Visual pigment-deficient cones survive and mediate visual signaling despite the lack of outer segments

Rhodopsin and cone opsins are essential for light detection in vertebrate rods and cones, respectively. It is well established that rhodopsin is required for rod phototransduction, outer segment disk morphogenesis, and rod viability. However, the roles of cone opsins are less well understood. In this study, we adopted a loss-of-function approach to investigate the physiological roles of cone opsins in mice. We showed that cones lacking cone opsins do not form normal outer segments due to the lack of disk morphogenesis. Surprisingly, cone opsin-deficient cones survive for at least 12 mo, which is in stark contrast to the rapid rod degeneration observed in rhodopsin-deficient mice, suggesting that cone opsins are dispensable for cone viability. Although the mutant cones do not respond to light directly, they maintain a normal dark current and continue to mediate visual signaling by relaying the rod signal through rod-cone gap junctions. Our work reveals a striking difference between the role of rhodopsin and cone opsins in photoreceptor viability.

Automated summary

This study investigates the physiological roles of cone opsins in mice using a loss-of-function approach. It finds that mice with cone opsin deficiency are unable to form normal outer segments but can survive for an extended period of time. Although these mutant cones do not respond to light directly, they continue to mediate visual signaling by relaying the rod signals through rod-cone gap junctions.