EURETINA 2025: Sofia Androudi on retinal disorders mimicking inherited retinal diseases

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

Sofia Androudi, MD: Good morning. My name is Sofia Androudi, and I'm professor and head of the University Eye Clinic in Thessaloniki, Greece. The topic of my talk today is retinal disorders mimicking inherited retinal diseases. Inherited retinal diseases is the most frequent cause of visual loss in people of working age. They affect 2.5 million of people globally, and as you can expect, they have a significant impact in quality of life and income loss. But the thing is that inherited retinal diseases patients get a diagnosis based on clinical phenotype alone, and we're talking about very heterogeneous disease. For instance, a retinitis pigmentosa can look like Leber congenital amaurosis. But on the other hand, there are retinal diseases, acquired diseases that can look like inherited retinal diseases.

We're entering the era of cell and gene therapies, and it's very important to have a correct diagnosis, so the patient can get the appropriate treatment or does not get mistreated. To reach this diagnosis, you we need to have a high index of suspicion. We need to look at the unilateral versus bilateral. For example, if the disease is unilateral, we shift away from the IRD. We have to take a detailed medical and clinical history and ophthalmic history. For instance, when did the symptoms start? Are there any other family members affected? We have to take good quality multimodal imaging, and don't forget the electrophysiology. Where we are going from now with the artificial intelligence, the registries, and the advanced imaging, yes, we can refine our diagnostic algorithms, but at the end of the day, it's the multi-disciplinary approach and collaboration and the clinical hands that are our best tools.

Yes. So if you have a case that you are on the fence on, then you have to refresh and restart and think the case from the start. And don't forget to ask for help, ask other colleagues. You are a retina specialist, ask the uveitis specialist, get the genetic testing big and do perform high-quality, multi-modal imaging that you are going to look at yourself. Don't wait for the technician to bring you a print out, but go-to the machine, to the OCT and scroll frame-by-frame to look [for] what you're missing. And don't forget the autofluorescence.