ARVO 2025: Analysis of birdshot retinochoroidopathy.

At ARVO 2025, in Salt Lake City, Utah, C Michael Samson, MD, MBA, gave insight into his data on immune cell profiling in birdshot retinochoroidopathy using single-cell RNA sequencing.

Video Transcript:

Editor's note: The below transcript has been lightly edited for clarity.

C Michael Samson, MD, MBA:

Hi, I'm Mike Samson. I'm the director of the Uveitis service at NYU University, and I'm here to talk about my ARVO 2025 research into birdshot retinochoroidopathy. The idea behind the research is to to get a better understanding of this relatively rare but serious blinding condition, and we did this by analyzing the blood of patients affected with this birdshot, comparing them to healthy normals. And looking specifically at, you know, certain type of cell types that we think are important in the pathology of the disease.

The findings that are presented in the poster have changed from the time I submitted the study, back at the end of last year. My team was able to do more in-depth research, and so we've been able to change our sort of interpretation of the data. And this is a pretty common thing that occurs in the evolution of research, where the ideas that you had initially are sort of different when it came out.

Our study was based actually on a data set originally collected by a group at NIH, and they had originally reported that a certain type of cell was very important in birdshot, natural killer cells. Our group was very interested in a different class of cells. And you know, research these days is very collaborative, and actually the data that they use for their study was made publicly available, so my team was able to look at that, and we looked more carefully at a different type of cell, so called the CD8 cells. And indeed, we did find confirmation that there's a very big difference in skew of these type of cells compared to that seen in healthy individuals.

Uveitis, which is sort of the broader disease umbrella, encompasses many, many different disorders. Birdshot, again, being only one of them. We specifically chose birdshot because it's actually for uveitis specialists, it's very easy to diagnose because it's linked very heavily with a gene called HLA-A29 gene. So our theory was that if you wanted to look at any type of uveitis and understand the mechanisms, birdshot specifically would be the best candidate. Because it's so similar with the disease, and because it looks very similar the way it presents in patients, we figured that the immune process should also be similar between patients, which would be different from other types of uveitis. So if my team and other teams around the world confirm that there is a immune pathway for birdshot, this opens up the possibility of understanding all the types of uveitis. I think for most researchers, the natural end result of this research is actually being able to find ways of better treating birdshot or possibly even curing it through immunological mechanisms.

However, my backgrounds as a clinician, I've only recently dove into molecular research, and I see this research actually having benefit for patients within the next year or two. If we can find immune signature of these birdshot patients, it would be another way of categorizing uveitis that's not been used before.