Guarding Photoreceptor Metabolism to Prevent Vision Loss in Inherited Retinal Diseases

Warren Pan, M.D., Ph.D., M.Phil., a first-year resident, has received a Career Starter grant from the Knights Templar Eye Foundation. The foundation supports basic and clinical research in pediatric ophthalmology.

Dr. Pan plans to use this award to explore a novel treatment for inherited retinal degenerations (IRDs), a group of diseases that can cause childhood blindness.

Of the more than 280 IRD-causing genetic mutations, only one mutation has an FDA-approved treatment. Because these inherited retinal degenerative diseases share common characteristics, Dr. Pan is focused on developing a treatment capable of treating any one of these mutations by targeting a common aspect of disease.

“Photoreceptor cells turn light into vision. That’s a lot of work,” Dr. Pan explains. “These cells need a healthy metabolism to consume nutrients, generate energy, and recycle waste to do their job. We believe that metabolic impairment is central to these mutations causing these photoreceptors to degenerate in IRD.”

“If we can treat the metabolic health of these photoreceptors,” he continues, “we can prevent vision loss, regardless of which mutation a child may have.”

For this study, Dr. Pan will use an established mouse model of IRD driven by one of the more common mutations. He will treat the photoreceptor cells with a drug that changes their metabolism. He will then measure photoreceptor metabolism and visual function as the disease progresses.

“Our ultimate goal is to prevent vision loss in children regardless of which mutation they may have been born with,” he says.