X-linked juvenile retinoschisis (XLRS), also known as congenital retinoschisis, is a rare genetic condition that affects the retina, the light-sensitive tissue in the back of the eye. It primarily affects males, with a frequency of approximately 1 in 15,000 to 30,000 male births. The condition is caused by mutations in the RS1 gene, which is responsible for the production of a protein called retinoschisin. This protein plays a critical role in the maintenance and development of the retina.

Patients with XLRS typically experience visual impairment during childhood, often in the form of blurry or distorted vision. The severity of the symptoms can vary widely, ranging from mild to severe. In some cases, the condition may lead to significant loss of central vision, making it difficult to perform tasks that require sharp, detailed vision.

Diagnosis of XLRS usually involves a combination of clinical examination, family history assessment, and genetic testing. The presence of retinoschisis, along with a family history of the condition, can provide strong evidence for a diagnosis. Genetic testing can confirm the presence of mutations in the RS1 gene.

There is currently no cure for XLRS, but there are treatment options available to manage the condition and support the affected individual’s vision. These may include visual aids, such as glasses or contact lenses, and low vision rehabilitation to help maximize remaining visual function. Ongoing research and clinical trials are focused on developing new therapies to address the underlying causes of XLRS and potentially improve vision outcomes.

Patient support and advocacy groups, such as the XLRS Society and Retina International, provide valuable resources, information, and support for individuals and families affected by XLRS. Scientific articles, research studies, and additional references can be found in databases such as PubMed and OMIM. The National Institutes of Health’s clinicaltrialsgov website is also a valuable resource for finding information on ongoing clinical trials related to XLRS.

Frequency

X-linked juvenile retinoschisis is a rare condition that typically affects males. According to clinicaltrialsgov, the frequency of this condition is estimated to be around 1 in 5,000 to 1 in 25,000 males worldwide. However, the exact prevalence may vary among different populations.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Loss of vision is a characteristic feature of X-linked juvenile retinoschisis, and it usually presents in childhood. The condition is caused by mutations in the gene named RS1, which is located on the X chromosome. The inheritance of X-linked juvenile retinoschisis follows an X-linked recessive pattern, where the gene mutation is located on the X chromosome.

Research studies and scientific articles on X-linked juvenile retinoschisis provide valuable information about this condition. These resources can be found on platforms such as PubMed and OMIM. Additionally, advocacy and support organizations, such as the Juvenile Retinoschisis Foundation, play a vital role in providing resources and information to affected individuals and their families.

There is currently no cure for X-linked juvenile retinoschisis. However, there are ongoing research studies and clinical trials aimed at understanding the genetic and cellular mechanisms of the disease and developing potential treatment options. Genetic testing and regular retinal maintenance are important for individuals with X-linked juvenile retinoschisis to monitor the progression of the disease and manage visual impairment.

In summary, X-linked juvenile retinoschisis is a rare genetic condition that primarily affects males. It is associated with mutations in the RS1 gene and causes visual impairment in childhood. Additional information about the frequency of the condition, genetic testing, and support resources can be found from various scientific publications, clinical trial registries, and advocacy organizations.

Causes

Patient advocacy, scientific research, and genetic studies have provided additional information about the causes of X-linked juvenile retinoschisis (XLRS). XLRS is a rare genetic condition characterized by impaired visual function due to the formation of cystic spaces within the retina.

XLRS is typically associated with mutations in the RS1 gene, which is located on the X chromosome. These mutations lead to the production of a faulty retinoschisin protein, which is essential for the normal maintenance and function of retinal cells.

Inheritance of XLRS follows an X-linked pattern, meaning the condition primarily affects males. Females who carry a single mutated copy of the RS1 gene are typically unaffected or have only mild symptoms due to X-chromosome inactivation.

There are numerous resources available for patients and families affected by XLRS. Advocacy organizations, such as the X-linked Retinoschisis Society, provide support and information about the condition. Additionally, scientific research and clinical trials like those listed on ClinicalTrials.gov offer opportunities for further understanding and potential treatments for XLRS.

For more information about XLRS, the following resources may be helpful:

  • OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic conditions.
  • PubMed: A database of scientific articles and research studies.

Genetic testing is available for XLRS and can aid in confirming a diagnosis. It is recommended that individuals with suspected XLRS consult with a medical professional to discuss genetic testing and appropriate management options.

Overall, X-linked juvenile retinoschisis is a rare genetic condition with impaired visual function as its key feature. Further research and understanding of the genes associated with XLRS may lead to improved diagnosis and management options for affected individuals.

