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Subspecialties Retina, Basic & Translational Research, Pediatric

Reversing LCA?

Researchers have been developing a gene therapy for a form of Leber congenital amaurosis (LCA) caused by a mutation in the NPHP5 gene. The mutation leads to rod cell degeneration and death – and an almost identical disease phenotype is seen in dogs with a naturally occurring mutation in the same gene. After injecting AAV viral vectors carrying the normal version of the gene into the (single) eyes of nine five-week-old dogs, the team observed stable restoration of photoreceptor structure, function, and vision – the latter indicated by performance improvements in an obstacle-avoidance course six months after treatment (1). 

“What’s so appealing and so exciting here is that we’re not just stopping a disease process, we’re actually reverting a photoreceptor cell that is abnormal to become normal and function,” said William Beltran, study author and a professor of ophthalmology at Penn. Ongoing studies lead the researchers to believe that the treatment may be effective even at later stages of the disease.

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  1. GD Aguirre et al., Mol Ther, [Online ahead of print] (2021). PMID: 33781914.

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