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.
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.
|Condition or disease
|First Submitted Date||August 23, 2006|
|Last Update Posted Date||February 22, 2018|
|Start Date||July 28, 2006|
|Completion Date||April 15, 2013|
|Primary Completion Date||N/A|
|Results First Submitted Date||N/A|
|Received Results Disposit Date||N/A|
Current Primary Outcome Measures
Original Primary Outcome Measures
Current Secondary Outcome Measures
Original Secondary Outcome Measures
|Brief Title||Family Studies of Uveal Coloboma|
|Official Title||Family Studies of Uveal Coloboma|
|Target Follow-Up Duration|| N/A|
|Completion Date||April 15, 2013|
- 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
|Age|| N/A to 100 Years|
|Accepts Healthy Volunteers||No|
|Listed Location Countries
|Other Study ID Numbers
|Has Data Monitoring Committee||No|
|U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Device Product Not Approved or Cleared by U.S. FDA: No
|IPD Sharing Statement
Brian P Brooks, M.D.
National Eye Institute (NEI)