Rescue of cone function in cone-only <i>Nphp5</i> knockout mouse model with Leber congenital amaurosis phenotype.

Abstract

<i>Nphp5^-/-; Nrl^-/-</i> cones persistently express cone pigments in the inner segments without obvious degeneration, providing an extended duration interval for viral gene expression. Viral expression of full-length NPHP5 initiates ciliogenesis between P15 and P60, and mutant cones are, in part, functional, encouraging future retina gene replacement therapy.