Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases
| Status: | Completed |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | January 2004 |
| End Date: | October 2008 |
Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases
This study will evaluate and treat children or adults with inherited or developmental eye
conditions. It will allow specialists in pediatric ophthalmology, genetic ophthalmology, and
ocular motility at the National Eye Institute (NEI) to learn more about the course of
various pediatric, genetic, developmental, and eye movement diseases thorough long-term
observation and treatment. It will also serve as the first step in determining the
eligibility of patients who may wish to enroll in other NEI clinical research studies or
undergo standard eye treatments.
Children with eye conditions, especially inherited or developmental conditions, and adults
with eye disorders that began in childhood or that likely have a genetic or developmental
component may be eligible for this study. Participants will undergo some or all of the
following procedures:
- Medical history, including family history.
- Physical examination and possibly routine blood tests, x-rays tests, standard eye
movement recordings, questionnaires, and specialized procedures when needed.
- Complete eye examination, including vision test, visual perception, eye pressure (if
possible), dilation of the pupils to examine the back of the eye (lens, vitreous, and
retina).
- Photographs of the eyes.
- Oculography (eye movement recordings) in patients for whom testing will aid in
diagnosis. This test is done either with goggles placed over the eyes or with a contact
lens placed on each eye. When the goggles or lenses are in place, the subject looks at
a series of red targets on a computer screen.
- Electroretinography (ERG) in patients with suspected retinal degeneration. This is a
test of the electrical function of the eyes. Before the test, patients sit in a dark
room for 30 minutes with their eyes patched. A small electrode (silver disk) is taped
to their forehead. The eye patches are then removed, the eyes are numbed with drops,
and contact lenses are placed in the eyes. The contact lenses sense small electrical
signals generated by the retina when lights flash. During the ERG recording, the
patient looks inside a large empty bowl. A light flashes, first in the dark and then
with a light turned on inside the bowl. The test takes 1 hour or less.
Participants are followed up to 6 times a year for 3 years, depending on the diagnosis and
treatment.
conditions. It will allow specialists in pediatric ophthalmology, genetic ophthalmology, and
ocular motility at the National Eye Institute (NEI) to learn more about the course of
various pediatric, genetic, developmental, and eye movement diseases thorough long-term
observation and treatment. It will also serve as the first step in determining the
eligibility of patients who may wish to enroll in other NEI clinical research studies or
undergo standard eye treatments.
Children with eye conditions, especially inherited or developmental conditions, and adults
with eye disorders that began in childhood or that likely have a genetic or developmental
component may be eligible for this study. Participants will undergo some or all of the
following procedures:
- Medical history, including family history.
- Physical examination and possibly routine blood tests, x-rays tests, standard eye
movement recordings, questionnaires, and specialized procedures when needed.
- Complete eye examination, including vision test, visual perception, eye pressure (if
possible), dilation of the pupils to examine the back of the eye (lens, vitreous, and
retina).
- Photographs of the eyes.
- Oculography (eye movement recordings) in patients for whom testing will aid in
diagnosis. This test is done either with goggles placed over the eyes or with a contact
lens placed on each eye. When the goggles or lenses are in place, the subject looks at
a series of red targets on a computer screen.
- Electroretinography (ERG) in patients with suspected retinal degeneration. This is a
test of the electrical function of the eyes. Before the test, patients sit in a dark
room for 30 minutes with their eyes patched. A small electrode (silver disk) is taped
to their forehead. The eye patches are then removed, the eyes are numbed with drops,
and contact lenses are placed in the eyes. The contact lenses sense small electrical
signals generated by the retina when lights flash. During the ERG recording, the
patient looks inside a large empty bowl. A light flashes, first in the dark and then
with a light turned on inside the bowl. The test takes 1 hour or less.
Participants are followed up to 6 times a year for 3 years, depending on the diagnosis and
treatment.
The purpose of this protocol is to allow the pediatric ophthalmology, genetic ophthalmology,
and ocular motility specialists at the National Eye Institute to gain additional knowledge
of the course of various pediatric, genetic, developmental and ocular motility diseases.
