View clinical trials related to Coloboma.
Filter by:The investigators are inviting families to take part in a research study that will help us better understand the physical characteristics associated with children who have Microphthalmia, Anophthalmia, and Coloboma (MAC) and how changes in their DNA sequence, called genetic mutations, play a role in the risk of developing MAC
The majority of young children do not think that visual field (VF) testing of peripheral vision is similar to a game; therefore, it is not surprising that they have difficulty maintaining attention during VF testing and thus the test reliability suffers as a consequence. Poor VF reliability has been a longstanding, major issue since it leads to an increased number of tests and/or longer duration of time needed to determine when there are true vision losses. Providers are less likely to obtain VF tests in children since the results are of doubtful value and challenging to interpret when they are inconsistent. Effectively this means that children with untreated, slowly progressive eye diseases may go undiagnosed and incur greater visual losses. The investigators aim to create a prototype device that the investigators hypothesize will make VF testing more engaging for young children, thus increasing their attention and consistency of their responses to the test stimuli, which in turn should improve VF reliability. The components include a microdisplay video screen (1.5" diameter) as the fixation target (instead of the standard LED light) displaying video clips of popular cartoon characters, and audio clips of impersonated cartoon character voices presented by the test operator to provide instructional feedback based on the child's performance during testing. Improved VF reliability from the investigators intervention would translate to improved diagnosis and care for young childrens' peripheral vision loss through widespread implementation of the investigators innovative, affordable and readily adoptable system at eye care providers' offices.
Background: - 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). Objectives: - To study the genes associated with uveal coloboma. Eligibility: - Individuals at least 1 years of age who either have uveal coloboma or are an unaffected relative (such as a parent or sibling). Design: - 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, cheek swab or saliva or DNA samples for genetic testing.