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Diseases

Genetic and Rare Diseases Information Center (GARD)

Achromatopsia 2


Other Names for this Disease
  • ACHM2
  • Colorblindness, total
  • RMCH2
  • Rod monochromatism 2
  • Rod monochromacy 2
Related Diseases
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Overview

Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner.[1][2][3] Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.[2]
Last updated: 2/19/2016

References

  1. Achromatopsia. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/condition/achromatopsia.
  2. Susanne Kohl, BSc, MSc, PhD, Herbert Jägle, MD, FEBO, Dhabil, Prof, and Bernd Wissinger, BSc, MSc, PhD, Prof. Achromatopsia. GeneReviews. October 2015; http://www.ncbi.nlm.nih.gov/books/NBK1418.
  3. ACHROMATOPSIA 2. OMIM. September 2015; http://www.omim.org/entry/216900.
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Basic Information

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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Achromatopsia 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ACHM2
  • Colorblindness, total
  • RMCH2
  • Rod monochromatism 2
  • Rod monochromacy 2
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.