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Family Studies of Uveal Coloboma

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: NCT00368004
Recruitment Status : Terminated
First Posted : August 24, 2006
Last Update Posted : April 22, 2019
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

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.

Condition or disease

Detailed Description:

Objective: To describe phenotypes and find genes causing a developmental and potentially blinding eye condition, uveal coloboma.

Study population: Families where more than one family member has uveal coloboma. Both affected and genetically informative, unaffected members of the family will be recruited.

Design: Observational study.

Outcome measures: Clinical examination, genetic mapping and mutation identification.

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Study Type : Observational
Actual Enrollment : 100 participants
Official Title: Family Studies of Uveal Coloboma
Study Start Date : July 28, 2006
Study Completion Date : April 15, 2013

Resource links provided by the National Library of Medicine

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:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • 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.


  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.


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

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): NCT00368004

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Eye Institute (NEI)
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Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)

Layout table for additonal information Identifier: NCT00368004     History of Changes
Other Study ID Numbers: 060230
First Posted: August 24, 2006    Key Record Dates
Last Update Posted: April 22, 2019
Last Verified: April 15, 2013

Keywords provided by National Institutes of Health Clinical Center (CC):
Optic Nerve Coloboma
Chorioretinal Coloboma
Iris Coloboma
Uveal Coloboma

Additional relevant MeSH terms:
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Eye Abnormalities
Eye Diseases
Eye Diseases, Hereditary
Congenital Abnormalities