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 Feb 2013

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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 Feb 2013

View Details

 

General Support Organizations

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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 37 free, full-text research articles on human participants. First 3 results:

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
 

Author(s): Monika Obara-Moszynska, Jaroslaw Maceluch, Waldemar Bobkowski, Artur Baszko, Oskar Jaremba, Maciej R Krawczynski, Marek Niedziela

Journal:

 

Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum.

Last Updated: 20 Mar 2013

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Kearns-Sayre syndrome presenting as isolated growth failure.
 

Author(s): Conisha Mone Holloman, Lynne A Wolfe, William A Gahl, Cornelius F Boerkoel

Journal:

 

Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. ...

Last Updated: 19 Feb 2013

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Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome.
 

Author(s): Aniket Puri, Akshyaya Pradhan, Gaurav Chaudhary, Vikas Singh, Rishi Sethi, Varun S Narain

Journal: Indian Heart J. ;64(5):515-7.

 

Kearns-Sayre syndrome (KSS) is a rare syndrome characterized by the triad of progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction system disturbances; it is a mitochondrial encephalomyopathy with which usually presents before the patient reaches the ...

Last Updated: 29 Oct 2012

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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

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Inherited Mitochondrial Disease, Including Leigh Syndrome

 

Last Updated: 19 Nov 2014

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