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GENATLAS PHENOTYPE

last update : 23/12/2008

Symbol	ARRP2
Location	4p16.3
Name	retinitis pigmentosa autosomal recessive, 2
Corresponding gene	PDE6B
Main clinical features	characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment in the early stages, the fundus was characterized by a gray granular appearance in areas of focal thinning of retinal pigment epithelium, exposing the choroid as the disorder progressed, these areas became confluent
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Gene product

Name	phosphodiesterase, beta polypeptide (PDE6B)

Remark(s)