Actively Recruiting
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
Led by National Eye Institute (NEI) · Updated on 2026-04-03
600
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant must be 1 year of age or older.
- Participant must be able to cooperate with an age-appropriate eye exam or provide a copy of a complete eye exam report.
- Participant must be able to provide a blood, buccal/saliva, or DNA sample.
- Participant must be able to understand and sign informed consent or have a legal guardian who can.
- Participant must either have MAC with a clear ocular phenotype or be an asymptomatic relative of an affected individual.
- Participants affected by MAC may also be identified by other clinical signs related to MAC, such as unique systemic or kidney findings.
You will not qualify if you...
- Female participants who are pregnant are not eligible.
- Participants who are employees, subordinates, or co-workers of an investigator at NEI are excluded.
- Non-NEI NIH employees may participate.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Daniel W Claus, R.N.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here