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Genetic and Rare Diseases Information Center (GARD)

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Blue cone monochromatism


Other Names for this Disease
  • Achromatopsia incomplete X-linked
  • Atypical X-linked achromatopsia
  • BCM
  • Blue cone monochromacy
  • CBBM
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

  • 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
  • Achromatopsia incomplete X-linked
  • Atypical X-linked achromatopsia
  • BCM
  • Blue cone monochromacy
  • CBBM
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.