Orphanet: Search a disease

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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).


Classification level: Disorder
  • 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: -

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.