rewriting the Future of Vision: Gene Therapy’s Impact on Eye Diseases
Gene therapy is rapidly becoming one of the most significant advancements in modern medicine,and its impact is notably striking in the field of ophthalmology. For years, numerous inherited and acquired sight-threatening diseases were managed primarily with palliative care. Now, a new era of medicine is offering increasingly targeted and long-lasting solutions, a key topic of discussion at the Italian Society of Ophthalmological Sciences (Siso)-Italian Association of Ophthalmologists (Aimo) congress in Rome.
The field gained significant momentum with the 2017 approval of voretigene Neparvovec (Luxturna) by the FDA – the first “gene drug” for a genetic disease.This approval opened the door to a surge in research, and currently, the eye is the focus of over 350 active or completed clinical trials exploring gene therapy for a wide spectrum of disorders. Data updated to March 2025 reveals a dynamic landscape: twenty trials were awaiting recruitment, 160 were ongoing, 118 had been completed, and 22 had been withdrawn or discontinued.
The eye is proving to be an ideal organ for gene therapy applications. Its relatively isolated nature limits the potential spread of the gene vector beyond the eye itself, and the small drug doses required minimize side effects, resulting in a remarkably safe and effective approach.
This success has solidified the eye as a valuable “model” for gene therapy progress. Over 60 trials are currently focused on hereditary retinal dystrophies, with an increasing number progressing from initial safety assessments to efficacy studies. Several protocols,particularly those targeting inherited dystrophies,are now in Phase III – the final stage before potential regulatory approval. Researchers have already identified over 250 genes linked to inherited eye diseases, creating a considerable pool of potential targets for future gene therapies.
The progress is translating into tangible benefits for patients. Treatments are now at an advanced stage or already approved, demonstrably transforming lives. Successes in hereditary retinal dystrophies – a group of rare diseases like Leber congenital amaurosis, frequently enough caused by a single genetic defect - are particularly noteworthy. In some instances, such as with Luxturna, a single subretinal injection can restore visual function in children and young adults.
