Kearns-Sayre Syndrome

Common Name(s)

Kearns-Sayre Syndrome, Kearns Sayre syndrome

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). 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kearns-Sayre Syndrome" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kearns-Sayre Syndrome" for support, advocacy or research.

United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kearns-Sayre Syndrome" returned 45 free, full-text research articles on human participants. First 3 results:

Peripheral Nerve Block is Safely Administered in a Patient with Kearns-Sayre Syndrome.
 

Author(s): Woo-Jin Kwon, Seung-Uk Bang, Sae-Cheol Oh, Jung-Woo Shim

Journal: Chin. Med. J.. 2016 May;129(10):1251-2.

 

Last Updated: 13 May 2016

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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
 

Author(s): Pilar Quijada-Fraile, Mar O'Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin, Aida Ormazabal, Mercè Pineda, María T García-Silva, Rafael Artuch

Journal:

 

Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion that folinic acid therapy might be useful in the treatment of KSS patients. Our aim was to assess the ...

Last Updated: 28 Apr 2015

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[Kearns-Sayre syndrome: ophthalmic manifestations].
 

Author(s): M Bande Rodriguez, S Pose Bazarra, A Treus Suarez, M Abraldes Lopez-Veiga, M I Fernandez Rodriguez, M J Rodriguez Cid

Journal: An Pediatr (Barc). 2015 Jan;82(1):e151-3.

 

The clinical case and genetic diagnosis of Kearns-Sayre syndrome (KSS) is described in a young patient. The findings included: ptosis, ocular motility disturbances, pigmentary retinopathy, as well as mitral insufficiency. A muscle biopsy revealed mitochondrial cytopathyand heteroplasmic ...

Last Updated: 2 Jan 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Kearns-Sayre Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 21 Mar 2016

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 30 Jan 2017

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