Envision Summit 2025: Difficulties in diagnosing inherited retinal degenerations

At the Envision Summit 2025 in San Juan, Puerto Rico, Oleg Alekseev, MD, PhD, talked about difficulties in diagnosing inherited retinal degenerations due to mutations in over 300 different genes.

Video Transcript:

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

Oleg Alekseev, MD, PhD:

My name is Oleg Alekseev, and I am an assistant professor of ophthalmology at the Duke Eye Center. My talk today focused on the difficulties in diagnosing inherited retinal degenerations. This is a group of, a large group, of genetic causes of blindness that are caused by mutations in over 300 different genes. As you can imagine, it can be difficult to diagnose them, because they all look kind of similar and kind of different. There are two major challenges associated with them. One is that they're all individually very rare. So most practitioners see very few of them, if any at all. And the other is that they can mimic other, more common conditions, and they can also mimic each other. And that really throws a wrench into the diagnostic process.

Nowadays it is more important than ever to appropriately diagnose these conditions for a couple of reasons. First of all, we now have, for the first time, we now have a FDA approved gene therapy for one of these conditions. That's been approved since 2017. And so it is very important to identify those patients who are candidates for treatment with that gene therapy. The other reason is that for other genes that cause these kind of conditions, there are many clinical trials that are either ongoing or are gearing up, and so it's important to figure out who is a candidate, a potential candidate, for those clinical trials as well. Another very important reason is that not all of these conditions are restricted to the eye. Some of them are syndromic, meaning that they have different systemic manifestations in other body parts, like the kidney, the heart, et cetera. So establishing the accurate diagnosis in a patient means that you may be the first physician identifying something that is an actionable avenue of intervention or prevention for that particular patient.