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Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)

NCT01778543 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2026-04-03

No results posted yet for this study

Summary

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

  • Coloboma
  • Anophthalmia
  • Microphthalmia

Sponsors & Collaborators

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • Brian P Brooks, M.D. · National Eye Institute (NEI)

Eligibility

Min Age
1 Year
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-01-08
Primary Completion
2027-12-27

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01778543 on ClinicalTrials.gov