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Protocol Details

The Genetics of Inherited Eye Disease

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: N/A
Max Age: N/A

Referral Letter Required


Population Exclusion(s)




Recruitment Keyword(s)



Genetic Eye Disease

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Eye Institute


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.


To learn more about genes involved in eye diseases.


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


- All participants will have a medical history, physical exam, and eye exam. They may 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 (Omega)-inch piece of skin will be removed.

- Participants may have blood drawn and the red blood cells removed. The remaining serum will be made into an eye drop solution for the participant.

- 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.

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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.


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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Not Provided

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Principal Investigator

Referral Contact

For more information:

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

Daniel W. Claus, R.N.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10D45
10 Center Drive
Bethesda, Maryland 20892
(301) 451-1621

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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