Heretofore, this spectrum of diseases will be referred to as pediatric ophthalmology
diseases. We wish to evaluate the effects of standard treatments for these diseases, use
non- or minimally-invasive technologies to understand the pathogenesis of these diseases,
and to collect blood or other easily obtained biologic sample (e.g., urine, saliva, hair,
cheek swab, or stool) for future laboratory studies on these diseases. The information
gained from this protocol will also allow for the maintenance of populations of patients
with specific pediatric eye diseases and strabismus that may be eligible for future
protocols. In addition, by allowing for the care of patients with a spectrum of these
diseases, the protocol will be valuable for the training of pediatric eye disease, ocular
genetics, and ocular motility fellows. The pediatric, genetic, and eye movement specialists
at the National Eye Institute will choose ophthalmology diseases based on the training and
research needs of the NEI program. While the primary focus of this protocol is to study eye
disease in children, adults who have a disease that began in childhood or who may have an
inherited eye disease or are unaffected first-degree relatives may also be evaluated under
this protocol.
This protocol is not designed to test any new treatments. Any evaluation of treatments under
this protocol will be based on the standard-of-care for each patient's disease. All
alternatives for evaluation and care will be reviewed with each patient and the patient's
family.
Patients in this evaluation and treatment protocol will be evaluated for potential
eligibility in any new NEI clinical trials or epidemiological protocols as they are
developed. If eligible, patients may be asked to participate in a new protocol. However,
they will not be required to enter any new protocol and their decision to participate will
be entirely voluntary.
and ocular motility specialists at the National Eye Institute to gain additional knowledge
of the course of various pediatric, genetic, developmental and ocular motility diseases.
Heretofore, this spectrum of diseases will be referred to as pediatric ophthalmology
diseases. We wish to evaluate the effects of standard treatments for these diseases, use
non- or minimally-invasive technologies to understand the pathogenesis of these diseases,
and to collect blood or other easily obtained biologic sample (e.g., urine, saliva, hair,
cheek swab, or stool) for future laboratory studies on these diseases. The information
gained from this protocol will also allow for the maintenance of populations of patients
with specific pediatric eye diseases and strabismus that may be eligible for future
protocols. In addition, by allowing for the care of patients with a spectrum of these
diseases, the protocol will be valuable for the training of pediatric eye disease, ocular
genetics, and ocular motility fellows. The pediatric, genetic, and eye movement specialists
at the National Eye Institute will choose ophthalmology diseases based on the training and
research needs of the NEI program. While the primary focus of this protocol is to study eye
disease in children, adults who have a disease that began in childhood or who may have an
inherited eye disease or are unaffected first-degree relatives may also be evaluated under
this protocol.
This protocol is not designed to test any new treatments. Any evaluation of treatments under
this protocol will be based on the standard-of-care for each patient's disease. All
alternatives for evaluation and care will be reviewed with each patient and the patient's
family.
Patients in this evaluation and treatment protocol will be evaluated for potential
eligibility in any new NEI clinical trials or epidemiological protocols as they are
developed. If eligible, patients may be asked to participate in a new protocol. However,
they will not be required to enter any new protocol and their decision to participate will
be entirely voluntary.
- INCLUSION CRITERIA:
Subjects will be able to enroll if they:
1. Are a pediatric patient, of any age, with ophthalmic conditions, especially inherited
or developmental conditions, OR
2. Are an adult patient with an eye disorder that began in childhood or that is likely
to have a genetic/developmental component, OR
3. Are an unaffected first-degree relative that we believe that will aid in our
diagnosis or future research objectives, AND
4. Have the ability to understand and sign an informed consent OR have a legal
parent/guardian with the ability to do the same.
EXCLUSION CRITERIA:
Subjects will not be eligible if they:
1. Are unable to follow-up as clinically indicated.
2. Have a severe systemic disease that compromises our ability to provide adequate
examination and/or treatment.
We found this trial at
2
sites
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9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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