Protocol Number: 04-EI-0039

Title:

Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases

Number:

04-EI-0039

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.

Sponsoring Institute:

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

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.

Special Instructions:

Currently Not Provided

Keywords:

Strabismus

Cataract, Pediatric

Optic Nerve Anomaly

Coloboma

Evaluation and Treatment

Pediatric Ophthalmology

Genetic Eye Disease

Nystagmus

Recruitment Keyword(s):

Pediatric Eye Disease

Genetic Eye Disease

Developmental Eye Condition

Strabismus

Cataract

Juvenile Glaucoma

Eye Movement Disorder

Condition(s):

Eye Diseases

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Eye Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Tang J, Gokhale PA, Brooks SE, Blain D, Brooks BP. Increased corneal thickness in patients with ocular coloboma. J AAPOS. 2006 Apr;10(2):175-7. No abstract available.

Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol. 2006 Oct;17(5):447-470.

Brooks BP, Meck JM, Haddad BR, Bendavid C, Blain D, Toretsky JA. Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature. BMC Med Genet. 2006 Jan 13;7:2. Review.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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