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GENATLAS PHENOTYPE
last update : 20-03-2014
Symbol RP67
Location 1q32.3
Name retinitis pigmentosa 67
Corresponding gene NEK2
Main clinical features
  • night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions
  • visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated
  • Genetic determination
    Function/system disorder eye
    Type disease
    Remark(s)