Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
Recruiting now
Conditions studied: Coloboma, Anophthalmia, Microphthalmia
In brief
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. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings). Objectives: \- To study the genes associated with MAC. Eligibility: \- Individuals at least 1 years of age who either have MAC 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 MAC 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.
Key facts
- Study ID
- NCT01778543
- Run by
- National Eye Institute (NEI)
- People needed
- 600
- Starts
- 2013-01-08
- Last updated by the study team
- 2026-08-07
Who can join
Age: 1 and older, up to 100. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and/or a LAR may reach out regarding participation in the study.
- Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study; however, non-NEI NIH employees may enroll in the study.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
Full record on ClinicalTrials.gov
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