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Cone Dystrophy

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to John Heckenlively, MD, Professor of Ophthalmology and Visual Sciences, University of Michigan, for assistance in the preparation of this report.

Synonyms of Cone Dystrophy

  • retinal cone degeneration
  • retinal cone dystrophy

Disorder Subdivisions

  • progressive cone dystrophy
  • stationary cone dystrophy

General Discussion

Cone dystrophy is a general term used to describe a group of rare eye disorders that affect the cone cells of the retina. Cone dystrophy can variably cause a variety of symptoms including decreased visual clarity (acuity) when looking straight ahead (central vision), a reduced ability to see colors and an increased sensitivity to light (photophobia). Cone dystrophy may be broken down into two broad groups - stationary and progressive. In stationary cone dystrophy symptoms tend to remain stable and are usually present at birth or early childhood. In progressive cone dystrophy symptoms slowly become worse over time. There are several different forms of cone dystrophy. The age of onset, progression and severity of cone dystrophy can vary greatly from one person to another, even among individuals with the same type of cone dystrophy. Some forms of cone dystrophy are inherited; other forms appear to occur spontaneously for no apparent reason (sporadically).

A variety of different and confusing names have been used to describe the various forms of cone dystrophy. Some researchers limit the term "cone dystrophy" to the progressive forms of the disorder. Other researchers use cone dystrophy as an umbrella term for both the stationary and progressive forms of cone dystrophy - examples of which include achromatopsia, incomplete achromatopsia, blue cone monochromatism, and X-linked progressive cone dystrophy. This report is a general overview report on stationary and progressive cone dystrophy. For more information on an individual form of cone dystrophy use the disorder's specific name as your search term in the Rare Disease Database or contact one of the organizations listed in the resources section of this report.

Cone Dystrophy Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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