Gene therapy for inherited retinal diseases: progress and possibilities

Area of Science:

• Ophthalmology and Genetics
• Molecular Biology and Virology

Background:

• Inherited retinal diseases (IRDs) are a diverse group of genetic disorders impacting vision, caused by mutations in over 300 genes.
• These conditions lead to progressive vision loss and blindness through photoreceptor, retinal pigment epithelium, or choroid degeneration.
• Current treatments for IRDs are limited, but gene therapy presents a promising new avenue.

Purpose of the Study:

• To provide an overview of the current progress and challenges in gene therapy for inherited retinal diseases.
• To highlight the potential of gene therapy in treating monogenic IRDs.
• To discuss the role of optometrists in identifying patients eligible for gene therapy.

Main Methods:

• Review of current research and clinical trials in retinal gene therapy.
• Discussion of gene therapy strategies including gene augmentation and gene editing.
• Examination of viral vectors such as adeno-associated virus (AAV) and lentivirus for gene delivery.

Main Results:

• The retina is a favorable target for gene therapy due to its immunoprivileged status and accessibility.
• Voretigene neparvovec-rzyl (Luxturna) is the first FDA-approved gene therapy for an IRD, with more treatments anticipated.
• Ongoing clinical trials are exploring gene therapy for various IRDs.

Conclusions:

• Gene therapy represents a rapidly evolving field with significant potential to restore vision in patients with IRDs.
• The development of effective gene therapies is transforming the treatment landscape for previously incurable genetic eye conditions.
• Collaboration between researchers, clinicians, and optometrists is crucial for advancing IRD gene therapy and patient care.