Learn more about the gene associated with X-linked juvenile retinoschisis

X-linked juvenile retinoschisis is a rare genetic condition that typically affects males in childhood. It is characterized by impaired vision and the development of schisis, or splits, in the retinal layers.

The gene associated with X-linked juvenile retinoschisis is called RS1. The RS1 gene provides instructions for making a protein called retinoschisin, which is essential for the maintenance and structure of the retinal cells. Mutations in the RS1 gene can disrupt the production or function of retinoschisin, leading to the development of X-linked juvenile retinoschisis.

Scientific studies and research have provided further support for the association of the RS1 gene with X-linked juvenile retinoschisis. The condition has also been cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic diseases.

See also  SLC29A3 gene

To learn more about the RS1 gene and X-linked juvenile retinoschisis, you can refer to the following resources:

  • – OMIM: The OMIM entry on X-linked juvenile retinoschisis (OMIM #312700) provides detailed information about the condition, including the genetic cause and inheritance pattern.
  • – PubMed: The scientific literature contains numerous articles on X-linked juvenile retinoschisis and the RS1 gene. PubMed is a valuable resource for accessing these research articles.
  • – ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that may be relevant to X-linked juvenile retinoschisis. It can provide information on ongoing research and potential treatment options.
  • – The Retinoschisis Center: This organization is dedicated to providing information and support for individuals and families affected by X-linked juvenile retinoschisis. Their website contains resources, advocacy information, and links to additional research.

Learning more about the gene associated with X-linked juvenile retinoschisis can help improve our understanding of the condition and contribute to the development of targeted therapies and interventions.

Inheritance

X-linked juvenile retinoschisis (XLRS) is a rare genetic condition that primarily affects males. It is caused by mutations in the RS1 gene, which is located on the X chromosome. Inheritance of XLRS follows an X-linked recessive pattern, which means that the condition is usually passed down from carrier females to their affected sons.

Carrier females have a normal and a mutated copy of the RS1 gene, and typically do not experience vision problems. However, they have a 50% chance of passing the mutated gene to each of their children, regardless of their gender.

Males who inherit the mutated gene from their carrier mother will typically develop XLRS. The severity of the condition can vary, but most affected individuals experience impaired vision from childhood. Visual acuity can range from mild to severe, and some individuals may develop complications such as retinal detachment.

The RS1 gene provides instructions for the production of a protein called retinoschisin, which plays a critical role in the maintenance and structure of the retina. Mutations in this gene disrupt the function of retinoschisin, leading to the development of retinoschisis in the retina.

XLRS is a genetic condition, and genetic testing can be used to confirm a diagnosis. Genetic counselors can provide information and support for individuals and families affected by XLRS, and can help with understanding the inheritance pattern of the condition. Additional resources such as advocacy organizations and research centers can also provide more information about XLRS and ongoing research studies.

For more information about XLRS and related genetic conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): Provides a catalog of genetic conditions and their associated genes.
  • PubMed: A database of scientific articles that can be searched for information on XLRS and related topics.
  • ClinicalTrials.gov: Provides information on clinical trials and research studies related to XLRS.
  • Genetic testing centers: Laboratories that offer genetic testing for XLRS and other rare genetic conditions.
  • References: Published articles and studies on XLRS and its genetic causes.

By learning more about the inheritance and genetic causes of XLRS, individuals and families affected by the condition can better understand its management and explore potential treatment options.

Other Names for This Condition

X-linked juvenile retinoschisis (XLRS) may also be referred to by the following names:

  • juvenile retinoschisis
  • congenital retinoschisis
  • retinal schisis

XLRS is a rare genetic condition that primarily affects males. It is characterized by impaired visual function and loss of retinal cell layers, typically manifested in childhood. The condition is caused by mutations in the RS1 gene, which is important for the maintenance of the retina. The inheritance of XLRS is X-linked, meaning that the gene responsible for the condition is located on the X chromosome.

There are additional rare causes of retinoschisis that are not X-linked, but the focus of this article is specifically on X-linked juvenile retinoschisis.

For more information about XLRS, clinical trials, and advocacy resources, you can visit the following sources:

  • ClinicalTrials.gov – a database of clinical studies on various diseases, including XLRS.
  • OMIM (Online Mendelian Inheritance in Man) – a catalog of genes and genetic diseases, including XLRS.
  • PubMed – a database of scientific articles and research studies, which can provide additional information on XLRS.

It is important to consult a healthcare professional or a genetic counselor for a comprehensive understanding of XLRS, including genetic testing and clinical management options.

