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HEREDITARY MONOGENIC DISEASES

           

Congenital stationary night blindness 1C

Congenital nocturnal stationary blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. The genes involved in the different forms of CSNB code for proteins which participate in the phototransduction cascade and which are important in retinal signaling from photoreceptors to adjacent nerve bipolar cells.

Most patients with mutations in these genes show a characteristic electroretinogram (ERG).

The TRPM1 gene encodes a cation channel that is present in the membrane of ON bipolar neurons, which is involved in the response of these cells to the signals of retinal rods; Therefore, mutations in this gene can cause a deficiency in signaling and therefore in the activation of bipolar neurons, leading to the development of congenital nocturnal stationary type 1C blindness.

GENE OR REGION STUDIED


  • TRPM1