A pioneering gene therapy has shown promising results in restoring sight in young children with AIPL1-associated severe retinal dystrophy—an ultra-rare genetic condition that causes profound sight impairment from birth and, until now, had no existing treatment. The findings, published in The Lancet, mark a major step forward in tackling inherited blindness.
Researchers in the UK treated four children, aged 1.0 to 2.8 years, using an adeno-associated viral vector to deliver a healthy copy of the AIPL1 gene directly into one eye via subretinal injection. This early intervention led to striking improvements: over an average of 3.5 years of follow-up, treated eyes showed measurable gains in visual acuity and functional vision, while untreated eyes continued to deteriorate.
Advanced imaging also demonstrated better preservation of retinal structure in the treated eyes. The therapy was generally well tolerated, with no serious safety concerns aside from one case of cystoid macular oedema.
The study highlights that adeno-associated viral-mediated gene supplementation therapy, when delivered at an early age, can markedly improve vision and protect against retinal degeneration. Restoring sight during early childhood, a critical time for brain development, may also offer lasting neurodevelopmental benefits.
Encouragingly, these promising results suggest that early gene therapy intervention could provide the greatest potential for benefit not only for children with AIPL1-related retinal dystrophy, but also for those with other genetic retinal diseases.
Disclosures: This article was created by the touchOPHTHALMOLOGY team utilizing AI as an editorial tool (ChatGPT (GPT-4o) [Large language model]. https://chat.openai.com/chat.) The content was developed and edited by human editors. No funding was received in the publication of this article.
Citation: Gene therapy breakthrough offers hope for children with rare retinal disease. touchOPHTHALMOLOGY.com. 29 April 2025.
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