This screening protocol is designed to help recruit patients for National Eye Institute
(NEI) studies on inherited eye diseases. Patients must meet specific requirements of a
research study, and this protocol serves as a first step for admitting patients to an
Candidates will undergo a medical history, physical examination, eye examination and blood
test. The eye examination includes measurement of eye pressure and dilation of the pupils to
fully examine the lens, vitreous and retina. Specialized tests will be done only if needed
to determine eligibility for a specific study in NEI's Ophthalmic Genetics Clinic. These
include routine laboratory tests, non-invasive imaging, questionnaires and other standard
tests, as well as specialized tests and procedures where needed, including genetic testing.
Photographs of the eye may be taken. Patients will be asked questions about family history,
especially relating to eye disease or cataracts, and a family tree will be drawn. A blood
sample will also be drawn.
When the screening is completed, patients will be informed of their options to participate
in a study. Patients who are ineligible for a current study will be informed of alternative
treatments or options. No treatment is offered under this protocol.
This protocol is designed for the screening of patients with either diagnosed or undiagnosed
conditions, and serves as a first step for individuals who may be eligible, and wish to
participate in NEI clinical research studies.
Each individual will be thoroughly evaluated during the screening process to determine if
they are suitable candidates for inclusion in any of the NEI ongoing studies. The screening
evaluation will include past and current medical histories, and an appropriate physical
examination. Other routine diagnostic procedures and tests may also be completed in order to
help determine a subject's eligibility. These tests and procedures are of minimal risk and
will be described in more detail in section III: "Study Procedures". Once the screening
process is completed and their eligibility is assessed, the subjects will be informed of
their options to participate in one or more of the current clinical research studies. If no
appropriate protocol is identified, recommendations for other treatment options may be given
to the individual, their primary doctor, or referring physician.
- INCLUSION CRITERIA:
Inclusion and exclusion criteria vary with the particular protocol for which a patient is
being screened. in addition to those diagnoses currently under study, subjects with
unusual, interesting, or unknown conditions that require the establishment of a diagnosis,
may be eligible for inclusion in this study.
The subjects source for this study will be from referrals by medical practitioners in the
private sector, clinics, hospitals, medical institutions, and the Occupational Medical
Services at the National Institutes of Health