Located between vessels of the choriocapillaris and light-sensitive outer segments of the
photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in …

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 …

Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To
date, mutations in eight genes have been described, which together account for∼ 45% of …

Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis
pigmentosa (RP) that is designated" RP12" and is characterized by a preserved para …

Leber congenital amaurosis is a congenital retinal dystrophy described almost 150 years
ago. Today, Leber congenital amaurosis is proving instrumental in our understanding of the …

Absorption of light by rhodopsin or cone pigments in photoreceptors triggers
photoisomerization of their universal chromophore, 11-cis-retinal, to all-trans-retinal. This …

We isolated and characterized the entire coding sequence of a human gene encoding a
protein that interacts with RPGR, a protein that is absent or mutant in many cases of X-linked …

Membrane-integral adenylyl cyclases (ACs) are key enzymes in mammalian heterotrimeric
GTP-binding protein (G protein)–dependent signal transduction, which is important in many …

Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is
typically associated with extremely early onset of visual loss, nystagmus, and amaurotic …