We’ve gathered a list of resources that may help you learn more about inherited retinal diseases (IRDs), living with vision loss, the complexity of genetics, and gene therapy research.
Please note: Some of the groups, agencies, and resources listed below are independent organizations and are not affiliated with Spark Therapeutics. By clicking a link on this page, you are leaving our website. Spark Therapeutics assumes no responsibility for any content you may encounter outside of this website.
American Academy of Ophthalmology
American Association for Pediatric Ophthalmology and Strabismus
American Council of the Blind
American Foundation for the Blind
American Optometric Association
Caregiver Action Network
Center for Parent Information and Resources
Clinical trial information
EveryLife Foundation for Rare Diseases
Guide Dogs for the Blind
National Association of Guide Dog Users
National Eye Institute
National Federation of the Blind
National Organization for Rare Disorders (NORD)
Genetics and Rare Diseases Information Center
National Society of Genetic Counselors
Online Mendelian Inheritance in Man
Stanford at The Tech: Understanding Genetics
Cheek (buccal) swab
A buccal swab is the process of collecting a sample of cells from the cheek.
Choroid is a layer of the eye that is rich in blood vessels, and supplies oxygen and nutrients to the retina.
Cone cells are photoreceptors in the retina that help with daytime or bright light vision as well as color vision.
Congenital means diseases or conditions present at birth.
Dystrophy is used to describe a disease in which certain tissues or organs of the body degenerate or waste away.
Eye care specialist
Because IRDs are complicated diseases that can have many impacts on a patient’s life as well as their family, the care team will typically include a retina specialist, a genetic counselor, and a low-vision specialist.
A mutation is a change or a defect in a part of a gene or DNA.
Healthcare professionals (HCPs)
HCPs may include family doctors, pediatricians, nurses, ophthalmologists, retinal specialists, genetic counselors, and other medical staff.
A small yellowish area near the center of the retina, the macula is composed mostly of cone cells and plays a key role in central vision and sharpness of vision.
Photoreceptors are cells within the retina of the eye that sense light and relay to the brain what the eye is “seeing.” There are 2 types of photoreceptors: rod cells and cone cells.
Worsens over time.
The retina is a membrane lining the eye that helps with vision. It receives the image relayed by the lens and converts it into chemical and nervous signals that are transmitted to the brain.
Rod cells are photoreceptors in the retina that are sensitive to small amounts of light and thus are useful for nighttime or low-light vision.
Tunnel vision describes a restricted field of view in which a person can see well straight ahead but has limited vision on the sides, much like looking through a tunnel.
An X-linked disease occurs due to a genetic defect in the X chromosome. Men have 1 X chromosome, while women have 2.
Choroideremia Research Foundation
Curing Retinal Blindness
Foundation Fighting Blindness
My Retina Tracker
Research to Prevent Blindness
Usher Syndrome Coalition
My Retina Tracker Registry
My Retina Tracker Program
Connect with the My Retina Tracker® Program
Learn how the Foundation Fighting Blindness partners with Blueprint Genetics and InformedDNA® to provide no-cost genetic testing and genetic counseling to individuals with IRDs and offers a registry to gather community data and move research forward.
Stay connected to families, specialists, and advocates who share their insights.
- Get updates about IRD testing options.
- Hear the IRD community talk about their experiences.
- Benefit from a supportive community.