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Genetics of Inherited Eye Disease

National Eye Institute (NEI) · NCT02471287

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 1–120 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
1500
US sites recruiting
1
Study start
June 22, 2015
Record last updated
October 16, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • INCLUSION CRITERIA:

Participants will be eligible if they

  • 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.
  • Have the ability to cooperate with an age-appropriate eye exam.
  • 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

  • They are unwilling or unable to be followed as clinically indicated.
  • They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
  • 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:

  • 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.
  • They have claustrophobia and would feel uncomfortable in the MRI machine.
  • They are not able to lie comfortably on their back for up to one (1) hour.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · ccopr@nih.gov

Study contacts (from the official record)

  • Daniel W Claus, R.N. · (301) 451-1621 · daniel.claus@nih.gov
All healthy volunteers studies in Maryland →
Genetics of Inherited Eye Disease (NCT02471287) | Bored Studies