How two rhodopsin changes (G90D and G90V) damage vision
Molecular mechanism of the visual disorders caused by G90D and G90V rhodopsin mutations
This work looks at how two rhodopsin mutations, G90D and G90V, change rod cell function and lead to congenital night blindness or retinitis pigmentosa in people who carry them.
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 ID | NIH-11110438 on NIH RePORTER |
What this research studies
If you carry one of these rhodopsin mutations, researchers have made mice with the same changes to see what goes wrong in rod cells. They will study rod cell shape and health, record electrical responses to light in living animals and single cells, and measure the molecular and spectral properties of the mutant rhodopsin protein. By linking molecular defects to cell dysfunction, the team hopes to explain why G90D causes congenital stationary night blindness and G90V causes retinitis pigmentosa. Those insights are meant to guide future efforts toward targeted treatments or counseling.
Who could benefit from this research
Good fit: People with a diagnosis of congenital stationary night blindness or retinitis pigmentosa who have a confirmed G90D or G90V rhodopsin mutation would be most relevant to this work.
Not a fit: Patients whose vision loss is caused by other genes or non-genetic causes, or who do not carry the G90D/G90V mutations, are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could reveal the steps by which these mutations cause vision loss and point to targets for future therapies or genetic counseling.
How similar studies have performed: Earlier biochemical and structural lab studies showed these mutations destabilize rhodopsin, but comprehensive mouse-based physiological and molecular characterization tying those changes to rod function is still limited.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: Kefalov, Vladimir Jivkov — University of California-Irvine
- Study coordinator: Kefalov, Vladimir Jivkov
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.