eyeGENE® Patients

How You Can Help Medical Research–Donating Your Blood, Tissue, and Other Samples.

¿Cómo puede usted contribuir a la investigación médica?–Done su sangre, sus tejidos y otras muestras.

Are you eligible to participate in eyeGENE®?

  • You may only participate in eyeGENE® by seeing a health care provider (i.e., ophthalmologist, optometrist, geneticist, genetic counselor, neurologist, etc.)., who must register with eyeGENE® and provide information about your eye condition
  • You must have an eye condition that eyeGENE® is studying. Please ask your eye healthcare provider, or check eyeGENE®’s list of diseases and genes.
  • People of any age may participate in eyeGENE®.
  • Some family members who do not have an eye disease may also participate if they are related to someone who does. Please ask your eye healthcare provider for more details.
  • Genetic testing is not offered for unborn children.

What are the steps necessary for you to participate in eyeGENE®?

  • Step 1 - You should talk to your eye health care provider about your interest in participating in eyeGENE®. If your provider does not know about eyeGENE®, please ask him/her to contact us.
  • Step 2 -Your eye health care provider (or a member of his/her staff) will register you with eyeGENE® and enter your personal information (such as your name, address, and date of birth) and information about your eye condition (such as how old you were when you first noticed your symptoms) into the secure eyeGENE® database. Please note that the cost of the eye exam is not covered by eyeGENE®. Your eye health care provider will provide or arrange for genetic counseling for you. Through genetic counseling you will learn what a genetic test is, what the test will or will not tell you, and what a positive result (i.e., finding the gene[s] causing your eye condition) may mean to you and other family members. Please note that the cost of genetic counseling is not covered by eyeGENE®.
  • Step 3 - You will complete a consent form to participate in the eyeGENE® research study. Minors need permission from one parent or guardian to participate. Consenting means you agree to have your DNA/blood stored indefinitely and later used for eye research by approved researchers in the vision community. You can decide if:
    • You want your test results back.
    • You want to be contacted by the eyeGENE® Coordinating Center if a researcher would like you to contact them about a study that is independent of eyeGENE®.
  • Step 4 - You will need to get your blood drawn (about 6 tablespoons of blood for adults, and 3 tablespoons for children) and have it shipped to the eyeGENE® Coordinating Center. Your eye health care provider can help you with this process. Please note that eyeGENE® cannot pay for the blood draw or shipping costs. Your blood sample will be processed into DNA. Your DNA will be de-identified and coded when it goes into the eyeGENE® storage bank. If a genetic test is available through eyeGENE®, a sample of your coded DNA will be shipped to a genetic testing laboratory. Personal identifying information, like your name and address, will be removed from your clinical information and samples, which will be assigned a code number when shipped to the testing laboratory. If your samples are requested by researchers, they are only provided coded information on DNA samples as well. They will not have access to your personal information.
  • Step 5 - Your test results will be returned to you through your eye health care provider, which may take several months to over a year. Your eye health care provider will explain the test results to you and/or arrange for genetic counseling. Please keep in mind that testing does not always give a positive or clear result, and some tests are harder to complete and explain. There is no charge to participants for genetic testing through eyeGENE® regardless of how many genes are tested for you.
  • Step 6 - Keep the eyeGENE® Coordinating Center updated as to any change in contact information (for example, your address and telephone number), so that the eyeGENE® Coordinating Center may contact you regarding participation in clinical trials offered outside of eyeGENE® (if you have chosen to be contacted).

What are the benefits and risks?


The vision community has learned a lot about inherited eye diseases over the past several decades. By increasing the number of people who can get genetic testing and by allowing eye researchers to study a large number of DNA samples, the vision community will be able to increase its knowledge and be better able to develop treatments for inherited eye diseases. By participating in this study, you will help us reach these goals. You may also learn more about the genetics of your own inherited eye disease. In addition, as an eyeGENE® participant, you may elect to be re-contacted for research trials offered outside of the eyeGENE® Program.


Genetic testing may provide information about how an eye condition is passed on within your family, which may cause you or your relatives stress or anxiety. It might also affect your relationship with your relatives. Insurance or work discrimination might occur if you disclose this information even though a federal anti-discrimination law (Genetic Information Nondiscrimination Act of 2008, or GINA) is in place. Please know that we will not release this information to anyone except you without your written permission. Risks are further described in the consent form and you are encouraged to ask questions.