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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormal electroretinogram	Very frequent (present in 80%-99% of cases)
Abnormality of eye movement	Very frequent (present in 80%-99% of cases)
Abnormality of vision	Very frequent (present in 80%-99% of cases)
Cataract	Very frequent (present in 80%-99% of cases)
Glaucoma	Very frequent (present in 80%-99% of cases)
Retinoschisis	Very frequent (present in 80%-99% of cases)
Chorioretinal atrophy	-
Cystic retinal degeneration	-
Electronegative electroretinogram	-
Hypermetropia	-
Progressive visual loss	-
Retinal atrophy	-
Retinal detachment	-
X-linked dominant inheritance	-

Last updated: 5/8/2017

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

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

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 studying or have studied 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

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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: 800-683-5555
Telephone: 410-423-0600 (local)
TTY: 800-683-5551
E-mail: info@fightblindness.org
Website: http://www.blindness.org
Lighthouse International
111 E 59th Street
New York, NY 10022-1202
Toll-free: 800-829-0500
Telephone: 212-821-9200
TTY: 212-821-9713
Fax: 212-821-9707
E-mail: info@lighthouse.org
Website: http://www.lighthouse.org
ROPARD:The Association for Retinopathy of Prematurity and Related Diseases
P.O.Box 250425
Franklin, MI 48025
Toll-free: (800)788-2020
Telephone: (248) 549-2671
Fax: (248) 788-4589
E-mail: ropard@yahoo.com
Website: http://www.ropard.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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 Genetics Home Reference.

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

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. Submit a new question

Does juvenile retinoschisis cause blindness inevitably? At approximately what age do they go blind? See answer
My sister's son has been diagnosed with juvenile retinoschisis, and she has been told she is a carrier. What is the risk that I am a carrier and that my son has this condition? See answer
My best friend has juvenile retinoschisis. He is almost 16 and is already suffering from loss of vision. How does this condition affect a person's vision? What is the status of treatment and where do medical studies stand? See answer

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.

Do you know of a review article? Send us your suggestions.