Investigating eye defects related to vitamin A and genetic factors
Microphthalmia, anophthalmia and coloboma (MAC) and retinoic acid pathway genes
This study is looking at how certain genetic factors and a lack of vitamin A during pregnancy might cause serious eye problems like microphthalmia, anophthalmia, and coloboma, and it's for people who have these conditions to help find better ways to support them.
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-10918222 on NIH RePORTER |
What this research studies
This research focuses on microphthalmia, anophthalmia, and coloboma (MAC), which are serious eye defects leading to visual impairment. It aims to understand how genetic variations in the retinoic acid pathway and environmental factors, particularly maternal vitamin A deficiency, contribute to these conditions. By recruiting patients with MAC, the study will conduct detailed assessments and genetic analyses to identify correlations between genetic factors and the severity of eye defects. The findings could help in developing targeted interventions for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with microphthalmia, anophthalmia, or coloboma.
Not a fit: Patients with eye defects not related to genetic or vitamin A factors may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of eye defects, potentially enhancing vision outcomes for affected patients.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors related to eye development, making this approach both relevant and potentially impactful.
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.