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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kearns-Sayre syndrome


Other Names for this Disease
  • KSS
  • Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy
  • Oculocraniosomatic syndrome
  • Ophthalmoplegia plus syndrome
  • Mitochondrial cytopathy
Related Diseases
  • Mitochondrial DNA Deletion Syndromes
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I know a young man in Brazil who has Kearn-Sayre syndrome. Could you provide me with information about this condition? Are there treatment centers that specialize in treating individuals with Kearns-Sayre syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is 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).[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: 12/17/2014

What symptoms are associated with Kearns-Sayre syndrome?

Kearns-Sayre syndrome is characterized by progressive external ophthalmoplegia (PEO) and pigmentary retinopathy (a “salt-and-pepper” pigmentation in the retina that can affect vision, but often leaves it intact). These symptoms typically develop before 20 years of age.[1][3] At least one of the following must also be present: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia.[1]

Additional symptoms may include mild skeletal muscle weakness, short stature, hearing loss, impaired cognitive function, and diabetes mellitus. Seizures are infrequent. Several endocrine disorders can be associated with Kearns-Sayre syndrome, including delayed sexual maturation, hypothyroidism, and growth hormone deficiency.[1][2][3] 

Last updated: 12/17/2014

What causes Kearns-Sayre syndrome?

Kearns-Sayre syndrome is caused by defects in mitochondria, which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. People with Kearns-Sayre syndrome have a single, large deletion of mtDNA which results in the loss of genes important for mitochondrial formation and oxydative phosphorylation. While researchers have not determined how these deletions cause the features of Kearns-Sayre syndrome, they may be related to a lack of cellular energy The underlying cause of the deletion in affected individuals remains unknown.[4] 
Last updated: 12/17/2014

How might Kearns-Sayre syndrome be treated?

Treatment for Kearns-Sayre syndrome is generally symptomatic and supportive.[2] Management options include placement of cardiac pacemakers in individuals with cardiac conduction blocks, eyelid slings for severe ptosis, cochlear implants and hearing aids for neurosensory hearing loss, hormone replacement for endocrinopathies, dilation of the upper esophageal sphincter to alleviate cricopharyngeal achalasia, folinic acid supplementation in individuals with Kearns-Sayre syndrome with low cerebral spinal fluid folic acid, administration of coenzyme Q10 and L-carnitine, physical and occupational therapy, and treatment of depression. Antioxidants may ameliorate damage from reactive oxygen species; percutaneous endoscopic gastrostomy may improve nutritional intake and prevent aspiration pneumonia in individuals with severe dysphagia. Surveillance includes EKG and echocardiogram every six to 12 months and yearly audiometry and endocrinologic evaluation.[1]
Last updated: 12/17/2014

Are there hospitals or clinics that specialize in the treatment of Kearns-Sayre syndrome?

While there may not be clinics devoted specifically to Kearns-Sayre syndrome, there may be ways to locate specialists with experience with a range of neuromuscular disorders and/or mitochondrial disorders including Kearns-Sayre syndrome. Support and or advocacy organizations are one way to locate a specialist. Many disease advocacy organizations have medical advisory boards, physician locator services, or patient networks, all of which may help you find a healthcare professional who is familiar with a particular condition. To locate a list of support and or advocacy organizations for Kearns-Sayre syndrome, click here
Last updated: 6/28/2016

References
Other Names for this Disease
  • KSS
  • Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy
  • Oculocraniosomatic syndrome
  • Ophthalmoplegia plus syndrome
  • Mitochondrial cytopathy
Related Diseases
  • Mitochondrial DNA Deletion Syndromes
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.