Potential Gene Therapy Developed for Childhood Blinding Disease

Researchers at the National Eye Institute developed a gene therapy that rescues cilia defects in retinal cells affected by a form of Leber congenital amaurosis—a disease that results in blindness in early childhood—caused by mutations in the NPHP5 (or IQCB1) gene, which leads to severe defects in the primary cilium. Studies in patient-derived retinal organoids led to the development of an adeno-associated virus (AAV)-mediated IQCB1/NPHP5 gene augmentation therapy that ameliorated disease phenotype.