Additional resources

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.

Discussion guides

The genetic testing process

Download Guide

Follow-up after testing

Download Guide


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


Global Genes

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)

VisionServe Alliance


Genetic Alliance

Genetics and Rare Diseases Information Center


National Society of Genetic Counselors

Online Mendelian Inheritance in Man

Stanford at The Tech: Understanding Genetics

Your Genome

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

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.

Gene mutation

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

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

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.

X-linked disease

An X-linked disease occurs due to a genetic defect in the X chromosome. Men have 1 X chromosome, while women have 2.

Inherited retinal diseases (IRDs)

Choroideremia Research Foundation

Curing Retinal Blindness


Foundation Fighting Blindness

Lighthouse Guild

My Retina Tracker

Prevent Blindness

Research to Prevent Blindness

Retina International


Usher Syndrome Coalition

My Retina Tracker

My Retina Tracker Registry

My Retina Tracker Program

My Retina Tracker logo

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.

Learn more

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.

Stay informed

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