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Protocol Details

The Genetics of Inherited Eye Disease

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

15-EI-0128

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

No

Population Exclusion(s)

None

Special Instructions

Keywords

Ocular Genetic Diseases;
GENETIC DISEASE

Recruitment Keyword(s)

None

Condition(s)

Genetic Eye Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Eye Institute

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 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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Eligibility

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.

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.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Wadih Zein, 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) 496-9058
daniel.claus@nih.gov

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: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT02471287

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