The human visual cortex responds to gene therapy–mediated recovery of retinal function

• Published in: The Journal of clinical investigation Vol. 121; no. 6; pp. 2160 - 2168
• Main Authors: Ashtari, Manzar, Cyckowski, Laura L., Monroe, Justin F., Marshall, Kathleen A., Chung, Daniel C., Auricchio, Alberto, Simonelli, Francesca, Leroy, Bart P., Maguire, Albert M., Shindler, Kenneth S., Bennett, Jean
• Format: Journal Article
• Language: English
• Published: United States American Society for Clinical Investigation 01.06.2011
• Subjects: Adult; Biomedical research; Carrier Proteins - genetics; Carrier Proteins - physiology; Child; cis-trans-Isomerases; Dependovirus - genetics; DNA, Complementary - administration & dosage; DNA, Complementary - genetics; DNA, Complementary - therapeutic use; Eye Proteins - genetics; Eye Proteins - physiology; Gene therapy; Genes; Genetic Therapy; Genetic Vectors - therapeutic use; Humans; Leber Congenital Amaurosis - genetics; Leber Congenital Amaurosis - physiopathology; Leber Congenital Amaurosis - therapy; Magnetic Resonance Imaging; Photic Stimulation; Recombinant Fusion Proteins - genetics; Recombinant Fusion Proteins - physiology; Recovery of Function; Reflex, Pupillary - radiation effects; Sensory Deprivation; Sensory Thresholds; Technical Advance; Visual Cortex - physiopathology; Pennsylvania

Leber congenital amaurosis (LCA) is a rare degenerative eye disease, linked to mutations in at least 14 genes. A recent gene therapy trial in patients with LCA2, who have mutations in RPE65, demonstrated that subretinal injection of an adeno-associated virus (AAV) carrying the normal cDNA of that ge...