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

Understanding IRDs and genetic testing

Download Guide

The genetic testing process

Download Guide

Follow-up after testing

Download Guide

General

American Academy of Ophthalmology

aao.org

American Association for Pediatric Ophthalmology and Strabismus

aapos.org

American Council of the Blind

acb.org

American Foundation for the Blind

afb.org

American Optometric Association

aoa.org

Caregivers Action Network

rarecaregivers.org

Center for Parent Information and Resources

parentcenterhub.org/repository/visualimpairment

Clinical trial information

clinicaltrials.gov

EURORDIS

eurordis.org

Everylife Foundation

everylifefoundation.org

Family Connect

familyconnect.org

Global Genes

globalgenes.org

Guide Dogs for the Blind

guidedogs.com

National Association of Guide Dog Users

nagdu.org

National Eye Institute

nei.nih.gov

National Federation of the Blind

nfb.org

National Organization for Rare Disorders (NORD)

rarediseases.org

Vision Serve Alliance

visionservalliance.org

Genetics

Genetic Alliance

geneticalliance.org

Genetics and Rare Diseases Information Center

rarediseases.info.nih.gov

Genes in Life

genesinlife.org

MedlinePlus

medlineplus.gov/genetics

National Society of Genetic Counselors

www.nsgc.org

Online Mendelian Inheritance in Man

omim.org

Stanford at The Tech: Understanding Genetics

genetics.thetech.org

Your Genome

yourgenome.org

Glossary
Cheek (buccal) swab

A buccal swab is the process of collecting a sample of cells from the cheek.

Choroid

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

Congenital means diseases or conditions present at birth.

Dystrophy

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.

Macula

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

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.

Progressive

Worsens over time.

Retina

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

curechm.org

Curing Retinal Blindness

crb1.org

eyeGene

eyegene.nih.gov

Foundation Fighting Blindness

fightingblindness.org

Lighthouse Guild

lighthouseguild.org

My Retina Tracker

myretinatracker.org

Prevent Blindness

preventblindness.org

RDH12 Fund for Sight

rdh12.org

Research to Prevent Blindness

rpbusa.org

Retina International

retina-international.org

RetNet

sph.uth.edu/retnet

Usher Syndrome Coalition

usher-syndrome.org

WonderBaby

wonderbaby.org

My Retina Tracker Registry

Genetic testing options

ID YOUR IRD® logo

Ready to ID YOUR IRD®?

Sponsored by Spark Therapeutics, the ID YOUR IRD initiative provides free genetic testing for qualified US residents who may be living with an IRD.

Learn more

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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