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