Vision-related diseases pose significant challenges in medicine, affecting both visual capacity and patients' quality of life. The advent of gene therapy marks a new era in treatment, offering new possibilities for both hereditary and acquired conditions, providing hope to millions.
Gene therapy involves modifying or introducing genetic material into retinal cells responsible for the disease. This therapeutic strategy aims to correct or prevent specific ophthalmological diseases by targeting the genetic mutations involved in their development.
Importantly, gene therapy can serve as a one-time treatment, addressing the root cause of the disease, which is a significant shift compared to conventional treatments that often require regular consultations over extended periods.
Notable advancements have been made in treating hereditary retinal dystrophies, utilizing modified viral vectors to alter the functionality of retinal cells, enabling them to produce proteins that can control the disease or modify their genetics for healing.
Currently, only one gene therapy treatment, Luxturna, is approved for a specific form of hereditary retinal dystrophy, namely Leber congenital amaurosis or retinitis pigmentosa associated with the RPE 65 gene. However, several clinical trials are underway for other genetic retinal diseases, which are expected to have similar effects in halting visual loss. One such example is Stargardt disease, the most common hereditary juvenile macular degeneration associated with mutations in the ABC4 gene.
Moreover, advancements in gene therapy are expanding to other conditions, such as age-related macular degeneration (AMD), the leading cause of blindness in developed countries. Research has begun into the use of gene therapy for dry AMD, showing promising results for wet AMD as well. With ongoing research, it is anticipated that a single dose could control the disease for several months or even years, in contrast to the current regimen of injections every 2-3 months.
Thus, gene therapy represents a breakthrough and a beacon of hope in ophthalmology, potentially shaping the future for many retinal diseases classified as 'rare' due to their relative infrequency. Genetic studies for these patients are essential to categorize their diseases and prepare for upcoming therapies.