Background:
\- The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Researchers want to look at blood and skin samples from people with ABCA4 gene mutations to study related eye diseases.
Objectives:
\- To study eye diseases that are related to mutations in the ABCA4 gene.
Eligibility:
\- Individuals at least 12 years of age who have ABCA4 gene mutations.
Design:
* The study requires 12 visits to the National Eye Institute clinic over 10 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 9 more years.
* Participants will be screened with a physical exam, full eye exam, and medical history. The eye exam will check eye pressure, light and color sensitivity, and retina function.
* Participants will provide a blood sample and a skin tissue sample for study.
* No treatment will be provided as part of this study.
Protocol Amendment History
280 amendments
This ClinicalTrials.gov record has been amended 280 times since 2012-11-27; most recent amendment 2026-07-25.
Status change: Recruiting → Active, Not Recruiting2020-04-08