Ongoing Study - Not Currently Enrolling

eyeGENE® National Ophthalmic Disease Genotyping Network

Purpose of study:

The eyeGENE project aims to advance eye research by learning more about the genetic causes of inherited eye diseases.

What is eyeGENE®?

We are working with researchers at the National Eye Institute (NEI) to set up a system called the eyeGENE® network. Through this system, we will enroll people with a number of different eye diseases. The information and DNA obtained will be used to test for certain genes that might be involved in the eye disease that is thought to affect the individual or family. Once testing is complete, the results as well as any leftover DNA and corresponding clinical information will be placed in a repository, or “bank,” to make it available to researchers, now and in the future.

eyeGENE logo

What is involved?

Participation involves one visit to the Eye Institute that will take up to one hour. We will collect clinical information from a recent eye exam, collect some family and medical history, and perform a blood draw.

The information collected will be entered into the eyeGENE® database along with the blood sample. Research volunteers will have the option to receive the results of the genetic testing as well as the option to be contacted in the future if a researcher develops a study that the research volunteer may be eligible to participate in. It takes anywhere from 4 months to more than 1 year to receive the genetic testing results depending on the condition studied.


Research volunteers will not be paid for participating in this project.

You may be eligible to participate in this study if you meet these criteria.
  1. If you have one of the following eye conditions:
    • Achromatopsia
    • Choroideremia
    • Stargardt disease
    • Retinitis Pigmentosa
  2. A full list of conditions may be found on the eyeGENE® website.
  3. You are willing and able to provide informed consent.

More Information:

Additional information about the eyeGENE® project can be found on the eyeGENE® website.

IRB Approval:  CHW 08/228, 10/3/2012

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Page Updated 01/05/2016