Actively Recruiting
Clinical and Molecular Studies in Families With Inherited Eye Disease
Led by National Eye Institute (NEI) · Updated on 2026-06-05
5000
Participants Needed
10
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying inherited eye diseases, including both congenital and age-related conditions, to better understand the genes involved and how these genetic changes affect the eye. The study includes families and individuals from diverse backgrounds who have or are related to someone with inherited eye diseases such as cataracts, corneal dystrophies, retinal degenerations, myopia, and glaucoma. This observational study aims to identify specific genes and the biological processes linked to these eye conditions. Participants will have one visit lasting 3 to 4 hours during which they will undergo a detailed eye exam including pupil dilation, electroretinography, blood tests, and saliva collection for genetic testing. Researchers will analyze genetic material from blood or saliva to find mutations associated with inherited eye diseases. Some participants may also discuss their genetic test results with the study team. During the visit, participants' medical and family histories will be reviewed, and several assessments will be conducted to characterize their eye health. The study measures clinical and genetic features of visual disorders using various genetic and biochemical analyses. Participation involves only one visit, and safety is monitored by excluding those with infections or conditions that mimic inherited eye diseases. The research may continue reviewing genetic data until 2032.
CONDITIONS
Brief 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, either congenital, childhood, or age related.
- All participants must be able to cooperate with study examination and blood sample collection.
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 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
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 screening and enrollment visit (in-person)
Duration - Varies depending on participant and family assessment
Participants undergo detailed eye examinations and blood sample collections to characterize their visual system and identify genetic mutations associated with inherited eye diseases.
1 or more visits for eye exams and blood sample collection
Duration - Up to 10 years
Participants are observed over time to document the clinical and genetic features of their inherited eye disorders.
Periodic follow-up visits depending on individual or family needs
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
Suspended
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
Suspended
Research Team
J
James F Hejtmancik, M.D.
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
Frequently Asked Questions
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