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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cone dystrophy


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Overview

Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light.[1] There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy.[1] Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.[2]
Last updated: 7/1/2013

References

  1. Cone Dystrophy. NORD. 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract. Accessed 6/19/2013.
  2. Simunovic, M.P., Moore, A.T. The cone dystrophies. Royal College of Ophthalmologists. 1998; http://www.nature.com/eye/journal/v12/n3b/pdf/eye1998145a.pdf. Accessed 6/19/2013.
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Basic Information

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.
  • 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 Cone dystrophy. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.