Ocular pathologies represent a significant challenge in the field of medicine, as they can significantly impact patients' quality of life and their visual capabilities. Fortunately, gene therapy has emerged as a powerful tool in the fight against these diseases, offering new hopes and treatment opportunities. In this article, we will explore the concept of gene therapy and its application in the realm of ocular pathologies, highlighting the most recent scientific advancements and their potential impact on visual health.

What is gene therapy?

Gene therapy is a therapeutic strategy that seeks to correct or prevent diseases by modifying an individual's genes. In the context of ocular pathologies, gene therapy aims to correct specific genetic mutations that are involved in the development of ocular diseases, as well as stimulate the production of proteins necessary for healthy visual function.

Unlike conventional treatments that often require regular and long-term interventions, most cellular and genetic therapies are designed to be one-time treatments. This is because intervening in the root cause of the disease once can result in a lifelong cure.

Gene Therapy in the Treatment of Hereditary Ocular Diseases

Gene therapy has shown promising results in the treatment of hereditary ocular diseases such as retinitis pigmentosa and Usher syndrome. These diseases are caused by specific genetic mutations that affect the structure or function of photoreceptors in the retina. Gene therapy can provide healthy copies of the defective gene or introduce genes that promote the survival and function of photoreceptors, potentially halting or slowing the disease's progression and improving vision in patients.

Gene Therapy in Acquired Ocular Diseases

In addition to hereditary ocular diseases, gene therapy has also made significant strides in the treatment of acquired ocular diseases, such as macular degeneration. Both wet and dry macular degeneration are leading causes of vision loss worldwide.

Advances in Gene Therapy for Wet Macular Degeneration

Researchers have developed modified viral vectors capable of delivering healthy genes directly to affected cells in the retina. These genes can inhibit abnormal blood vessel formation and reduce inflammation in the macula. Studies in animal models and initial clinical trials have shown significant improvements in the vision of patients treated with gene therapy.

Gene Therapy for Dry Macular Degeneration

Although dry macular degeneration represents the most common form of the disease, developing effective gene therapies for this condition has been more challenging. However, scientists continue to explore innovative approaches to treat dry macular degeneration through gene therapy. Some strategies include replacing defective genes, stimulating the production of protective proteins, and reducing the accumulation of deposits in the macula.

Challenges and Ethical Considerations

Despite the exciting advances in ocular gene therapy, there are important challenges and ethical considerations that must be addressed. These include the long-term safety and efficacy of gene therapy treatments, optimizing gene delivery techniques, ensuring economic accessibility for patients, and the need for proper informed consent. It is crucial for researchers and medical professionals to work closely together to ensure the safety and success of ocular gene therapy.


Gene therapy has opened new possibilities in the treatment of ocular pathologies, both hereditary and acquired. As scientific advancements continue, we are likely to witness a greater clinical application of this innovative technology, offering hope to millions of people affected by ocular diseases. However, addressing the technical, ethical, and economic challenges associated with gene therapy is essential to ensure its long-term success and to improve the visual health of patients

Victòria Hernández, Head of the Clinical Trials Department