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Achromatopsia

Disease definition

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

ORPHA:49382

  • Synonym(s):
    • ACHM
    • Complete or incomplete color blindness
    • Pingelapese blindness
    • Rod monochromacy
    • Rod monochromatism
    • Total color blindness
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H53.5
  • OMIM: 216900  262300  610024  613093  613856  616517
  • UMLS: C0152200
  • MeSH: -
  • GARD: -
  • MedDRA: 10000454

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