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GENATLAS PHENOTYPE
last update : 01-12-2015
Symbol RP73
Location 8p11.2
Name retinitis pigmentosa 73
Corresponding gene HGSNAT
Main clinical features
  • night blindness and/or visual field loss as initial symptoms, onset in childhood or adolescence and diagnostic of RP in the fourth decade of life
  • visual fields showed peripheral constriction bilaterally, and ERGs showed severe generalized rod-cone dysfunction with an electronegative pattern
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)