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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cone-rod dystrophy 2


Other Names for this Disease
  • CORD2
  • Cone-rod retinal dystrophy 2
  • CRD2
  • Retinal cone-rod dystrophy 2
  • RCRD2
Related Diseases
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Overview

Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina. These cells process light and allow people to see the accurate shape and color of objects.[1] Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Severity of symptoms and rate of disease progression may vary; however, most individuals experience impaired color vision, blind spots, loss of peripheral vision, and night blindness by adulthood.[1][2][3] CORD2 is caused by mutations in the CRX gene and is inherited in an autosomal dominant manner.[2] Though future treatment options such as gene therapy show promise in research studies; management currently focuses on slowing down the disease process, treating the complications and helping individuals to cope with the social and psychological impact of blindness.[4][5]
Last updated: 5/10/2016

References

  1. cone-rod dystrophy. Genetics Home Reference. February 2016; https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy.
  2. Victor A. McKusick. CONE-ROD DYSTROPHY 2; CORD2. In: Marla J. F. O'Neill. OMIM. 4/5/2013; http://www.omim.org/entry/120970.
  3. Cone-Rod Retinal Dystrophy. Retina International. http://www.retina-international.org/eye-conditions/retinal-degenerative-conditions/rare-conditions/#ConeRod. Accessed 5/10/2016.
  4. C. Hamel. Cone rod dystrophy. Orphanet. 2/2007; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1843. Accessed 5/10/2016.
  5. Benjamin M. Nash, Dale C. Wright, John R. Grigg, Bruce Bennetts, Robyn V. Jamieson. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Translational Pediatrics. April 2015; 4(2):139-163. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729094/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cone-rod dystrophy 2. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.
  • 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 Cone-rod dystrophy 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CORD2
  • Cone-rod retinal dystrophy 2
  • CRD2
  • Retinal cone-rod dystrophy 2
  • RCRD2
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.