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Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00076271
Recruitment Status : Completed
First Posted : January 19, 2004
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

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.

Condition or disease
Eye Diseases

Detailed Description:

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.

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Study Type : Observational
Enrollment : 350 participants
Official Title: Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases
Study Start Date : January 14, 2004
Study Completion Date : October 28, 2008

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Eye Diseases

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.


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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00076271

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United States, Colorado
Rocky Mountain Lions Eye Institute
Denver, Colorado, United States
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Eye Institute (NEI)

Layout table for additonal information Identifier: NCT00076271     History of Changes
Other Study ID Numbers: 040039
First Posted: January 19, 2004    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: October 28, 2008
Keywords provided by National Institutes of Health Clinical Center (CC):
Cataract, Pediatric
Optic Nerve Anomaly
Evaluation and Treatment
Pediatric Ophthalmology
Genetic Eye Disease
Pediatric Eye Disease
Developmental Eye Condition
Juvenile Glaucoma
Eye Movement Disorder
Additional relevant MeSH terms:
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Eye Diseases