Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

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 …

Retinal pigment epithelial cells (RPE) constitute a simple layer of cuboidal cells that are
strategically situated behind the photoreceptor (PR) cells. The inconspicuousness of this …

Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Blindness, although not life threatening, is a debilitating disorder for which few, if any
treatments exist. Ocular gene therapies have the potential to profoundly improve the quality …

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in
children,,. Identification of four genes mutated in NPHP subtypes 1–4 (refs.–) has linked the …

The major focus of this article is on mammalian skin pigmentation, including the regulation of
pigment production, and the biogenesis of melanosomes and their intracellular and …

Small GTPases of the Rab family control timing of vesicle fusion. Fusion of two vesicles can
only occur when they have been brought into close contact. Transport by microtubule‐or …

High-resolution retinal imaging is revolutionizing how scientists and clinicians study the
retina on the cellular scale. Its exquisite sensitivity enables time-lapse optical biopsies that …

The mechanisms underlying retinal dystrophy in Usher syndrome type I (USH1) remain
unknown because mutant mice lacking any of the USH1 proteins—myosin VIIa, harmonin …