Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.

Abstract excerpt

Mutations in the CACNA1F gene (voltage-dependent L-type calcium channel alpha1F subunit) encoding retinal Ca(v)1.4 L-type Ca2+ channels cause X-linked recessive congenital stationary night blindness type 2 (CSNB2). Many of them are predicted to yield nonfunctional channels. Complete loss of Ca(v)1.4 function is therefore regarded as a pathogenetic mechanism for the impaired signaling from photoreceptors to...

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