Background: Uveal coloboma is a congenital eye malformation. It is thought to be a genetic condition. But it might have environmental causes as well. Researchers want to study the mothers of children with coloboma. They will use parts of the National Birth Defects Prevention Study (NBDPS) Mother Questionnaire. NBDPS was a large study of birth defects. It collected data from 1997 to 2011. Researchers will use NBDPS and NIH data as well as the new survey to produce data that can serve as a basis for further study. Objective: To explore maternal factors and exposures during the first trimester of pregnancy as potential causes of uveal coloboma and to correlate exposure data to clinical data from affected children. Eligibility: Mothers of probands with coloboma who have taken part in NIH study 06-EI-0230, 04-EI-0039, or 13-EI-0049. Design: This is a hybrid study. It will use existing data from NBDPS and NIH studies. It will also use NBDPS for a new survey of mothers of children with coloboma. Participants will take the survey by phone. Their pregnancy records may be reviewed. They will be asked about: Important dates Health and medicines Tobacco, alcohol, and substance use Parents occupations Family demographics. The survey will take 1 hour or less to complete. Some data were obtained in past NIH studies. These data are largely from children. Some family data may be used as well. For example, eye exam data, gene test results, and family history of coloboma may be used. If a participant did not consent to the future use of their data, then their data will not be used. Data will be stored in a secure NIH database. ...
Age range
18 Years – 100 Years
Sex
FEMALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
% of participants with x exposure compared to historical data
Timeframe: ongoing