Gene therapy for ocular problems in mucopolysaccharidosis: An experimental and promising approach with benefits in animal models - a review

Abstract: Despite the availability of haematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy, the prevention and treatment of ocular manifestations in patients with mucopolysaccharidosis (MPS) remains a challenge. Novel therapeutic approaches based on in vivo, viral vector-mediated gene transduction are currently under investigation. Systemic gene therapy holds promise in humans, given the histopathological and electrophysiological evidence of partial improvement to complete correction in visual function (depending on the experimental conditions) in animal models of MPS. Local gene therapy for the management of ocular features of MPS, in contrast, has seen limited testing in preclinical studies. However, this approach has been successfully applied in various inherited retinal diseases, including Leber congenital amaurosis, for which it has reached the clinical testing stage. Acquired experience may fuel further investigations of the potential benefit of intraocular gene therapy in MPS.