Champalimaud Award
On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.
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Aug 15, 2018
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Aug 6, 2018
FFB Funding More than $2 Million in New Research
Seventy scientists submitted requests for funding.
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Jul 20, 2018
Call to Action: Ask Congress to Support $1 Billion in Eye Research
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Jul 5, 2018
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Jun 22, 2018
VISIONS2018 Live Stream
Watch recorded sessions from VISIONS2018.
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May 3, 2018
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
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May 2, 2018
ARVO 2018: Dr. Steve Rose Reports on CRISPR/Cas9 for Inherited Retinal Diseases
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Apr 25, 2018
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Jan 17, 2018
Clinical Trial to Launch for System Combining Optogenetics and Eyewear
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Jan 9, 2018
Top Retinal Research Advances for 2017
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Dec 20, 2017
History Is Made: FDA Approves Spark's Vision-Restoring Gene Therapy
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Nov 21, 2017
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Oct 13, 2017
FDA Committee Unanimously Recommends Approval for Spark's RPE65 Gene Therapy - Final Decision Due in January 2018
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Sep 27, 2017
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Jul 26, 2017
Scientists Receive $25 Million to Develop a Vision-Restoring System that Connects to the Brain
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Jul 25, 2017
Foundation Fighting Blindness and 4D Molecular Therapeutics Partner to Boost Retinal Gene Therapy Development
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Jul 24, 2017
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Jul 19, 2017
Twelve People Receive XLRS Gene Therapy in AGTC's Clinical Trial
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May 23, 2017
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May 8, 2017
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Mar 22, 2017
Dr. Eliot Berson, Pioneer in Vitamin A Therapy for Retinitis Pigmentosa, Passes Away
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Mar 16, 2017
Unregulated Stem-Cell Therapy Causes Severe Vision Loss for Three Florida Women
“…participation in a study for an emerging therapy that is not regulated by the FDA or another well-recognized regulatory agency like the European Medicines Agency in Europe, is fraught with dangers and can lead to unexpected serious consequences.”
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Feb 17, 2017
AGTC Leverages Funding from the Foundation to Move Promising Treatments into Clinical Trials
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Dec 21, 2016
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Oct 18, 2016
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Oct 11, 2016
Nobel-Prize-Winning Stem-Cell Researcher Delivers Keynote at FFB-Funded Conference in Kyoto
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Oct 6, 2016
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Aug 18, 2016
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Jul 1, 2016
VISIONS 2016 — Dr. Shomi Bhattacharya Wins FFB Award for Gaining an Understanding of Variations in Vision Loss
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Oct 8, 2015
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Jun 27, 2015
VISIONS 2015 — Dr. José Sahel Receives Foundation's Most Prestigious Research Honor
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Jun 26, 2015
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May 19, 2015
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May 12, 2015
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One of the hot topics at ARVO this year is a rapidly advancing gene-therapy approach called clustered regularly interspaced short palindromic repeats, or CRISPR.
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Aug 1, 2014
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Jun 21, 2014
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Jun 21, 2014
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May 8, 2014
ARVO 2014: European Collaboration Developing Cross-Cutting, Vision-Saving Therapies
Simply put, they’re creating therapies that can save vision in as many people as possible, independent of the genetic cause of disease.
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Apr 8, 2014
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May 7, 2013
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Mar 8, 2013
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Feb 18, 2013
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Jun 19, 2012
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Mar 13, 2023
Blind Paralympian Reaching New Heights
Isaac Jean-Paul was diagnosed with X-linked juvenile retinoschisis (XLRS) at the age of two. Isaac was always set on being a professional athlete, and now he’s a Paralympian, winning bronze in the long jump in the 2020 Games and breaking the high jump world record three times.