Genetics of Inherited Eye Disease

Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes. Objective: To learn more about genes involved in eye diseases. Eligibility: People who have a known or suspected inherited eye disease, and their relatives. Design: * All participants will have a medical history, physical exam, and eye exam. They will have blood taken. * Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure. * Participants may have a skin biopsy. A 3mm piece of skin will be removed. * Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells. * Participants may have a retina test. They may also have a test that uses light to measure retina thickness. * Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes. * Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels. * Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light. * Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen. * Participants may complete a color vision test. * Participants will provide a specimen for genetic testing. * Participants may have a MRI. * Participants may complete questionnaires.

NCT Number	NCT02471287
Lead Sponsor	National Eye Institute (NEI)
Conditions	Genetic Eye Disease
Enrollment	1,500 participants
Start Date	2015-06-22
Primary Completion	2030-09-01 (estimated)
Study Completion	2030-09-01 (estimated)
Updated on ClinicalTrials.gov	2026-07-23