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

NCT01778543 | Recruiting

• 2 other identifiers: 13004913-EI-0049
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Repository; Natural History; Genetics

Outcome Measures

Primary Outcomes (1)

• The tests, data, and samples collected will be analyzed to better understand the genetics of MAC.

  The tests, data, and samples collected will be analyzed to better understand the genetics of MAC.

  end of study

Study Arms (1)

MAC

Participants with MAC and their family members.

Eligibility Criteria

• Age: 1 Year - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be ascertained through other pre-existing protocols, such as the NEI Ocular Natural History protocol (16-EI-0134), the NEI Screening protocol (08-EI-0102), through another similar, existing protocol or through referral from an outside clinician after a review of pertinent medical records. Six hundred (600) participants of at least one year of age with documented MAC and their relatives will be enrolled. A subset of approximately 100 participants who are eligible and interested will be referred to enroll in this study from the MAGIC Study at Baylor College of Medicine.

You may qualify if:

• The participant must be one year of age or older.
• The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report.
• The participant must be able to provide a blood, buccal/saliva, or DNA sample.
• The participant must be able to understand and sign this protocol s informed consent form OR have a legal parent/guardian/representative with the ability to do the same.
• The participant must either:
• a. be affected by MAC(i) OR
• b. be an asymptomatic relative of an affected individual.
• (i) Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation co-segregating with MAC, or a rare or unique kidney finding).

You may not qualify if:

• Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and/or a legal parent/guardian/representative 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.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Coloboma; Anophthalmos; Microphthalmos

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Eye Diseases, Hereditary; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Brian P Brooks, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Daniel W Claus, R.N.

CONTACT

(301) 451-1621; daniel.claus@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2013
• First Posted: January 29, 2013
• Study Start: January 8, 2013
• Primary Completion (Estimated): December 27, 2027
• Last Updated: March 13, 2026

Record last verified: 2025-09-30

Locations

US (1)