Other Names for this Disease
- Colorblindness, total
- Rod monochromatism 2
- Rod monochromacy 2
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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. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.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
Last updated: 2/19/2016
- Achromatopsia. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/condition/achromatopsia.
- 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.
- ACHROMATOPSIA 2. OMIM. September 2015; http://www.omim.org/entry/216900.
- Genetics Home Reference (GHR) contains information on Achromatopsia 2. This website is maintained by the National Library of Medicine.
- 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.
- 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.