Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

The first synapses transmitting visual information contain an unusual organelle, the ribbon,
which is involved in the transport and priming of vesicles to be released at the active zone …

Calcium-signaling in cells requires a fine-tuned system of calcium-transport proteins
involving ion channels, exchangers, and ion-pumps but also calcium-sensor proteins and …

Night blindness can result from impaired photoreceptor function and a subset of cases have
been linked to dysfunction of Cav1. 4 calcium channels and in turn compromised synaptic …

Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital
stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) …

Photoreceptor ribbon synapses are continuously active synapses with large active zones
that contain synaptic ribbons. Synaptic ribbons are anchored to the active zones and are …

Light-dependent conductance changes of voltage-gated Cav1. 4 channels regulate
neurotransmitter release at photoreceptor ribbon synapses. Mutations in the human …

Ribbon synapses are tonically active synapses in the retina and inner ear with intense
vesicle traffic. How this traffic is organized and regulated is still unknown. Synaptic ribbons …

Mutations in the human CACNA1F gene cause incomplete congenital stationary night
blindness type 2 (CSNB2), a non-progressive, clinically heterogeneous retinal disorder …

Changes in intracellular calcium ions [Ca2+] play important roles in photoreceptor signaling.
Consequently, intracellular [Ca2+] levels need to be tightly controlled. In the light-sensitive …