The following information may help to address your question:
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
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