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References OMIM Gene GeneReviews HGMD HGNC
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)