Recruiting

Genetic Testing

Sponsor:

National Eye Institute (NEI)

Code:

NCT02471287

Conditions

Genetic Eye Disease

Eligibility Criteria

Sex: All

Age: 1 - 70+

Healthy Volunteers: Accepted

Study Details

Brief 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

Study ID

NCT02471287

Start date

Jun 22, 2015

Status verified date

Aug 18, 2026

Completion date

Sep 1, 2030

Anticipated

Primary completion date

Sep 1, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 1 - 70+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA:

Participants will be eligible if they:

1. Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
2. Have the ability to cooperate with an age-appropriate eye exam.
3. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able

to provide consent.

EXCLUSION CRITERIA:

Participants will not be eligible if:

1. They are unwilling or unable to be followed as clinically indicated.
2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
3. Their participation would not contribute to the NEI research mission, at the discretion of the PI.

Exclusion Criteria for MRI (if applicable)

Participants will not be eligible for optional MRI procedure if:

1. They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
2. They have claustrophobia and would feel uncomfortable in the MRI machine.
3. They are not able to lie comfortably on their back for up to one (1) hour.

Study Design

Enrollment

1500 participants

Anticipated

Interventions and Outcome Measures

Arms

Affected Participants

Participants with eye disease

Healthy volunteers

Unaffected first degree relatives of participants with a known or suspected inherited eye disease.

Primary outcome measure

  • Establish cohort [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Daniel W Claus, R.N.

(301) 451-1621daniel.claus@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Eye Institute (NEI)

Last update posted

Aug 27, 2026

Last verified

Aug 18, 2026

Keywords

  • Rare
  • Ocular

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Eye Institute (NEI) on 2026-08-27.