Study of Genetic and Physical Features in Children with Microphthalmia, Anophthalmia, and Coloboma and Their Families

What this Trial Is About

Researchers are studying children diagnosed with Microphthalmia, Anophthalmia, and Coloboma MAC, which are congenital eye defects affecting eye size and structure. The study aims to understand the physical traits of these conditions and how genetic changes contribute to the risk of developing MAC. The overall goal is to improve prevention and clinical care for affected children. Participants include children diagnosed with MAC, their parents, and siblings. The study collects detailed physical and genetic information by collaborating with various registries and hospitals. Researchers use resources from newborn screening programs and specialized NIH centers to identify and analyze genetic variants linked to MAC. Families involved in the study will provide data through medical evaluations and genetic testing. The research team will review physical characteristics and genetic information to better define MAC and its genetic causes. This observational study is ongoing, and participants may be followed until the study ends in 2032, with no interventions or treatments required.

Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children