Retinal photoreceptor cells contain a specialized outer segment (OS) compartment that
functions in the capture of light and its conversion into electrical signals in a process known …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Rhodopsin, the visual pigment mediating vision under dim light, is composed of the
apoprotein opsin and the chromophore ligand 11-cis-retinal. A P23H mutation in the opsin …

To serve vision, vertebrate rod and cone photoreceptors must detect photons, convert the
light stimuli into cellular signals, and then convey the encoded information to downstream …

Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …

Mutations in the CNGB3 gene account for> 50% of all known cases of achromatopsia.
Although of early onset, its stationary character and the potential for rapid assessment of …

Defects in primary cilia lead to devastating disease because of their roles in sensation and
developmental signaling but much is unknown about ciliary structure and mechanisms of …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Abstract Peripherin 2 (PRPH2), also known as RDS (retinal degeneration slow) is a
photoreceptor specific glycoprotein which is essential for normal photoreceptor health and …

Retinal rod photoreceptor cells have double membrane discs located in their outer
segments (ROS) that are continuously formed proximally from connecting cilia (CC) and …