Natural History, Pathogenesis, and Outcome of Ocular Disorders

Study Overview
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Brief Summary
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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.

Detailed Description
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The National Eye Institute (NEI) is conducting a study to evaluate and provide standard treatment to participants with various diagnosed and undiagnosed ocular conditions. Objective: The primary objective of this protocol is to provide short term follow-up of patients, usually in conjunction with a referring physician. In addition, this protocol allows clinicians at the NEI to maintain their expertise in evaluating and treating various eye disorders for which there may not be specific research studies. The knowledge gained may lead to ideas for future clinical research studies. Study Population: The number of participants to be enrolled has no logical upper limit, but will be set to 1,000 patients with ocular diseases. Design: This is an observational natural history study of multiple ocular diseases and their progression and physiology. Outcome Measures: No formal outcomes will be measured; however, the clinical assessments of enrolled participants can be used to measure the response to standard treatment.

Official Title
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Studies of the Natural History, Pathogenesis and Outcome of Ocular Disorders

Conditions
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Eye Disease

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable. 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 legal guardian to provide consent for adults without consent capacity. EXCLUSION CRITERIA: A participant is not eligible if any of the following exclusion criteria are present. 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.

Ages Eligible for Study
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Minimum Age: 1 Month
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants<br>subjects with diagnosed or undiagnosed ocular conditions and/or their first-degree relatives | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Eye Disease, Natural History