Actively Recruiting

Age: 4Years - 120Years
All Genders
NCT02771236

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

Age: 4Years - 120Years
All Genders

Eligibility Criteria

Eligible

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.
Not Eligible

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

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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

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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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Clinical and Molecular Studies in Families With Inherited Eye Disease | DecenTrialz