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
Researchers are studying the genetics behind a group of eye conditions called microphthalmia, anophthalmia, and uveal coloboma (MAC), which are developmental problems where the eye does not form properly. These conditions can lead to various eye issues including blindness. The study aims to understand the eye and other body-related features in people with MAC, identify risk factors in their relatives, and create a collection of DNA samples for future research. Participants include individuals aged one year or older who either have MAC or are close relatives without symptoms, such as parents or siblings. The study involves a full eye exam and physical exam appropriate to the participant's age. Those with MAC may also have additional tests like imaging and hearing assessments. All participants will provide samples of blood, cheek swab, saliva, or DNA for genetic testing. During the study, participants will undergo thorough medical and eye exams, have their medical history reviewed, and provide biological samples. Researchers will analyze the data and samples collected to better understand the genetics and associations of MAC. The study will enroll up to 600 participants over fifteen years, with ongoing analysis of test results to improve knowledge of these eye conditions.
CONDITIONS
Brief Title
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must be at least 1 year old.
- Must be able to cooperate with an age-appropriate eye exam or provide a recent complete eye exam report.
- Must be able to provide blood, buccal/saliva, or DNA samples.
- Must understand and sign the informed consent form or have a legal guardian who can do so.
- Must either have MAC or be an unaffected relative such as a parent or sibling.
- Affected participants must have a clear eye condition related to MAC or other clinical signs linked to MAC.
You will not qualify if you...
- Female participants who are pregnant are not eligible.
- Participants who are employees, subordinates, or coworkers of the National Eye Institute investigators are excluded.
- Non-NEI NIH employees may participate.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - One-time assessment
Participants undergo a complete age-appropriate eye and physical examination and provide biological samples for genetic and clinical analysis.
1 visit (in-person)
Duration - Up to 15 years
Participants are followed over time to observe ocular, systemic, and genetic associations related to MAC.
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.
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
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