Juvenile retinoschisis

Title

Other Names:

X-linked juvenile retinoschisis; XJR; X-linked retinoschisis; X-linked juvenile retinoschisis; XJR; X-linked retinoschisis; Retinoschisis X-linked; Retinoschisis juvenile X chromosome-linked See More

Categories:

Congenital and Genetic Diseases; Eye diseases

Summary Summary

Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern.^[1]^[2] Low-vision aids can be helpful. Surgery may be needed for some complications.^[1]

Last updated: 2/27/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram		0000512
Abnormality of eye movement	Abnormal eye movement Abnormal eye movements Eye movement abnormalities Eye movement issue [ more ]	0000496
Abnormality of vision	Abnormality of sight Vision issue [ more ]	0000504
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Glaucoma		0000501
Retinoschisis		0030502
30%-79% of people have these symptoms
Macular atrophy		0007401
Retinal pigment epithelial atrophy		0007722
1%-4% of people have these symptoms
Mizuo phenomenon		0030824
Retinal detachment	Detached retina	0000541
Vitreous hemorrhage		0007902
Percent of people who have these symptoms is not available through HPO
Electronegative electroretinogram		0007984
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Peripheral cystoid retinal degeneration		0007667
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
Retinal atrophy		0001105
X-linked recessive inheritance		0001419

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Last updated: 2/1/2021

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Cause Cause

Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together).^[2]

RS1 gene mutations lead to a reduced amount or complete absence of retinoschisin, which can cause tiny splits (schisis) or tears to form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In about half of individuals, these abnormalities are seen in the area of the macula, affecting visual acuity. In the other half, the sides of the retina are affected, resulting in impaired peripheral vision.^[2]

Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.^[2]

Last updated: 2/27/2016

Inheritance Inheritance

Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. 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 must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.^[2]

In X-linked recessive inheritance, a female with one mutated copy of the gene (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.^[1]

Last updated: 2/27/2016

Treatment Treatment

There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for children who have vision impairment. Surgery may be required to address the infrequent complications of vitreous hemorrhage and retinal detachment. Affected individuals should avoid high-contact sports and other activities that can cause head trauma to reduce risk of retinal detachment and vitreous hemorrhage.^[1]

Last updated: 2/27/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes retinitis pigmentosa and Goldmann-Favre syndrome (see these terms). The autosomal recessive inheritance, severe nyctalopia, pigmentary retinopathy, and reduced alpha- and beta-waves on the electroretinogram (ERG) help to differentiate Goldmann-Favre syndrome from XLRS. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Juvenile retinoschisis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Family Connect: for parents of children with visual impairments
E-mail: familyconnect@afb.net
Website: http://www.familyconnect.org/parentsitehome.asp
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: info@fightblindness.org
Website: https://www.fightingblindness.org/
Pediatric Retinal Research Foundation
P.O.Box 1926
Birmingham, MI 48012-9102
Telephone: 248-838-9102
E-mail: info@pediatricrrf.org
Website: https://www.pediatricrrf.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Juvenile retinoschisis. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile retinoschisis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Sieving PA, MacDonald IM, Chan S. X-Linked Juvenile Retinoschisis. GeneReviews. August 28, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1222/.
X-linked juvenile retinoschisis. Genetics Home Reference. March 2015; http://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis.

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