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

Conclusions: Nphp5-/-; Nrl-/- 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.
PMID: 30713422 [PubMed - in process]

Source: Molecular Vision - February 6, 2019 Category: Molecular Biology Tags: Mol Vis Source Type: research