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GENATLAS PHENOTYPE
last update : 11-03-2016
Symbol CSNB1B
Location 5q35.3
Name blindness night congenital, stationary 1B, Schubert-Bornschein type
Corresponding gene GRM6
Other symbol(s) CSNB9
Main clinical features
  • night blindness and myopia, with electronegative ERG, and with a distinctive scotopic 15-Hz flicker electroretinogram; maximal dark-adapted response showed both a reduced a-wave and a markedly reduced b-wave
  • complete type is associated with a drastically reduced rod b-wave response because of ON-bipolar cell dysfunction but largely normal cone b-wave amplitudes (PMID: 22325361))
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name glutamate receptor, metabotropic 6
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   unknown  
    Remark(s)
  • mutations leading to disruption of the ON-bipolar cell response, and to complete CSNB (PMID: 22325361))