Additional Information Resources

The following additional information resources can provide further support, research, and clinical information about X-linked juvenile retinoschisis:

  • X-Linked Juvenile Retinoschisis Center of Excellence: This center provides information and resources on genetic testing, clinical trials, and treatment options for patients with X-linked juvenile retinoschisis. They also offer support and advocacy for individuals and families affected by the condition.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic conditions, including X-linked juvenile retinoschisis. It offers detailed descriptions, references to scientific articles and studies, and links to other resources related to the condition.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “X-linked juvenile retinoschisis” on PubMed will provide a wealth of information on the condition, its causes, clinical presentations, and management options.
  • Rare Diseases Clinical Research Network: The Rare Diseases Clinical Research Network is a collaborative network of research centers that focus on studying and improving the diagnosis and treatment of rare diseases. They may have ongoing studies or clinical trials related to X-linked juvenile retinoschisis.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a resource provided by the National Center for Advancing Translational Sciences (NCATS) that offers information on rare genetic diseases. Their website provides an overview of X-linked juvenile retinoschisis, including symptoms, inheritance patterns, and available resources for patients and families.

By utilizing these additional information resources, individuals can learn more about X-linked juvenile retinoschisis, its associated genes, clinical manifestations, and available support for patients and families affected by this rare condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding X-linked juvenile retinoschisis. This condition is caused by mutations in the RS1 gene, which is located on the X chromosome. Genetic testing can help confirm the diagnosis of X-linked juvenile retinoschisis and identify the specific genetic mutation causing the condition.

See also  CNGA3 gene

There are several types of genetic tests that can be used to detect mutations in the RS1 gene. These tests may include sequencing the entire gene, targeted mutation analysis, or deletion/duplication analysis. Genetic testing can be performed on a blood or saliva sample from the patient.

In addition to confirming the diagnosis, genetic testing can provide valuable information about the inheritance pattern of X-linked juvenile retinoschisis. This condition follows an X-linked recessive inheritance pattern, which means that it primarily affects males. Females can be carriers of the condition and may have mild signs and symptoms.

Genetic testing can also help determine the risk of passing the condition on to future generations. If a specific genetic mutation is identified in an affected individual, other family members can be tested to see if they also carry the mutation.

For patients with X-linked juvenile retinoschisis, genetic testing can provide important information for their medical care. It can help guide treatment decisions, provide information about the prognosis of the condition, and inform genetic counseling discussions.

There are several resources available for finding more information about genetic testing for X-linked juvenile retinoschisis. The Genetic Testing Registry (GTR) maintained by the National Institutes of Health provides a catalog of genetic tests and laboratories that offer testing for this condition. ClinicalTrials.gov can provide information about ongoing clinical studies and research on X-linked juvenile retinoschisis.

Additional resources for genetic testing information on X-linked juvenile retinoschisis include the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive scientific information on genetic disorders, and PubMed, which contains articles and scientific studies on X-linked juvenile retinoschisis and related topics.

Support and advocacy organizations for X-linked juvenile retinoschisis may also provide information and resources for genetic testing. These organizations can offer support to affected individuals and their families and help them connect with others who are going through similar experiences.

It is important to note that genetic testing is often not covered by insurance and can be expensive. The frequency with which genetic testing is recommended may vary depending on the specific circumstances of each patient.

References:

  • “X-Linked Juvenile Retinoschisis.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis.
  • “X-Linked Juvenile Retinoschisis.” National Organization for Rare Disorders, rarediseases.org/rare-diseases/x-linked-juvenile-retinoschisis/.
  • “Genetic Testing in X-Linked Juvenile Retinoschisis.” Pacific Retina Care, www.pacificretinacare.com/patient-education/genetic-testing-in-x-linked-juvenile-retinoschisis.

Further Reading:

  • Bainbridge, James. “X-Linked Juvenile Retinoschisis.” Eye, vol. 25, no. 3, 2011, pp. 317–322., doi:10.1038/eye.2010.156.
  • Hu, Deborah N., et al. “Evaluation of Patient and Family Perspectives on Clinical Trials for Inherited Retinal Diseases.” JAMA Ophthalmology, vol. 136, no. 8, 2018, pp. 888–896., doi:10.1001/jamaophthalmol.2018.2171.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information on X-linked juvenile retinoschisis and other rare genetic diseases. X-linked juvenile retinoschisis is a rare genetic condition that is typically diagnosed in childhood. It is characterized by impaired visual function, loss of retinal cells, and congenital schisis (splitting) of the retina.

GARD offers a catalog of research articles, clinical trials, and other resources for more information about X-linked juvenile retinoschisis and associated visual impairment. The website provides information on the genetic causes of this condition, inheritance patterns, and frequency in the population.

