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โ† Trials
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Genetics of Inherited Eye Disease

Recruitingn/aAges 1 Year - 120 YearsAllNational Eye Institute (NEI)
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In plain words

What the trial is, and whether it could suit you

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 tes

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
* 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.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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