Q&A: Siegfried Priglinger, MD, on the long-term outcomes of gene therapy in preschool kids

Photo of Siegfried Priglinger, MD, taken at the 2025 Retina World Congress meeting.

At the Retina World Congress in Fort Lauderdale, Florida, the Eye Care Network spoke with Siegfried Priglinger, MD. Prof Priglinger is director and chairman of the University Eye Hospital of the Ludwig-Maximilians-Universität, in Munich, Germany. The research he presented at the meeting focused on pediatric patients with inherited retinal diseases (IRDs), with an emphasis on studies into the RPE65 gene.

Note: The following conversation has been lightly edited for clarity.

Ophthalmology Times: Can you share about your work on gene therapy for inherited retinal diseases?

Siegfried Priglinger, MD: We've been doing gene therapy since 2019. The thing is, if you do gene therapy, you have to know that you want to target as much healthy tissue as possible. Good thing in kids is that you have the chance that you still have RPE and photoreceptors alive. The younger we treat the children, the better the outcome is gonna be. This is what we have been showing that, if we treat the kids from three years on, we can even have an improvement of visual acuity from 20/200 to 20/25, it's very, really exciting. And you definitely change the life of a kid with one treatment.

OT: You spoke on your work with IRDs and treating children as young as preschool age at this meeting. What did you share during your talk?

Priglinger: I presented on IRDs, inherited retinal diseases. The Luxturna treatments, which is focusing the RP65 gene, the gene therapy with a vector, AAV vector, which allows the retinitis pigmentosa (RP) cells to produce their own RP65, which is necessary for the light circuit, and in the end, gives those kids, those parents, the chance to reactivate photoreceptors and to see again.

OT: What do you find that parents of children with IRDs are curious about or what they expect from their child's treatment?

Priglinger: Though to be honest, I think it's not the parents we should expect anything. It's the colleagues working outside in the field, just the normal the ophthalmologists, independently of the subspecialty what they're working on when they have a kid with the reduced visual acuity, they should always think of an IRD and send them to a specialist to make sure that these kids are recognized very soon, the younger, the better.

OT: What is the process for following up with a young child treated with gene therapy for an IRD?

Priglinger: So the usual follow up we do is after the first year. Obviously, the first year the kids come very often. We check them. We don't want to see any complications, satellites, such like immunity reaction, intraocular inflammation. This has to be excluded. We don't want to see a retina detachment after the vitrectomy. But then we follow them. We do a visual acuity test. We do ERG, obviously, we do visual field testing, and yeah, then we have to keep fingers crossed that this treatment is supposed to be a treatment once that lasts forever. It lasts very long, and we just can watch them, how they develop. We have kids who didn't find those typical layer charts before the treatment afterwards, started to read, improving ta visual acuity up to 20/20, 20/25 and obviously these are the very best ones. But still, if they develop 20/50 they can read now and can go to school, just have a normal life.

OT: What do you hope is coming for the future of treating IRDs?

Priglinger: Yeah, what I would love, love to have is that we have a treatment for every gene defect, I think [there are] more than 200, we have more gene defects, genes which we are working on, which were kids are waiting outside. That research is going on that we get them approved. It took about more than 20 years for RP65. Hopefully it's not going to be, not going to take 25 years for each of these gene defects, but I'm pretty much sure that the researchers are going to solve this problem.