Evaluation and Treatment of Patients With Inherited Eye Diseases

NCT00011817 | Completed

• 2 other identifiers: 01010201-EI-0102
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

This study offers evaluation and treatment for patients with inherited (genetic) eye diseases. The protocol is not designed to test new treatments; rather, patients will receive current standard of care treatments. The purpose of the study is twofold: 1) to allow National Eye (NEI) Institute physicians to increase their knowledge of various genetic eye diseases, identify possible new avenues of research in this area, and maintain their clinical skills; and 2) to establish a pool of patients who may be eligible for new studies as they are developed. (Participants in this protocol will not be required to join a new study; the decision will be voluntary.) Children and adults with genetic eye diseases may be eligible for this study. Candidates will be screened with a medical and family history, thorough eye examination and blood test. The eye examination includes measurements of eye pressure and visual acuity (ability to see the vision chart) and dilation of the pupils with eye drops to examine the lens and retina (back part of the eye). Patients may also undergo additional diagnostic tests needed to determine eligibility for other NEI studies, including routine laboratory testing, imaging, questionnaires, a physical examination, and other standard and specialized tests and procedures as needed. In addition, patients will have special photographs taken of the eye to document the clarity or opacity of the eye lens. They will also undergo a procedure called electroretinography to assess the eye's response to bright lights. For this procedure, the eye is numbed with anesthetic drops and a contact lens is placed in the eye. The patient looks inside a large, hollow sphere and sees flashes of light, first in darkness and then in light. The contact lenses sense small electrical signals generated by the retina. Patients who need medical care will be given appropriate standard medical treatment. Those who are found eligible for a research study will be recommended for participation in that study and taken off this one. Participants will be followed at least 3 years. Follow-up visits are scheduled according to the standard of care for the individual patient's eye problem. Patients in this protocol will probably have 1 to 3 follow-up visits per year.

Conditions

Hereditary Eye Disease

Keywords

Evaluation and Treatment; Ophthalmic Genetic Diseases; Genetic Testing; Genetic Eye Diseases; Evaluation

Eligibility Criteria

• Age: 6 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients are initially screened for NEI protocols under the NEI screening protocol or from closeout of another protocol. Some of these patients will have a genetic eye disease that NEI staff wishes to follow and treat. Such patients can then be enrolled in this evaluation and treatment protocol. Each study participant must have the ability to understand and sign an informed consent form.

You may not qualify if:

• Patients will be excluded from this study if they are unable or unwilling to give informed consent or they are unwilling to be followed and treated at the NEI clinical center for at least the next 3 years.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

Eye Diseases, Hereditary

Condition Hierarchy (Ancestors)

Eye Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: February 28, 2001
• First Posted: March 1, 2001
• Study Start: February 21, 2001
• Study Completion: March 31, 2007
• Last Updated: July 2, 2017

Record last verified: 2007-03-31

Locations

US (1)