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

Study Overview
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Brief Summary
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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. Several genes have been linked to coloboma, but the cause of most cases is hard to find. Researchers want to study the genes of people who have coloboma and genes from their close, unaffected relatives (such as parents and siblings). Objectives: - To study the genes associated with uveal coloboma. Eligibility: - Individuals at least 1 years of age who either have uveal coloboma 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 uveal coloboma 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.

Detailed Description
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Objective: The objectives of this study are to: 1) define ocular, systemic and other associations in a cohort of well-phenotyped participants with microphthalmia, anophthalmia and/or uveal coloboma (MAC); 2) define risk factors and microforms of MAC in relatives of affected individuals; and 3) establish a repository of DNA and/or lymphoblastoid cell lines from participants for use in laboratory investigations. Study Population: Six hundred (600) individuals 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 Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children (MAGIC Study) at Baylor University (Baylor Protocol # H-49046). Design: This is a natural history/genetic repository study. Six hundred (600) participants will be enrolled over fifteen years. Participants will undergo a complete age-appropriate baseline eye examination and physical examination and provide a blood, buccal cell/saliva, or DNA sample. Outcome Measures: The tests, data and samples collected will be analyzed to better understand the genetics of MAC. In particular, ocular and systemic associations will be defined in a cohort of well-phenotyped participants with MAC, as will the risk factors and microforms of these disorders in relatives of affected individuals.

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

Conditions
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Coloboma

Participation Criteria
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Eligibility Criteria
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INCLUSION 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: be affected by MAC(i) OR 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 cosegregating with MAC, or a rare or unique kidney finding). EXCLUSION CRITERIA: Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study.

Ages Eligible for Study
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Minimum Age: 1 Year

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Coloboma<br>Participants with Coloboma and their family members. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. | The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. | end of study | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetics, Repository, Advanced Retinal Disease, Natural History