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

Description

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

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Coloboma
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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.
  • * 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.

Ages Eligible for Study

1 Year to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

National Eye Institute (NEI),

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

Study Record Dates

N/A