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GENATLAS PHENOTYPE

last update : 01-06-2016

Symbol	CSNB
Location	2q37.1
Name	blindness night congenital stationary, Oguchi type 1
Other name(s)	Oguchi disease
Corresponding gene	SAG
Main clinical features	congenital static night blindness and diffuse yellow or gray coloration of the fundus abnormal ERGs of reduced a-wave amplitudes and absent scotopic b-waves
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Gene product

Name	arrestin (SAG)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion		abnormal protein/loss of function	deletion of adenine at posituion 1147

Remark(s)