Study of Genes and Eye Conditions in Microphthalmia, Anophthalmia, and Uveal Coloboma MAC Including Affected Individuals and Their Families

What this Trial Is About

Researchers are studying the genetics of microphthalmia, anophthalmia, and uveal coloboma MAC, conditions where the eye does not form normally and can lead to vision problems or blindness. This study aims to understand the eye and systemic features seen in people with MAC, identify risk factors in their relatives, and create a repository of genetic material for future research. Approximately 600 participants aged one year and older, including those affected by MAC and their close unaffected relatives, will take part over about fifteen years. Participants will undergo a full eye exam appropriate for their age, a physical exam, and provide medical history. Those with MAC may have additional tests like imaging and hearing assessments. All participants will provide blood, cheek swab, saliva, or DNA samples for genetic analysis. Some participants may be referred from a related genetic epidemiology study. During the study, participants will be evaluated with eye and physical exams, and provide samples for genetic testing. Researchers will analyze tests, data, and samples to better understand the genetics and associated features of MAC. The study is observational and does not involve treatment. Participation may last many years as data is collected to investigate genetic causes and related risk factors.

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