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Blue cone monochromatism

Disease definition

Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).

ORPHA:16

  • Synonym(s):
    • Atypical X-linked achromatopsia
    • Blue cone monochromacy
    • Color blindness, blue monocone monochromatic type
    • S cone monochromacy
    • S cone monochromatism
    • X-linked incomplete achromatopsia
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: H53.5
  • OMIM: 303700
  • UMLS: C0339537  C2931753
  • MeSH: C536238  C538165
  • GARD: 917
  • MedDRA: -

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