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GENATLAS PHENOTYPE
last update : 20-12-2022
Symbol RCD6
Location 12p12.3
Name retinal cone dystrophy 6
Other name(s)
  • cone dystrophy with night blindness and supernormal rod responses
  • achromatopsia 6
  • retinal cone dystrophy 3A
  • Corresponding gene PDE6H
    Other symbol(s) RCD3A, ACHM6
    Main clinical features
  • lifelong visual loss combined with a supernormal ERG response to a bright flash of light, characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision, in the first or second decade of life; ophthalmoscopic findings consisted of an atrophic macular lesion
  • including cases with incomplete achromatopsia
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)