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Genetics of Inherited Eye Disease

NCT02471287 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1500

Last updated 2026-05-07

No results posted yet for this study

Summary

Background:

Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes.

Objective:

To learn more about genes involved in eye diseases.

Eligibility:

People who have a known or suspected inherited eye disease, and their relatives.

Design:

* All participants will have a medical history, physical exam, and eye exam. They will have blood taken.
* Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure.
* Participants may have a skin biopsy. A 3mm piece of skin will be removed.
* Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells.
* Participants may have a retina test. They may also have a test that uses light to measure retina thickness.
* Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes.
* Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels.
* Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light.
* Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen.
* Participants may complete a color vision test.
* Participants will provide a specimen for genetic testing.
* Participants may have a MRI.
* Participants may complete questionnaires.

Conditions

  • Genetic Eye Disease

Sponsors & Collaborators

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • Laryssa A Huryn, M.D. · National Eye Institute (NEI)

Eligibility

Min Age
1 Year
Max Age
120 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-06-22
Primary Completion
2030-09-01
Completion
2030-09-01

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02471287 on ClinicalTrials.gov