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GENATLAS PHENOTYPE
last update : 17-02-2012
Symbol CSNB2A
Location Xp11.23
Name blindness night congenital, stationary 2
Corresponding gene CACNA1F
Other symbol(s) CSNBX1
Main clinical features
  • incomplete form, associated with myopia, decreased visual acuity and persistence of slight rod function, including isolated retinal and optic disc atrophy
  • characterized by both a reduced rod b-wave and substantially reduced cone responses because of both ON- and OFF-bipolar cell dysfunction (PMID: 22325361))
    • Genetic determination sex linked
    Function/system disorder eye
    Type disease
    Gene product
    Name calcium voltage-gated channel alpha 1 subunit (CACNA1F)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion   truncated protein  
    frameshift   abnormal protein/loss of function in 60p100 of the patients
    missense   abnormal protein/loss of function alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels
    Remark(s)
    Genotype/Phenotype correlations I745T, through a gain-of-function mechanism involving increased Ca(v)1.4 channel activity causes a severe phenotype, with congenital nystagmus, severe nonprogressive impairment of visual acuity, frequent hypermetropia, and normal fundi