Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
Baylor College of Medicine
Summary
The investigators are inviting families to take part in a research study that will help us better understand the physical characteristics associated with children who have Microphthalmia, Anophthalmia, and Coloboma (MAC) and how changes in their DNA sequence, called genetic mutations, play a role in the risk of developing MAC
Description
This study is focused on gathering data on individuals diagnosed with some of the more common visually threatening congenital eye defects collectively referred to as MAC complex; anophthalmia (total absence of the globe), microphthalmia (anomalously small eye in the orbit), and coloboma (failure of the closure of the fetal fissure). Our long-term goal is to improve prevention efforts for and clinical management of MAC. The objectives of the current study are to 1) better define the MAC phenotype and 2) characterize the role of known and newly identified pathogenic genetic variants that confer…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: 1. All MAC cases 2. Parents of the above children. 3. Siblings of the above children. 4. English or Spanish speaking. Exclusion Criteria: All subjects who do not meet the inclusion criteria listed above.
Location
- Baylor College of MedicineHouston, Texas