Genetics of Inherited Eye Disease

Conditions

• Genetic Eye Disease

Eligibility Criteria

Sex

ALL

Age

1 Year - 120 Years

Healthy Volunteers

Accepted

Study Details

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.

Key Dates

Start date

Jun 22, 2015

Status verified

Jun 2026

Primary completion

Sep 1, 2030

Completion

Sep 1, 2030

Study Design

Enrollment

1,500 participants (estimated)

Arms

• Arm: Affected Participants
  Participants with eye disease
• Arm: 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

• Daniel W Claus, R.N.
  (301) 451-1621
  [email protected]

Locations (1)

Find similar trials in Bethesda, MD

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