Photoreceptors in the retina are highly specialized neurons with photosensitive molecules in
the outer segment that transform light into chemical and electrical signals, and these signals …

Calcium plays important roles in the function and survival of rod and cone photoreceptor
cells. Rapid regulation of calcium in the outer segments of photoreceptors is required for the …

Massive parallel sequencing enables identification of numerous genetic variants in mutant
organisms, but determining pathogenicity of any one mutation can be daunting. The most …

Retinitis pigmentosa (RP) encompasses a diverse group of Mendelian disorders leading to
progressive degeneration of rods and then cones. For reasons that remain unclear …

The rd1 natural mutant is one of the first and probably the most commonly studied mouse
model for retinitis pigmentosa (RP), a severe and frequently blinding human retinal …

Cyclic-GMP is a second messenger in phototransduction, a G-protein signaling cascade that
conveys photon absorption by rhodopsin to a change in current at the rod photoreceptor …

Photoreceptor degeneration is the hallmark of several groups of inherited
neurodegenerative diseases causing blindness in humans. These diseases are a major …

Photoreceptor cyclic nucleotide-gated (CNG) channels play a pivotal role in
phototransduction. Mutations in the cone CNG channel subunits CNGA3 and CNGB3 are …

Mutations in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1). GUCY2D
encodes retinal guanylate cyclase-1 (retGC1), a protein expressed exclusively in outer …

Zebrafish are an excellent animal model for research on vertebrate development and human
diseases. Sophisticated genetic tools including large-scale mutagenesis methodology make …