Meet Dr. Lucia Sobrin: Leading the way in Birdshot Research

Lucia Sobrin, MD, MPH, is a leading clinician and researcher at Massachusetts Eye and Ear where she serves as Director of the Morse Laser Center and Co-Director of Ocular Immunology and Uveitis Fellowship. She is also the Charles Edward Whitten Professor of Ophthalmology at Harvard Medical School. Many in our birdshot community are interested in her research.

Josette Abruzzini: Welcome, Dr. Sobrin! We're happy to have you here!

I'd like to start by thanking you and your colleagues at ME&E for the fine work you've already completed. For one, you've identified patterns of leakage of the retinal vessels that are associated with birdshot uveitis. You've also shared these patterns with ophthalmologists and retinal specialists. As a result, birdshot uveitis is being considered earlier in the diagnosis process, and this is resulting in less vision loss for new patients. Kudos!

Most people with the HLA-A29 gene do not develop birdshot. You are currently helping Massachusetts Eye & Ear establish a birdshot biobank, and are comparing gene sequences of people with and without HLA-A29. That’s very exciting. Could you give us an update on the biobank?

Dr. Sobrin: We currently have DNA on approximately 85 patients with birdshot uveitis and 4430 patients with HLA-A29 who have not developed birdshot uveitis. We are continuing to recruit patients with birdshot uveitis to the bank. We are having conversations with a DNA sequencing center about performing the genetic typing on all of these samples. We hope we will be able to type the DNA and analyze the information within the next 2 years, if all goes well. There are other uveitis centers around the world who also working on the genetics of uveitis and we hope to eventually combine datasets for a larger, more powerful analysis.

Josette: I understand you’re also interested in identifying environmental triggers. Could you share a little about the environmental factors that you are considering?

Dr. Sobrin: We are interested in studying environmental triggers but this is a much more difficult question to answer than the genetics question. This is because our environment is so complex – there are so many things – chemicals, infectious agents, nutrients, etc. – that our bodies come into contact with every day. We would like to focus on infections. This is because there is evidence that infections, particularly viral infections, have immediately preceded the onset of birdshot uveitis in some patients and they also immediately precede other forms of uveitis.

There is also evidence from other autoimmune diseases that infections can trigger disease – a good example of this is the recent discovery that Epstein Barr Virus is an important trigger for multiple sclerosis. Studying this requires a very large data set and ideally blood samples from patients before and after they develop birdshot uveitis so we can determine what infectious agents they were newly exposed to around the time of birdshot uveitis onset. We are currently in the planning stages of a grant to examine this is uveitis overall but would like very much to study it in birdshot specifically.

Josette: Which areas of research do you think also show promise for understanding birdshot?

Dr. Sobrin: I think the two areas of genetics and environmental triggers are very important for understanding birdshot. Genetics especially is important because it may reveal new targets for more personalized, targeted treatment of birdshot uveitis.

Another promising area of research would be artificial intelligence examining retinal images of birdshot patients to provide insights into which patients are more or less likely to progress and whether there are clues to helping us pick the best, personalized treatment regimen for patients.

Josette: You are also known for your work on diabetic retinopathy and in macular degeneration. Are there any commonalities between these diseases and birdshot? And what are the most significant differences?

Dr. Sobrin: The general commonality between age-related macular degeneration (AMD) and birdshot uveitis are that the choroid (the vascular layer under the retina) and retina are the primary areas of damage that lead to vision loss. AMD and birdshot uveitis also share that there is a clear genetic predisposition to both diseases.

Diabetic retinopathy and birdshot uveitis share several commonalities. Both lead to macular edema, or swelling of the center of the retina, and that is a leading cause of vision loss in both diseases.

In both diabetic retinopathy and birdshot uveitis, the retinal vessels can be damaged and inflamed leading to leakiness. In fact, steroids injected into the eye are a treatment for both diabetic retinopathy and birdshot uveitis. There are many differences among the diseases. AMD primarily is a disease of the center of the retina (the macula) while birdshot uveitis affects the entire retina (central and peripheral).

Josette: Looking back on your early years in ophthalmology, was there a person or an experience that lead to your interest in birdshot?

Dr. Sobrin: There are two people whose influence led to my interest in birdshot uveitis. The first is Dr. Janet L. Davis at the Bascom Palmer Eye Institute. When I was a resident there, one of the research projects I did under her mentorship was on the monitoring of birdshot uveitis with electroretinography.

The second is Dr. Stephen C. Foster whom I completed my uveitis fellowship under at the Massachusetts Eye Research and Surgery Institution. I saw many patients with birdshot uveitis during my fellowship year and completed a research project on the treatment of birdshot uveitis with daclizumab, a medication that is actually no longer easily available.

From both Dr. Davis and Dr. Foster I learned how to take excellent care of uveitis patients, including birdshot uveitis patients.

Josette: And finally, do you have any wisdom to share with today’s ophthalmology students?

Dr. Sobrin: I would advise young ophthalmology residents to strive to maintain the same level of enthusiasm and curiosity throughout their careers. As we progress in our careers, pressures creep into our practice from insurance companies or other sources that can weigh us down. It is important to keep the patient at the center of all we do despite these burdens. Take care and time in examining and treating patients. That is when interesting discoveries can be made – when we take the time to notice something different on an imaging study or in a patient’s history.

Curiosity can lead you to ponder something that may make in an important difference to that patient’s care and even potentially to other patients with the same disease through research and dissemination of the knowledge gained.

Again, thank you Dr. Sobrin. That's great advice for all of us. You've been a good friend to BUSNA and to the entire birdshot community!