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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Blue cone monochromatism


Other Names for this Disease
  • Achromatopsia incomplete X-linked
  • BCM
  • CBBM
  • Color blindness blue mono cone monochromatic type
  • Incomplete achromatopsia X-linked
More Names
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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 Online Mendelian Inheritance in Man (OMIM) is an 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

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