Natural History, Pathogenesis, and Outcome of Ocular Disorders

NCT02821767 | Recruiting

• 2 other identifiers: 16013416-EI-0134
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

Background: The National Eye Institute (NEI) wants to evaluate and provide standard treatment to people with eye diseases. Objective: To examine and treat people with eye diseases and learn more about eye diseases and how they are inherited. Eligibility: People with eye diseases who can give consent or have a guardian who can consent for them. Asymptomatic first-degree relatives willing to provide a blood sample may also be enrolled for the purpose of genetic testing. Design: Participants will be screened with an eye exam. Participants will have 1-12 visits per year depending on their eye disease for up to 5 years. Visits last about 4 hours and could include: Medical and family history Physical exam Eye exam and photography. Oculography: They put on contact lenses or goggles. They watch spots on a computer screen for 20-30 minutes. Electrooculography: Small metal disks are placed on the skin next to both eyes. They look left and right in the dark and light for about 30 minutes. Electroretinography: They sit in the dark with their eyes patched. A small metal disk is taped to the forehead. After 30 minutes, the patches are removed and contact lenses put in. They watch flashing lights. Fluorescein angiography: A needle guides a thin plastic tube into an arm vein. A dye is injected through the tube and travels up the blood vessels in the eyes. Pictures are taken of the eyes. Immunosuppressive treatment Eye cell sample: Samples are obtained from swabbing, pressing paper on, or taking a small biopsy sample from the surface of the eye. Blood tests Skin, tear, urine, saliva, stool, or hair sample Exam under anesthesia for some children At each visit participants could get medications, eye drops, eye injections, laser treatments, or surgery.

Conditions

Eye Disease

Keywords

Eye Disease; Natural History

Outcome Measures

Primary Outcomes (1)

• No formal outcomes will be measured; however, the clinical assessments of enrolled participants can be used to measure the response to standard treatment.

  response to standard care of treatment

  ongoing

Study Arms (1)

Participants

subjects with diagnosed or undiagnosed ocular conditions and/or their first-degree relatives

Eligibility Criteria

• Age: 1 Month - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary Clinical

You may qualify if:

• Have a diagnosed, undiagnosed or suspected eye disease.
• Have the ability to understand and sign an informed consent or have a parent/legal guardian do so if they are minor children or a legally authorized representative to provide consent for adults without consent capacity.

You may not qualify if:

• Are unwilling to give informed consent or assent when applicable.
• Are unwilling or unable to be followed as clinically indicated.
• Have a systemic disease that compromises the ability of NEI clinicians to provide adequate ophthalmologic examination or treatment.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Eye Diseases

Study Officials

• Awilda V Holland, R.N.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Awilda V Holland, R.N.

CONTACT

(301) 435-1831; aholland@nei.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 29, 2016
• First Posted: July 4, 2016
• Study Start: August 3, 2016
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2026
• Last Updated: April 24, 2026

Record last verified: 2025-12-19

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)