Other Names for this Disease
- Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy
- Oculocraniosomatic syndrome
- Ophthalmoplegia plus syndrome
- Mitochondrial cytopathy
- Mitochondrial DNA Deletion Syndromes
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progressive external ophthalmoplegia (PEO). 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. 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.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
Last updated: 12/17/2014
- DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. GeneReviews. May 3, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1203/. Accessed 12/17/2014.
- NINDS Kearns-Sayre Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 4, 2012; http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm. Accessed 12/17/2014.
- Facts about Mitochondrial Myopathies. Muscular Dystrophy Association (MDA). December 2009; http://static.mda.org/publications/PDFs/FA-MITO.pdf. Accessed 12/17/2014.
- Genetics Home Reference (GHR) contains information on Kearns-Sayre syndrome. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Kearns-Sayre syndrome. Click on the link to view a sample search on this topic.