X-linked juvenile retinoschisis (XLRS) is a genetic ocular disease characterized by reduced visual acuity in males due to juvenile macular degeneration.
X-linked juvenile retinoschisis manifests with poor vision and reading difficulties.
In severe cases, nystagmus, full-thickness retinal detachment that leads to impaired vision or blindness.
In advanced stages, vitreous hemorrhage, retinal detachment, and neovascular glaucoma, which may induce severe loss of vision, can be seen. Female carriers rarely have any vision impairment.
Mutations on the RS1 gene (Xp22.2-p22.1), including missense, nonsense, and splice site mutations, deletions, and insertions. RS1 codes for retinoschisin, an adhesive protein that is believed to participate in the structural and functional integrity of the retina.
The diagnosis can be clinically, based on fundus appearance. Fundus examination shows microcystic changes of the macular region of the retina and areas of splitting within the nerve fiber layer, or schisis (spoked-wheel pattern), and vitreous veils.
Electroretinogram (ERG) shows a reduction in the amplitude of the beta-wave and a relative preservation of the negative alpha-wave in scotopic ERG (electronegative rods and mixed ERG) and a normal photopic ERG.
Optical coherence tomography (OCT) shows schisis areas in the macular region. There is also a family history consistent with X-linked inheritance. Molecular genetic analysis by direct sequencing of the RS1 gene detects mutations in approximately 90% of patients.
In X-linked juvenile retinoschisis, vision decreases slowly until adolescence, and then in most cases remains relatively stable during young adulthood. The disease does not progress again until the fouth or fifth decade of life, when a significant decline in visual acuity typically occurs.
Rare Disease Organizations
A non-governmental patient-driven alliance of patient organizations representing 724 rare disease patient organizations in 64 countries.
National Organization for Rare Disorders
Provides a unified voice for the 30 million people who wake up every day to fight the battle with a rare disease, including parents and caregivers.
Rare Disease Legislative Advocates
A program of the EveryLife Foundation for Rare Diseases designed to support the advocacy of all rare disease patients and organizations.
A nonprofit health advocacy organization that engages individuals, families, and communities to transform health. They create ways to make it easier to find or build solutions in health services and research.
A rare disease patient advocacy organization that aims to build awareness, educate the global community and provide critical connections and resources that equip advocates to become activists for their disease.
An online database of publicly and privately supported clinical studies conducted around the world. ClinicalTrials.gov currently lists thousands of studies with locations in all 50 states and in 191 countries.
Genetics Home Reference
An online resource from the National Institutes of Health. The website provides easy-to-understand information about genetic conditions and a range of topics. You’ll find basic explanations of how genes work and how mutations cause disorders. It also includes current information about genetic testing, gene therapy, and the Human Genome Project.
National Society of Genetic Counselors
Provides a helpful, easy-to-use online directory to help connect physicians, patients, and other genetic counselors. Search by state, city, counselor’s name, institution, work setting, type of specialty, or zip code.
Resources for Families and Caregivers
A unique social hub building communities for patients, families, and healthcare professionals affected by rare disorders.
Caregiver Action Network (CAN)
The nation’s leading family caregiver organization working to improve the quality of life for the more than 90 million Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. CAN (formerly the National Family Caregivers Association) is a nonprofit organization providing education, peer support, and resources to family caregivers across the United States free of charge.
Center for Parent Information & Resources
A central resource of information and products to the community of Parent Training Information Centers and the Community Parent Resource Centers so they can focus their efforts on serving families of children with disabilities.
Cyberbullying Research Center
Dedicated to providing up-to-date information about the nature, extent, causes, and consequences of cyberbullying, it is intended to be a resource for parents, educators, law enforcement officers, counselors, and others who work with youth. You will find facts, figures, and detailed stories from those who have been directly affected by online aggression. In addition, the site includes numerous resources to help you prevent and respond to cyberbullying incidents.
Family Caregiver Alliance (FCA)
A community-based nonprofit organization that that aims to illuminate the caregivers’ daily challenges to better the lives of caregivers nationally, provide them the assistance they need, and champion their cause through education, services, research and advocacy. FCA offers programs at national, state, and local levels to support and sustain caregivers.
Family Voices aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities. Throughout their national grassroots network, they provide families resources and support to make informed decisions, advocate for improved public and private policies, build partnerships among families and professionals, and serve as a trusted resource on health care.
An email list of family of parents, caregivers and others who are working with children with physical and/or mental disabilities and delays.
Parent to Parent USA
Programs offering parent-to-parent support as a core resource for families with children who have a special health care need, disability, or mental health issue. Through a one-to-one “match,” experienced support parents provide emotional support to families and assist them in finding information and resources.
Sibling Support Project
A national program dedicated to the lifelong and ever-changing concerns of the millions of brothers and sisters of people with special health, developmental and mental health concerns.
A website providing information from various government agencies on what bullying is, what cyberbullying is, who is at risk, and how you can prevent and respond to bullying.
The Bully Project
Inspired by the award-winning film BULLY, this social action campaign includes tools for educators to spark meaningful conversations about bullying.
The Parent Advocacy Center for Educational Rights (PACER Center)
PACER Center is a parent training and information center for families of children and youth with all disabilities from birth to young adults. Parents can find publications, workshops, and other resources to help make decisions about education, vocational training, employment, and other services for their children with disabilities. PACER’s National Bullying Prevention Center provides resources designed to benefit all students, including those with disabilities.
The Washington State Fathers Network (WSFN)
The Washington State Fathers Network (WSFN) connects men with other dads, resources, information and education, plus opportunities for “all family” celebrations. Focus is on assisting fathers as they become more competent and compassionate caregivers for their children with special needs. WSFN is the only regional program in the US and Canada fully devoted to fathers of children with special health care needs and developmental disabilities. Since 1986 it has opened new doors of hope for thousands of men and their families, providing them with support and resources to be effective, nurturing dads.
General Health Resources
Agency for Healthcare & Research Quality (AHRQ)
Aims to provide evidence to make health care safer, higher quality, more accessible, equitable and affordable, and to work with the US Department of Health and Human Services and with other partners to ensure that the evidence is used and understood.
Health Hotlines (National Library of Medicine)
A community service to help the public locate health-related information.
Social Security Administration Compassionate Allowances Program
Provides a way of quickly identifying diseases and other medical conditions that may qualify for financial assistance.
Center on Technology & Disability
Designed to increase the capacity of families and providers to advocate for, acquire, and implement effective assistive and instructional technology practices, devices, and services for those who suffer from disabilities.
National Human Genome Research Institute
Developed with the goal of mapping the human genome, the group provides a list of resources for financial assistance with genetic testing.
National Library of Medicine
Provides guidance on how to find reliable information online regarding human genetics.
Patient Advocate Foundation
Provides professional case management services to individuals facing barriers to healthcare access for chronic and disabling disease, medical debt crisis, and employment-related issues at no cost.