For those affected by X-linked juvenile retinoschisis, GARD provides additional resources for patient support and advocacy. The website includes information on genetic testing options, names of clinics that specialize in the condition, and scientific publications for further reading.

References to relevant scientific articles can be found on GARD, including links to PubMed and OMIM databases for more detailed information on X-linked juvenile retinoschisis. These resources can be useful for healthcare professionals, researchers, and individuals seeking more information on this rare genetic disease.

GARD is maintained by the National Center for Advancing Translational Sciences (NCATS) and is a valuable tool for learning about rare genetic diseases, including X-linked juvenile retinoschisis. Through GARD, individuals can access up-to-date information on clinical studies, treatment options, and genetic testing availability.

For more information on X-linked juvenile retinoschisis and other rare diseases, visit the GARD website.

Patient Support and Advocacy Resources

Patients and families seeking information and support for X-linked juvenile retinoschisis can turn to a variety of resources. These resources provide information about the condition, its causes, and additional support services for affected individuals.

Information and Support Websites

  • X-Linked Juvenile Retinoschisis Information Page – This page on the National Institutes of Health (NIH) website provides detailed information about X-linked juvenile retinoschisis, including its frequency, causes, inheritance pattern, and clinical features. It also includes links to other resources for further reading.
  • Retinoschisis.net – This website offers comprehensive information about X-linked juvenile retinoschisis, including scientific articles, clinical studies, and patient support resources. It provides a platform for individuals affected by the condition to connect with one another.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database of human genes and genetic disorders. The OMIM entry for X-linked juvenile retinoschisis includes information about the condition, its associated genes, and the inheritance pattern.

Patient Advocacy Organizations

These organizations specialize in providing support, resources, and advocacy for individuals with rare genetic diseases, including X-linked juvenile retinoschisis:

  • X-Linked Retinoschisis International – This organization aims to raise awareness about X-linked juvenile retinoschisis and provide support for affected individuals and their families. They offer resources for coping with the condition, access to clinical trials, and opportunities for involvement in research.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information about rare genetic diseases, including X-linked juvenile retinoschisis. They offer resources for patients, families, and healthcare professionals, including information about clinical trials, genetic testing, and financial assistance.
  • Foundation Fighting Blindness – The Foundation Fighting Blindness is a leading organization dedicated to finding treatments and cures for retinal diseases. They fund cutting-edge research, provide educational resources, and support individuals and families affected by retinal conditions.

Scientific Articles and Studies

Scientific articles and studies can provide additional insights into the causes, clinical features, and treatment options for X-linked juvenile retinoschisis. PubMed and ClinicalTrials.gov are valuable resources for accessing these resources.

  • PubMed – PubMed is a vast database of scientific articles in the field of medicine. Searching for “X-linked juvenile retinoschisis” on PubMed will yield a wealth of articles discussing various aspects of the condition.
  • ClinicalTrials.gov – ClinicalTrials.gov provides information about ongoing clinical trials for various medical conditions. Searching for “X-linked juvenile retinoschisis” on ClinicalTrials.gov may help individuals find opportunities to participate in research studies and potentially access new treatments.
See also  Lesch-Nyhan syndrome

By utilizing these resources, patients and their families can learn more about X-linked juvenile retinoschisis, connect with others facing the same challenges, and find the support and information they need to navigate the condition.

Research Studies from ClinicalTrials.gov

In the field of X-linked juvenile retinoschisis, there are ongoing research studies listed on ClinicalTrials.gov that aim to further understand this rare genetic condition. These studies provide additional resources and support for patients and families affected by X-linked juvenile retinoschisis.

ClinicalTrials.gov is a database that provides information on various clinical trials and research studies conducted worldwide. It offers valuable information about ongoing studies related to X-linked juvenile retinoschisis and other genetic conditions.

The genetic basis of X-linked juvenile retinoschisis lies in the RS1 gene, which is located on the X chromosome. Mutations in this gene cause a loss of retinal cell maintenance, leading to impaired visual function in affected individuals.

The frequency of X-linked juvenile retinoschisis is rare, with affected individuals typically experiencing visual impairment since childhood. The condition is also known by other names, including X-linked congenital retinoschisis and juvenile retinoschisis.

Research studies listed on ClinicalTrials.gov aim to investigate the genetic causes of X-linked juvenile retinoschisis, as well as potential treatments and management strategies. These studies often involve clinical testing and genetic analysis, providing valuable information for the scientific community and patients alike.

It is important for patients and their families to stay informed about ongoing research studies on X-linked juvenile retinoschisis. ClinicalTrials.gov offers a comprehensive catalog of studies in this field, providing access to information and potential participation in research trials.

