A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness

Congenital stationary night blindness (CSNB) encom-passes a group of inherited, nonprogressive retinal disordersthat primarily affect night vision [1] and can be transmitted inautosomal recessive, autosomal dominant or X-linked modes[2-7]. The X-linked form of CSNB is frequently associatedwith myopia, nystagmus, decreased visual acuity, and occa-sionally strabismus [8-10]. Based on functional and clinicalinformation, Miyake et al. [11] divided X-linked CSNB intotwo types: complete (CSNB1) and incomplete (CSNB2).CSNB1 is characterized by normal to mildly subnormal conefunction and the complete absence of rod function. It is causedby mutations in the NYX gene, encoding aglycosylphosphatidylinositol (GPI)-anchored extracellularprotein [12,13]. CSNB2 patients retain measurable rod func-tion with significant impairment of cone function, yet havemutations in the Cacna1f gene, which encodes the α