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GENATLAS PHENOTYPE
last update : 21-12-2022
Symbol CSNB3
Location 4p16.3
Name blindness night congenital, stationary 3
Other name(s) night blindness, congenital stationary, autosomal dominant 2
Corresponding gene PDE6B
related resource Retinal Information Network
Other symbol(s) CSNBAD2
Main clinical features
  • lack of night vision , with normal day vision
  • dark adaptation curves were monophasic, due to the absence of the rod phase
  • rod responses following full-field single-flash stimulation with a dim blue light were absent, while mixed cone-rod responses to white suprathreshold stimuli were strongly attenuated
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name rod photoreceptor phosphodiesterase B defect dominant (PDE6B)
    Remark(s)