Abstract cGMP controls many cellular functions ranging from growth, viability, and
differentiation to contractility, secretion, and ion transport. The mammalian genome encodes …

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 …

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 …

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 …

Over the 15 years since the original description, optical coherence tomography (OCT) has
become one of the key diagnostic technologies in the ophthalmic subspecialty areas of …

Mutations in CRB1, the human homolog of Drosophila Crumbs, cause autosomal recessive
blinding disorders of the retina. Whereas Crumbs is implicated in apical-basal epithelial …

Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of
childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind of …

Mutations in GUCY2D, the gene encoding retinal guanylate cyclase-1 (retGC1), are the
leading cause of autosomal dominant cone–rod dystrophy (CORD6). Significant progress …

The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal
recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the β subunit of …

Retinal guanylate cyclases 1 and 2 (GC1 and GC2) are responsible for synthesis of cyclic
GMP in rods and cones, but their individual contributions to phototransduction are unknown …