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GENATLAS PHENOTYPE
last update : 24-08-2011
Symbol RP60
Location 20q13
Name retinitis pigmentosa 60
Corresponding gene PRPF6
Main clinical features
  • decreased night vision and loss of peripheral vision between 20- 40 years
  • funduscopy revealed bilateral normal discs with atrophy just temporal to the disc, clear macula, attenuated retinal arterioles, and bone spicule pigment all around the periphery
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s) . mutation had an effect not only in spliceosomal composition but also in general pre-mRNA processing