Actively Recruiting
Clinical and Molecular Studies in Families With Inherited Eye Disease
Led by National Eye Institute (NEI) · Updated on 2026-04-28
5000
Participants Needed
10
Research Sites
795 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Clinical and Molecular Studies in Families With Inherited Eye Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant must be four years of age or older.
- Participant must understand and sign the informed consent document.
- Individuals or family members of individuals with inherited eye diseases, including congenital, childhood, or age related.
- All participants must be able to cooperate with study examinations and blood draws.
You will not qualify if you...
- Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, or similar conditions.
- Participant has a significant active infection requiring treatment or a history of chronic or recurrent infections.
- Participant requires sedation for study purposes.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 10 locations
1
University of California, San Diego
La Jolla, California, United States, 92093-0603
Actively Recruiting
2
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
3
Duke University Eye Center
Durham, North Carolina, United States, 27708
Withdrawn
4
Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University
Guangzhou, China
Actively Recruiting
5
Aravind Medical Research Foundation
Madurai, India
Withdrawn
6
Seconda Universita di Napoli
Naples, Italy, 80014
Withdrawn
7
National Centre of Excellence in Molecular Biology, University of the Punjab
Lahore, Pakistan, 53700
Actively Recruiting
8
University of the Philippines
Manila, Philippines, 4031
Actively Recruiting
9
The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy
Odesa, Ukraine, 6500
Actively Recruiting
10
University of Exeter
Exeter, United Kingdom
Actively Recruiting
Research Team
J
James F Hejtmancik, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
5
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