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Diseases

Genetic and Rare Diseases Information Center (GARD)

Blue cone monochromatism


Other Names for this Disease
  • CBBM
  • BCM
  • Color blindness blue mono cone monochromatic type
  • X-chromosome-linked achromatopsia
  • Incomplete achromatopsia X-linked
Related Diseases
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Overview

Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present.[1] Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.[1][2]
Last updated: 11/13/2009

References

  1. Kohl S et al. Achromatopsia. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/books/NBK1418/. Accessed 11/4/2009.
  2. Ayyagari R et al. Blue Cone Monochromacy. In: Hollyfield JG, Anderson RE, LaVail MM. Retinal Degenerative Diseases and Experimental Therapy. Philadelphia, PA: Springer; 1999;
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Blue cone monochromatism. Click on the link to view a sample search on this topic.

Diagrams/Images

  • A diagram of the eye can be found by visiting MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions. Click on MedlinePlus to view the diagram.
Other Names for this Disease
  • CBBM
  • BCM
  • Color blindness blue mono cone monochromatic type
  • X-chromosome-linked achromatopsia
  • Incomplete achromatopsia X-linked
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.