Paul S. Bernstein, MD, PhD, Vice-Chair for Clinical and Basic Science Research at the John A. Moran Eye Center, is a renowned retinal specialist and a prolific researcher whose work is shaping the future of eye care. We asked him three important questions related to some of his recent research.
SHOULD RETINAL SPECIALISTS DO GENETIC TESTING FOR PATIENTS WORRIED ABOUT THEIR RISK FOR AGE-RELATED MACULAR DEGENERATION (AMD)?
This is a question on the minds of many physicians whose patients have family members with the disease, which is the largest cause of vision loss for people age 60 and over.
Current guidelines don’t recommend testing, but they date back 12 years. Genetic testing to determine risk for AMD is now affordable and reliable.
We studied 80 subjects to examine whether genetic testing was worthwhile for someone who may or may not develop AMD decades down the road. Would they change their behaviors to lower risk: lose weight, improve their diet, or quit smoking? Would testing cause stress or anxiety, maybe even depression?
We couldn’t prove people would make a major dietary change. We believe we’d need a much larger study to do that, and many of our participants already had healthy lifestyles. But we learned a lot on the psychological side. Subjects were interested and engaged in testing; they found the information very valuable, and we induced zero anxiety or depression.
CAN WE IMPROVE EYE HEALTH FOR PREGNANT MOTHERS AND BABIES BY BUILDING BETTER PRENATAL VITAMINS?
I study the role of carotenoids such as lutein and zeaxanthin in eye health and why and how the eye goes out of its way to concentrate them early in life, as vision is developing. We get carotenoids from dietary sources—dark green leafy vegetables and orange and yellow fruits and vegetables.
My lab has shown that carotenoids improve eye health for AMD patients, so I decided to investigate whether they could be beneficial as a supplement for pregnant mothers and their soon-to-be-born babies.
Just when we began recruiting for the clinical trial, COVID hit. We were still able to do the trial with 47 women, most of them hospital and university employees. We showed that the supplements were safe and raised carotenoid levels for the mother and the child. We also observed that the fovea—that’s the part of the eye responsible for detailed central vision—of these babies was more mature at birth.
We are seeking funding to conduct a second study, this time focusing on high-risk pregnancies in Utah and Ghana.
ARE WE CLOSE TO A TREATMENT FOR A RARE EYE DISEASE KNOWN AS MACULAR TELANGIECTASIA TYPE 2 (MACTEL)?
This was an orphan disease until new imaging technologies made it easier to identify, and the MacTel Project launched an international research collaboration to study it.
At Moran, we have the largest cohort of Mac-Tel patients (more than 150) at a U.S. academic center. One of our Utah multigenerational MacTel families led to the discovery of the first gene for MacTel, which helped us understand, in part, what’s causing this disease that leads to a slow loss of central vision in middle-aged individuals.
In terms of treatments, we were involved in preliminary studies of therapeutic doses of serine, an amino acid deficient in MacTel patients, and we will be part of an upcoming larger clinical trial.
The most exciting thing has been this year’s FDA approval of the first MacTel treatment: ENCELTO. This is a capsule, placed in the eye, that is packed with bioengineered cells that secrete a protein supporting retinal cells. I was involved in a clinical trial that showed it slows disease progression by about 30 percent, and I recently performed the first commercial ENCELTO implantation in the Mountain West in one of our MacTel patients.
It’s fantastic to see a project for a disease we knew very little about get all the way to a new therapy I can offer my patients. I’m thankful for Moran’s culture of innovation, which supports long-term research like this.
