WVU vision researchers explore mislocalization in retinal synapses

Vision researchers at the West Virginia University School of Medicine are exploring a cellular process known as protein mislocalization to better understand how inherited genetic mutations that impact retinal synapses can result in blinding diseases like retinitis pigmentosa.

Samantha Thompson, a fifth-year doctoral student in the WVU School of Medicine’s Biochemistry and Molecular Medicine Graduate Program, has spent the last three years piloting this project alongside Assistant Professor Michael Robichaux, Ph.D.

“Mislocalization is a process that occurs when a protein, such as the light-sensitive retinal protein known as rhodopsin, deviates from its intended location within a cell or organism,” Thompson said. “Our project examined what happens when rhodopsin mislocalizes within the retinal synapses, which play a key role in the transmission of visual information in the eyes.”

Thompson explained that retinitis pigmentosa, a rare inherited eye disease that causes progressive vision loss, can be caused by different protein mutations. Through this project, the research team found that depending on the mutation, the protein can mislocalize differently.

“We found that when rhodopsin mislocalizes within the cell instead of the membrane, it can impact the abundance of synaptic proteins in the retina,” Thompson explained. “This was a significant discovery for us, as mislocalization within the retinal synapses remains a relatively underexplored area of visual science. These findings can be used in future research to further study the retinal synapses and determine therapeutic treatment windows for devastating blinding diseases like retinitis pigmentosa.”

Thompson had the opportunity to conduct a large number of the laboratory experiments for this project herself, which included examining the mislocalization process by utilizing super-resolution imaging and electron microscopy. She said this was perhaps her favorite part of the research process, as it helped her better understand the retina at a microscopic level.

“The microscopes allow us to observe mislocalization at the nanoscale and see those changes in real time, which was a process I found endlessly fascinating,” she said. “Hands-on laboratory experience like this has been invaluable throughout my time as a Ph.D. student, as it’s helped me reaffirm my passion for vision research in an academic setting while also giving me a taste of what a career in the field could be like.”

Thompson helped formulate and plan the laboratory experiments alongside Dr. Robichaux in addition to performing protocol writing. Additional members of the research team included WVU medical student Sophie Crowder, postdoctoral researcher Maryam Hekmatara, Ph.D., and Assistant Professor Wen-Tao Deng, Ph.D.

After three years of hard work, the team’s research recently came to a close as their findings were accepted for publication in the June 2025 issue of the academic journal Disease Models & Mechanisms.

“It’s exciting to finally reach the finish line and achieve publication after years of hard work, but it can also feel bittersweet,” Thompson said. “I’ve been involved with this project for the majority of my time here at WVU, so I know I will miss spending that time in the lab working with this incredible team. I feel very grateful to have been a part of this project.”

To learn more about vision research at the WVU School of Medicine, visit medicine.hsc.wvu.edu/eye/research.