Two Children Blind Since Birth Regain Sight With Gene Therapy

Two children blind since birth regain their sight with gene therapy at the Vanvitelli University ophthalmology clinic.
A new gene therapy has restored the sight of two children who were blind from birth due to hereditary retinal dystrophy. The innovative technique was implemented in the Eye Clinic of the University of Campania 'Luigi Vanvitelli'. The pathology that the two children were affected by is caused by mutations in a gene called RPE65 and the treatment, developed by the pharmaceutical company Novartis, provides a sort of copy of the gene. "It is the first case in Italy in which two children have been treated," emphasizes Francesca Simonelli, director of the Eye Clinic of the University of Campania Luigi Vanvitelli. "The operation went well, the results are very satisfactory in terms of visual recovery." Hereditary retinal dystrophies are a heterogeneous group of genetically determined eye pathologies in which the involvement of different genes and etiopathogenetic mechanisms leads to the progressive degeneration of the retinal photoreceptors (cones and rods). Mutations in the RPE65 gene cause reduced or absent levels of activity of the RPE65 protein, blocking the visual cycle and causing progressive vision loss and, ultimately, blindness. Only a few thousand people worldwide are affected by retinal dystrophy associated with mutations in the RPE65 gene, a very rare disease. An innovative drug was used at the Eye Clinic of the University of Campania 'Luigi Vanvitelli', whose testing began in Naples 11 years ago. The children had an extraordinary improvement in their vision, they can go down stairs on their own, run and play. Hope has been restored to children affected by congenital blindness”, explained Simonelli.