This study will evaluate potential candidates for future clinical research studies related
to diagnosed or undiagnosed genetic eye disorders or diseases. It will not test any new
treatments, but it may arrange for standard treatments for existing eye disorders. The
purpose of the study is to train eye doctors and medical researchers at the National
Institutes of Health in appropriate methods and procedures for treating patients with
genetic eye diseases, and to expand the pool of possible participants for future research
studies and trials on eye health.
Volunteers for this study may be adults and minor children who have been diagnosed with or
are at risk for having a genetic eye disease. Candidates may not have any other medical
conditions that would interfere with the researchers' ability to perform the examinations
and procedures required for this study.
Participants will give a complete medical and family history and undergo a series of tests
and procedures as part of this research study. The procedures include a full eye examination
and vision testing, electrooculography and an electroretinogram to examine the function of
the retina, and flourescein angiography to provide information on the flow of blood in the
participant's eyes. Participants will provide research material for further studies by
giving a blood sample to be held for genetic testing and analysis, and adult participants
will also undergo a skin biopsy to provide cell tissue for additional research material. At
each clinic visit, participants will receive treatment for their genetic eye disease as
needed, including medications or surgical procedures. Participants may remain a part of this
study for up to three years.
The National Eye Institute is conducting a study to evaluate participants with either
diagnosed or undiagnosed genetic conditions who may be eligible and wish to participate in
other NEI clinical research studies. The primary purpose of this evaluation and treatment
protocol is to provide a resource of patients for specific new research protocols and for
staff and fellowship training. A secondary purpose is to provide long-term follow-up and
treatment for a variety of genetic eye diseases so that the genetic specialists at NEI will
be better able to identify research hypotheses for these diseases, which may lead to ideas
for future protocols. Finally, the ability to provide long-term follow-up and care will also
facilitate referral efforts for new NEI protocols. As a by-product of this research
activity, the participants will help the investigators to maintain their clinical skills.
- INCLUSION CRITERIA
Subjects will be able to enroll if they:
- Have either a diagnosed or undiagnosed genetic eye disease.
- Have the ability to understand and sign an informed consent or have a parent/legal
guardian who is able to do so for them.
Subjects will not be eligible if they:
- Are unwilling or unable to be followed and treated at the NEI Clinical Center.
- Have any systemic diseases that compromise the ability to provide adequate
ophthalmologic examination or treatment.