Gene therapy is emerging as a promising treatment for genetic retinal disorders, with research demonstrating significant progress in animal models and early clinical trials, according to a presentation at the 50th Annual Meeting of the American Association for Pediatric Ophthalmology and Strabismus.
A clinical trial on gene replacement therapy for RPE65-associated Leber Congenital Amaurosis demonstrated significant improvements in functional vision, offering proof-of-concept that other genetic retinal diseases could also be treated. Researchers have since developed and studied animal models for conditions like retinitis pigmentosa, X-linked retinoschisis, Bardet-Biedl Syndrome, and CLN3 Batten disease, according to the presentation. By establishing safety and efficacy markers, they have tested gene replacement and other potential treatments.
Among key findings, scientists discovered that even a “sham” injection had therapeutic effects and developed a gene therapy vector capable of reversing cone dysfunction in a mouse model of progressive retinal degeneration—an advancement now progressing toward clinical trials.
Reference
Drack AV, et al. Developing treatments for pediatric genetic blindness: from bedside to bench and back. Presented at: 50th Annual Meeting of the American Association for Pediatric Ophthalmology and Strabismus; March 5-9, 2025; Salt Lake City, UT.
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