National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Kearns-Sayre syndrome


Other Names:
KSS; Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy; Oculocraniosomatic syndrome; KSS; Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy; Oculocraniosomatic syndrome; Ophthalmoplegia plus syndrome; Mitochondrial cytopathy; Ophthalmoplegia, progressive external, with ragged red fibers; Chronic progressive external ophthalmoplegia with myopathy; CPEO with myopathy; CPEO with ragged red fibers See More
Categories:
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
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Progressive external ophthalmoplegia 0000590
Third degree atrioventricular block
Complete heart block
0001709
30%-79% of people have these symptoms
Anterior hypopituitarism 0000830
Ataxia 0001251
EMG abnormality 0003457
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Muscular hypotonia
Low or weak muscle tone
0001252
Progressive intervertebral space narrowing 0004622
Ragged-red muscle fibers 0003200
Reduced tendon reflexes 0001315
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
5%-29% of people have these symptoms
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Percent of people who have these symptoms is not available through HPO
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Basal ganglia calcification 0002135
Cardiomyopathy
Disease of the heart muscle
0001638
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Diabetes mellitus 0000819
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Increased CSF protein 0002922
Lactic acidosis
Increased lactate in body
0003128
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Mitochondrial inheritance 0001427
Muscle weakness
Muscular weakness
0001324
Pigmentary retinopathy 0000580
Primary adrenal insufficiency 0008207
Ptosis
Drooping upper eyelid
0000508
Renal Fanconi syndrome 0001994
Renal tubular acidosis
Accumulation of acid in body due to kidney problem
0001947
Seizure 0001250
Sensorineural hearing impairment 0000407
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Sideroblastic anemia 0001924
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Last updated: 7/1/2020
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
Most cases of Kearns-Sayre syndrome are not inherited; they arise from mutations in the body's cells that occur after conception. This alteration, called a somatic mutation, is present only in certain cells. Rarely, this condition is inherited in a mitochondrial pattern. This pattern of inheritance, also known as maternal inheritance, refers to genetic alterations involving mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females. Males that are affected do not pass mitochondrial traits to their children.[4]
Last updated: 12/17/2014
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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include any disease caused by large mtDNA deletions or with an overlapping clinical picture, such as Pearson syndrome or maternally-inherited progressive external ophthalmoplegia.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My dad was diagnosed with Kearns-Sayre Syndrome in the 1980's. He copes well and is very independent. He went through genetic counseling while I was child and was told this mother was the carrier and once it hit a male the gene stopped. This was in the 80's. I am now married with 3 children of my own and I often wonder if this information is true. Is there any way that I could be a carrier? See answer

  • 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? See answer


  1. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. GeneReviews. May 3, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1203/.
  2. Kearns-Sayre Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 4, 2012; https://www.ninds.nih.gov/Disorders/All-Disorders/Kearns-Sayre-Syndrome-Information-Page.
  3. Facts about Mitochondrial Myopathies. Muscular Dystrophy Association (MDA). 2011; http://static.mda.org/publications/PDFs/FA-MITO.pdf.
  4. Kearns-Sayre syndrome. Genetics Home Reference (GHR). December 2011; http://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome.