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GENATLAS PHENOTYPE

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

Remark(s)