  • For more information on X-linked juvenile retinoschisis and associated research studies, visit the ClinicalTrials.gov website.
  • The Online Mendelian Inheritance in Man (OMIM) database also provides resources and references related to this condition.
  • Patient advocacy groups and genetic centers can offer support and additional resources for individuals affected by X-linked juvenile retinoschisis.

By participating in research studies and staying informed about new advancements, patients and their families can contribute to the progress in understanding and managing X-linked juvenile retinoschisis.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of various genetic conditions and associated genes. One such condition listed in the catalog is X-linked juvenile retinoschisis.

X-linked juvenile retinoschisis is a congenital condition that is inherited in an X-linked recessive manner. This means the condition is more common in males, who have one X chromosome, compared to females, who have two X chromosomes. The genetic cause of this condition is associated with mutations in the RS1 gene.

The loss of function in the RS1 gene leads to the impairment of retinal cell maintenance, resulting in the characteristic retinoschisis in affected individuals. The condition typically presents in childhood and is characterized by impaired visual support, leading to vision loss.

OMIM provides additional information on X-linked juvenile retinoschisis, including its frequency, clinical features, associated genes, and references to scientific articles and studies. Researchers can learn more about this condition from OMIM and use the catalog as a valuable resource in their research.

In addition to OMIM, other resources such as PubMed and ClinicalTrials.gov may also provide information on X-linked juvenile retinoschisis, including clinical studies and testing options. Advocacy organizations and support groups can also provide assistance and resources for individuals and families affected by this rare condition.

The Catalog of Genes and Diseases from OMIM serves as a valuable tool for researchers and healthcare professionals in understanding the genetic basis and clinical manifestations of various rare diseases, including X-linked juvenile retinoschisis.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable research information about X-linked juvenile retinoschisis, a rare genetic condition typically affecting males. This condition causes impaired vision and can lead to severe visual loss in childhood.

X-linked juvenile retinoschisis is caused by mutations in the RS1 gene, which is involved in the maintenance of the retinal cell structure. The inheritance is X-linked, meaning it is passed down through the mother’s genetic material. The frequency of this condition is rare, with only a few reported cases.

Research articles on PubMed provide additional information about the clinical features and genetic causes of X-linked juvenile retinoschisis. These studies help medical professionals and patients learn more about the condition, its associated genes, and potential treatment options.

PubMed is a resource center that catalogs scientific articles and provides access to a wide range of research studies. It is a valuable tool for researchers, healthcare providers, and advocacy groups. Through PubMed, individuals can find references to scientific articles on X-linked juvenile retinoschisis and other rare diseases.

In addition to PubMed, there are other resources available for learning more about X-linked juvenile retinoschisis. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic causes of various diseases, including X-linked juvenile retinoschisis. ClinicalTrials.gov is another useful website for finding information on ongoing clinical trials related to this condition.

With advances in genetic testing and research, more is being learned about X-linked juvenile retinoschisis. Scientific articles on PubMed and other resources help to increase understanding of this rare genetic condition and provide support for affected individuals and their families.

  1. Retinoschisis. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/retinoschisis
  2. RS1 retinoschisis. (n.d.). OMIM. Retrieved from https://omim.org/entry/312700
  3. Kobayashi, H., & Yanagi, Y. (2015). Pathogenesis and gene therapy for juvenile retinoschisis. Advanced Experimental Medicine and Biology, 854, 439-445. doi: 10.1007/978-3-319-17121-0_58
  4. Walton, E., & Crichton, A. (2017). X-linked juvenile retinoschisis: Clinical presentation, genetic molecular biology, imaging modalities and therapeutic management. Saudi Journal of Ophthalmology, 31(1), 32-35. doi: 10.1016/j.sjopt.2016.12.001
References:

References

  • Support: For more information and support on X-linked juvenile retinoschisis, visit the X-Linked Retinoschisis International Juvenile Retinoschisis Support Center.

  • Research: Learn more about X-linked juvenile retinoschisis through scientific articles and genetic research papers available on PubMed.

  • ClinicalTrials.gov: Find information on ongoing clinical trials and studies related to X-linked juvenile retinoschisis on ClinicalTrials.gov.

  • OMIM: Visit the Online Mendelian Inheritance in Man (OMIM) database to access detailed information on X-linked juvenile retinoschisis and associated genes.

  • Genetic Testing: To confirm a diagnosis of X-linked juvenile retinoschisis, genetic testing can be conducted to identify mutations in the responsible gene.

  • Advocacy and Support: Connect with advocacy groups and find additional resources for X-linked juvenile retinoschisis through organizations such as Retina International and the Foundation Fighting Blindness.