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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-08-2020
Symbol CRSDS
Location 8q22.3
Name cone-rod synaptic disorder syndrome, congenital nonprogressive
Other name(s) incomplete congenital stationary night blindness
Corresponding gene RIMS2
Other symbol(s) ICSNB
Main clinical features
  • retinal and neurodevelopmental disease with low vision, photophobia, and nystagmus, and an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses
  • night blindness, photophobia, and nystagmus, and distinctive electroretinographic features, with abnormal glucose homeostasis observed in the eldest affected individual
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease