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Disease Profile

Juvenile retinoschisis

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

X-linked juvenile retinoschisis; XJR; X-linked retinoschisis;


Congenital and Genetic Diseases; Eye diseases


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]


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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormal electroretinogram
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue

[ more ]

Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

Clouding of the lens of the eye
Cloudy lens

[ more ]

30%-79% of people have these symptoms
Macular atrophy
Retinal pigment epithelial atrophy
1%-4% of people have these symptoms
Mizuo phenomenon
Retinal detachment
Detached retina
Vitreous hemorrhage
Percent of people who have these symptoms is not available through HPO
Electronegative electroretinogram

[ more ]

Peripheral cystoid retinal degeneration
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

Retinal atrophy
X-linked recessive inheritance


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]


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]


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

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    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

      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.


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

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