Protocol Details

Family Studies of Uveal Coloboma

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	06-EI-0230
Sponsoring Institute	National Eye Institute (NEI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 0 Max Age: 100
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Coloboma; Genetics; Optic Nerve Coloboma; Chorioretinal Coloboma; Iris Coloboma
Recruitment Keyword(s)	Coloboma; Uveal Coloboma
Condition(s)	Coloboma
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Eye Institute

This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder.

Adults and children who have more than one member of the family with uveal coloboma may be eligible for this study. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated.

To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission.

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Eligibility

This study will enroll 120 adult and children members of families where more than one individual is reported to have coloboma. Affected and unaffected family members will be both enrolled.

INCLUSION CRITERIA:

1. The participant must have any recognizeable form of inherited coloboma.

2. The participant must be a genetically informative member of a family where more than one person is affected by typical uveal coloboma.

3. The participant must be able to comply with the protocol and provide a blood sample.

EXCLUSION CRITERIA:

1. The participant has any syndromic form of coloboma likely due to mutations in a known gene.

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Citations:

Maumenee IH, Mitchell TN. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123-32; discussion 133-5.

Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. Am J Med Genet. 1997 Oct 17;72(2):227-36.

Zlotogora J, Legum C, Raz J, Merin S, BenEzra D. Autosomal recessive colobomatous microphthalmia. Am J Med Genet. 1994 Feb 1;49(3):261-2.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Brian P. Brooks, M.D. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N226 10 Center Drive Bethesda, Maryland 20892 (301) 435-3032 BrooksB@mail.nih.gov	Delphine Blain, M.D. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N226 10 Center Drive Bethesda, Maryland 20892 (301) 496-1410 dblain@mail.nih.gov	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 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00359606

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