Clinical and Molecular Studies in Families With Inherited Eye Disease

Background: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Objective: To try to identify the genes linked to the development of inherited eye diseases. Eligibility: People ages 4 and older who have or have a family member with an inherited eye disease Design: Participants will be screened with medical history and medical records. Participants will have one visit that will take 3-4 hours. This will include: Medical and family history Eye exam: This includes the pupil being dilated. Electroretinography: A small electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in the eyes. They will watch flashing lights. Blood tests Saliva sample: They will spit into a container or have the inside of their cheek swabbed. Genetic testing will be done on participants blood or saliva. Participants may meet with the researchers to discuss their genetic tests.

NCT Number	NCT02771236
Lead Sponsor	National Eye Institute (NEI)
Conditions	Inherited Eye Disease
Enrollment	5,000 participants
Start Date	2016-10-04
Primary Completion	2032-01-01 (estimated)
Study Completion	2032-01-01 (estimated)
Updated on ClinicalTrials.gov	2026-08-07