Among the more common visually threatening congenital eye defects are anophthalmia (total absence of the globe); microphthalmia (anomalously small eye in the orbit); and coloboma (failure of the closure of the fetal fissure) – collectively referred to as MAC. There have been few if any population-based studies to:
- Describe the proportion of cases due to pathogenic variants in known MAC-related genes.
- Systematically characterize co-occurring phenotypes in these individuals (herein termed “deep phenotyping”), which could provide insights into the underlying etiologies of these conditions and inform precision medicine efforts.
Therefore, objectives of the current study are to
- Better define the MAC phenotype.
- Characterize the role of known and potentially novel pathogenic genetic variants that confer MAC susceptibility.
As part of this, we will utilize the resources of the National Institutes of Health (NIH) Clinical Center to comprehensively phenotype cases with MAC, as well as the National Eye Institute (NEI) Ophthalmic Genomics Laboratory and Human Genome Sequencing Center at Baylor College of Medicine to identify genetic variants underlying MAC phenotypes.
For study related questions contact the EpiCenter study team at 713-798-2920 or firstname.lastname@example.org.