Gene Therapy in Opn1mw^-/-/Opn1sw^-/- Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations.

ABSTRACT: Blue cone monochromacy (BCM) is a congenital vision disorder affecting both middle-wavelength (M) and long-wavelength (L) cone photoreceptors of the human retina. BCM results from abolished expression of green and red light-sensitive visual pigments expressed in M- and L-cones, respectively. Previously, we showed that gene augmentation therapy to deliver either human L- or M-opsin rescues dorsal M-opsin dominant cone photoreceptors structurally and functionally in treated M-opsin knockout (Opn1mw^-/-) mice. Although Opn1mw^-/- mice represent a disease model for BCM patients with deletion mutations, at the cellular level, dorsal cones of Opn1mw^-/- mice still express low levels of S-opsin, which are different from L- and M-cones of BCM pati

SUBMITTER: Ma X 

PROVIDER: S-EPMC9347391 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature