Approaches to and Advancements in Rare Inherited Genetic Diseases with Roya Attar, OD

At the 2025 American Optometric Association Conference in Minneapolis, MN, Roya Attar, OD, associate professor and director of optometric services at the University of Mississippi Medical Center, presented her lecture on inherited retinal diseases and recent advances in their treatment.1

Inherited retinal disease is the leading cause of blindness in several countries. Patients generally develop some form of visual impairment at a young age, which eventually expands to have a significant impact on quality of life.2

Attar spoke to the value of genetic testing in the field of rare diseases, pointing out its ability to not only accurately diagnose rare genetic diseases, but also to discount potential misdiagnoses.

“Genetic testing is not only a way to confirm a diagnosis, but it’s also a great way to rule out a diagnosis,” Attar told HCPLive. “There’s other things that can certainly masquerade as the possible inherited retinal disease. A patient could have presentations that may be the result of some type of past inflammatory incident in their eye, or as a result of a medication use.”

Attar also discussed her expectations and anticipations for future advancements in gene therapy, from upcoming treatments to the integration of artificial intelligence (AI) programs. She called for companies to make their data accessible to clinicians and patients alike. Additionally, Attar suggested that pharmaceutical companies broaden their treatment scopes to include less potentially profitable treatments to account for patients suffering from rare diseases.

“I implore all pharmaceutical companies to make their data available, and there is an initiative for that already,” Attar told HCPLive. “Obviously, it’s easy for a pharmaceutical company to pick a disease, one that they’ll have a lot of customers for. However, the rare ones sort of get forgotten, but they are individuals that should also have that benefit.”

Attar endorsed the idea of recommending patients sign up for clinical trials, citing the variety of methods by which companies have attempted to make the process easier. Not only do clinical trials allow patients access to medications that may be better suited to their individual needs, but they also receive topline therapy and monitoring.

“One universal thing I have learned is that a lot of providers are not making patients aware that there are clinical trials and studies that they can participate in,” Attar said. “When patients get involved in clinical trials, they essentially receive the best care there is. They are checked, they are given certainly the most comprehensive examination of their eyes, as well as multiple forms of imaging, but also monitored for any type of systemic side effects.”

Ultimately, Attar suggested that both patients and clinicians alike make themselves more aware of clinical trials, both to provide patients with the best possible treatment and to facilitate the research, development, and eventual implementation of improved drugs and medications.

“Whether it’s for an inherited retinal disease, or even if it’s something like diabetic retinopathy, there’s a clinical trial for almost everything,” Attar said. “So please be aware of clinical trials, and make sure that you tell your patients about it. We would be doing our patients a disservice if we did not make them aware of this forum.”

Attar reports the following disclosures: Apellis Pharmaceuticals, Heidelberg Engineering, Glaukos, Tarsus, and Dompe.

References

1. 1: Attar R, Rafieetary M. Inherited Retinal Diseases: Genetic Testing and Emerging Gene Therapies. Presented at the 2025 American Optometric Association in Minneapolis, MN, June 25-28, 2025.

2. 2: Lin S, Vermeirsch S, Pontikos N, et al. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort. Ophthalmol Retina. 2024;8(7):699-709. doi:10.1016/j.oret.2024.01.012