Clinical and Molecular Studies in Families With Inherited Eye Disease

Recruiting now

Conditions studied: Inherited Eye Disease

In brief

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.

Key facts

Study ID

NCT02771236

Run by

National Eye Institute (NEI)

People needed

5000

Starts

2016-10-04

Expected to finish

2032-01-01

Last updated by the study team

2026-08-07

Who can join

Age: 4 and older, up to 120. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• A participant is not eligible if any of the following exclusion criteria are present:
• Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
• Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
• Participant requires sedation for study purposes.

Where it is running

• Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University — Guangzhou, China (enrolling)
• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
• University of the Philippines — Manila, Philippines (enrolling)
• The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy — Odesa, Ukraine (enrolling)
• University of California, San Diego — La Jolla, California, United States (enrolling)
• University of Exeter — Exeter, United Kingdom
• Duke University Eye Center — Durham, North Carolina, United States
• Aravind Medical Research Foundation — Madurai, India
• Seconda Universita di Napoli — Naples, Italy
• National Centre of Excellence in Molecular Biology, University of the Punjab — Lahore, Pakistan

Full record on ClinicalTrials.gov

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