A neuromuscular disorder characterized by three
primary findings:
Progressive paralysis of certain eye muscles (chronic progressive external
ophthalmoplegia, or CPEO);
Abnormal accumulation of colored (pigmented) material on the retina (atypical
retinitis pigmentosa), leading to chronic inflammation and progressive degeneration
of the retina; and
Heart disease (cardiomyopathy) such as cardiac conduction defects and heart
block.
Other findings in the syndrome may include muscle weakness, short stature, hearing
loss, and the loss of ability to coordinate voluntary movements (ataxia) due to
problems in the part of the brain called the cerebellum.
Kearns-Sayre syndrome is one of the mitochondrial encephalomyopathies. These
disorders are due to defects in the DNA of the mitochondria, the cell structures
that produce energy. These defects cause the brain and muscles to function abnormally
(encephalomyopathy). In about 80% of cases of Kearns-Sayre syndrome, tests reveal
deletions in mitochondrial DNA (mtDNA).
There are many other names for the Kearns-Sayre syndrome including: CPEO with
myopathy; CPEO with ragged-red fibers; KSS; Mitochondrial cytopathy, Kearns-Sayre
type; Oculocraniosomatic syndrome; Ophthalmoplegia-plus syndrome; Ophthalmoplegia
with myopathy; and Ophthalmoplegia with ragged-red fibers.
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