Genes and vitamin A in babies born with very small, missing, or gap-like eye defects
Microphthalmia, anophthalmia and coloboma (MAC) and retinoic acid pathway genes
We are comparing children’s genes and maternal vitamin A history to help explain why some babies are born with very small eyes, missing eyes, or gaps in eye structure.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project ID | NIH-11166344 on NIH RePORTER |
What this research studies
We will enroll children born with very small eyes (microphthalmia), missing eyes (anophthalmia), or gaps in eye structure (coloboma) and collect medical records, family history, and imaging. Participants will give DNA samples so researchers can do whole genome sequencing to look for changes in retinoic acid and retinol-related genes. The team will combine genetic results with detailed exposure information about maternal vitamin A to see how genes and vitamin A together affect eye development. Results will be compared with partners’ patient data and followed up in animal models to learn which downstream genes are affected by vitamin A deficiency.
Who could benefit from this research
Good fit: Ideal candidates are infants and young children with microphthalmia, anophthalmia, or coloboma whose families can provide medical history, imaging, and DNA samples.
Not a fit: People without congenital eye malformations, those with unrelated adult-onset eye disease, or anyone unwilling to provide records or genetic samples are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could improve diagnosis, counseling, and prevention strategies by identifying genetic risks and how vitamin A exposure contributes to severe congenital eye defects.
How similar studies have performed: Prior research has linked retinoic acid pathway genes and vitamin A to severe eye defects and animal studies support these connections, but combining whole-genome sequencing with detailed environmental screening in patient groups is relatively new.
Where this research is happening
Cincinnati, United States
- Cincinnati Childrens Hosp Med Ctr — Cincinnati, United States (Active)
Researchers
- Principal investigator: Slavotinek, Anne M — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Slavotinek, Anne M
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.