Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 01-12-2015
Symbol RP66
Location 10q11.22
Name retinitis pigmentosa 66
Corresponding gene RBP3
Main clinical features
  • loss of central vision and onset of night blindness at 30-40 years of age
  • visual fields showed marked constriction with central scotoma
  • (ERGs) showed profound loss of rod and cone function, with ERG amplitudes so reduced that they could be detected only by computer averaging and narrow band-pass filtering
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)