The retinal pigment epithelium (RPE), a monolayer of post-mitotic polarized epithelial cells,
strategically situated between the photoreceptors and the choroid, is the primary caretaker of …

The retina is one of the most energy-demanding tissues in the human body. Photoreceptors
in the outer retina rely on nutrient support from the neighboring retinal pigment epithelium …

Genetic diseases have been historically segregated into rare Mendelian disorders and
common complex conditions. Large-scale studies using genome sequencing are eroding …

Driven by the energy of a photon, the visual pigments in rod and cone photoreceptor cells
isomerize 11-cis-retinal to the all-trans configuration. This photochemical reaction initiates …

Alternate splicing events can create isoforms that alter gene function, and genetic variants
associated with alternate gene isoforms may reveal molecular mechanisms of disease. We …

Oculocutaneous albinism (OCA) is a rare disorder of pigment production. Affected
individuals have variably decreased global pigmentation and visual-developmental …

Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a
leading cause of irreversible blindness worldwide. However, its molecular and cellular …

Retinal development is under the coordinated control of overlapping networks of signaling
pathways and transcription factors. The paper was conceived as a review of the data and …

The success of genome-wide association studies (GWASs) in uncovering genetic variants
associated with complex eye diseases has paved the way for the development of risk …

By controlling the passage of small molecules across lipid bilayers, membrane transporters
influence not only the uptake and efflux of nutrients, but also the metabolic state of the cell …