This study will allow National Eye Institute (NEI) doctors the opportunity to examine people
with eye disease, whether the diagnosis is known or not, to determine if they are eligible
for other NEI research studies. No treatment is offered in this study.
People of all ages with various eye conditions, including genetic conditions, eye movement
disorders, inflammatory eye diseases, retinal diseases and external eye diseases, may be
eligible for this study.
Participants undergo various tests and procedures to diagnose or evaluate their eye disease.
The procedures may include the following:
- Personal and family medical history
- Physical examination and blood tests, including genetic testing.
- Eye examination with dilation to measure visual acuity and eye pressure and to examine
the front and back parts of the eye.
- Questionnaire about vision and daily activities.
- Conjunctival swab or lacrimal bland biopsy, or both: A sample of cells from the eyes is
collected by swabbing the surface of the eye or by surgically removing a small sample of
the surface of the eye or tear gland.
- Electroretinogram to examine retinal function: The subject sits in the dark with his or
her eyes patched for 30 minutes. The patches are removed, the surface of the eyes is
numbed, and contact lenses that can sense signals from the retina are placed on the
eyes. The subject then watches flashing lights.
- Fluorescein angiography to examine the blood vessels in the eye: A dye is injected into
a vein in the arm. The dye travels through the veins to the blood vessels in the eyes. A
camera takes pictures of the dye as it flows through the blood vessels.
- Optical coherence tomography to measure retinal thickness: A machine used to examine the
eyes produces cross-sectional pictures of the retina.
- Microperimetry to test how sensitive different parts of the retina are to changing
levels of light. The subject sits in front of a computer and presses a button when he or
she sees a light on the screen.
- Oculography to record eye movements: Eye movements are measured by contact lenses or
goggles that the subject wears while watching a series of spots on a computer screen.
This protocol is designed for the screening of potential research participants with either a
diagnosed or undiagnosed ocular condition. Participants without any evidence of an ocular
condition can also be screened using this protocol. This protocol serves as a point of entry
for individuals who may be eligible and wish to participate in the National Eye Institute
(NEI) clinical research studies. Participants will be carefully evaluated during the
screening process to determine whether they are suitable candidates for inclusion in any of
the ongoing NEI research studies. The screening process will include past and current medical
history and, as appropriate, a physical examination. Other routine diagnostic procedures and
tests may also be conducted in order to help determine a participant s eligibility. These
tests and procedures have minimal risks associated with them. Once the screening process is
complete and eligibility is determined, participants will be informed of their options to
participate in one or more of the NEI s current clinical research protocols. If no suitable
research protocol for their participation is identified, recommendations for other treatment
options may be given to the individual, their primary provider or referring physician.
- INCLUSION CRITERIA:
Participants will be able to enroll if they:
- Have a diagnosed ocular disease/disorder; OR
- Potentially have an unusual, interesting, or unknown ocular condition that requires
the establishment of a diagnosis; OR
- Potentially participate as a disease-free control participant in an NEI clinical
research study; OR
- Are an unaffected first-degree relative of a participant with either a diagnosed or
undiagnosed ocular disorder; AND
- Have the ability to understand and sign an informed consent OR if they are minor
children, have a legal parent/guardian with the ability to do the same.
Participants will be unable to enroll if they:
-Are unwilling or unable to cooperate with the study procedures.