Genetics of Uveal Coloboma
- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus's development during pregnancy. It can lead to different kinds of eye problems, including blindness. Several genes have been linked to coloboma, but the cause of most cases is hard to find. Researchers want to study the genes of people who have coloboma and genes from their close, unaffected relatives (such as parents and siblings).
- To study the genes associated with uveal coloboma.
- Individuals at least 1 years of age who either have uveal coloboma or are an unaffected relative (such as a parent or sibling).
- Participants will have a physical exam and medical history. They will also have a full eye exam.
- Participants with uveal coloboma may have other exams, such as imaging studies and hearing assessments.
- All participants will also provide blood and cheek swab or saliva samples for genetic testing.
|Study Design:||Time Perspective: Prospective|
|Official Title:||Genetics of Uveal Coloboma|
- The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. [ Time Frame: 3 years and end of study ]
|Study Start Date:||December 2012|
|Estimated Study Completion Date:||December 2016|
|Estimated Primary Completion Date:||December 2016 (Final data collection date for primary outcome measure)|
The objectives of this study are to 1) define ocular and systemic associations in a cohort of well-phenotyped participants with uveal coloboma, 2) define risk factors and microforms of coloboma in relatives of affected individuals and 3) establish a repository of DNA and/or lymphoblastoid cell lines from participants with uveal coloboma and their relatives for use in laboratory investigations.
Two hundred and forty (240) individuals of at least one year of age with documented uveal coloboma and their relatives will be enrolled.
This is a natural history/genetic repository study. Two hundred and forty (240) participants will be enrolled over four years. Participants will undergo a complete age-appropriate baseline eye examination and physical examination and provide a blood or buccal cell sample.
The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. In particular, ocular and systemic associations will be defined in a cohort of well-phenotyped participants with uveal coloboma, as will the risk factors and microforms of coloboma in relatives of affected individuals.
|Contact: Delphine Blain, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Brian P Brooks, M.D.||National Eye Institute (NEI)|