Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of >12 million variants, …

We executed a genome-wide association scan for age-related macular degeneration (AMD)
in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH (P …

Disorders of vascular structure and function play a central role in a wide variety of CNS
diseases. Mutations in the Frizzled-4 (Fz4) receptor, Lrp5 coreceptor, or Norrin ligand cause …

Although biochemical experiments suggest that rhodopsin and other receptors coupled to
heterotrimeric guanosine triphosphate-binding proteins (G proteins) are inactivated by …

On bipolar cells are connected to photoreceptors via a sign-inverting synapse. At this
synapse, glutamate binds to a metabotropic receptor which couples to the closure of a cation-…

purpose. Mutations in the α 1F subunit of voltage-dependent calcium channels (VDCCs)
have been shown to cause incomplete congenital stationary night blindness (CSNB2). The …

There are currently no therapies to restore vision to patients blinded by photoreceptor
degeneration. This project concerns an experimental approach toward a semiconductor-based …

Neuronal pentraxins (NPs) define a family of proteins that are homologous to C-reactive and
acute-phase proteins in the immune system and have been hypothesized to be involved in …

Glutamate release from photoreceptor terminals is controlled by voltage-dependent calcium
channels (VDCCs). In humans, mutations in the Cacna1f gene, encoding the α1F subunit of …

Mutations in VMD2, encoding bestrophin (best-1), cause Best vitelliform macular dystrophy (BMD),
adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant …