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Kearns Sayre syndrome


Other Names for this Disease

  • Chronic progressive external ophthalmoplegia with myopathy
  • CPEO with myopathy
  • CPEO with ragged red fibers
  • KSS
  • Mitochondrial cytopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and-pepper" pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (PEO).[1][2][3] In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Kearns-Sayre syndrome is a mitochondrial DNA (mtDNA) deletion syndrome.[1] It results from abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. This and other mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body, resulting in multisystem effects. Treatment for this slowly progressive disorder is generally symptomatic and supportive.[2]



Last updated: 1/13/2009

References

  1. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. GeneReviews. April 19, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=kss. Accessed 1/13/2009.
  2. NINDS Kearns-Sayre Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 13, 2007; http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm. Accessed 1/13/2009.
  3. Facts about Mitochondrial Myopathies. Muscular Dystrophy Association (MDA). September 2008; http://www.mda.org/publications/mitochondrial_myopathies.html. Accessed 1/13/2009.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The 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 Kearns Sayre syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chronic progressive external ophthalmoplegia with myopathy
  • CPEO with myopathy
  • CPEO with ragged red fibers
  • KSS
  • Mitochondrial cytopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.