Understanding how specific rhodopsin mutations lead to vision loss
Official title: Molecular mechanism of the visual disorders caused by G90D and G90V rhodopsin mutations
Funded at University of California-Irvine · NIH-10826276 · Data updated 2026-11-12
This study is looking at how specific changes in a protein called rhodopsin can lead to vision problems, using specially modified mice to see how these changes affect the cells in the eye that help us see, so we can better understand why some people go blind from these mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $595,566 |
| NIH project number | 1R01EY035884-01 |
| Project ID | NIH-10826276 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with congenital stationary night blindness or retinitis pigmentosa linked to G90D or G90V rhodopsin mutations.
✕Less likely to help
Patients with vision disorders not associated with rhodopsin mutations or those with other unrelated genetic conditions may not benefit from this research.
What this research studies
This research investigates the molecular mechanisms behind vision disorders caused by mutations in the rhodopsin protein, specifically the G90D and G90V mutations. Using genetically modified mice that carry these mutations, the study will analyze the structure and function of rod photoreceptors to understand how these mutations disrupt normal vision. The approach includes a combination of morphological studies, electroretinography, and biochemical analyses to uncover the underlying causes of blindness associated with these mutations.
Why it matters
Potential benefit: If successful, this research could lead to the development of targeted therapies for patients suffering from vision loss due to these specific genetic mutations.
How similar studies have gone: Previous research has shown promising results in understanding rhodopsin mutations and their effects on vision, indicating that this approach has potential for success.
Where this research is happening
-
University of California-Irvine
Irvine, United States Active
Researchers
- Principal investigator: Kefalov, Vladimir Jivkov — University of California-Irvine
- Study coordinator: Kefalov, Vladimir Jivkov
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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.