Kearns–Sayre syndrome

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(Redirected from CPEO with myopathy)

Fundus of patient with retinitis pigmentosa, mid stage

Kearns–Sayre syndrome (KSS) is a rare neuromuscular disease caused by defects in the mitochondrial DNA. It is characterized by a triad of symptoms: progressive external ophthalmoplegia, pigmentary retinopathy, and onset before the age of 20. KSS is a subtype of mitochondrial myopathy.

Signs and Symptoms[edit | edit source]

The primary symptoms of Kearns–Sayre syndrome include:

Additional symptoms may include:

Causes[edit | edit source]

Kearns–Sayre syndrome is caused by deletions in the mitochondrial DNA (mtDNA). These deletions result in the loss of essential genes required for mitochondrial function. The condition is typically sporadic, meaning it usually occurs without a family history.

Diagnosis[edit | edit source]

Diagnosis of Kearns–Sayre syndrome is based on clinical evaluation, patient history, and genetic testing. Key diagnostic criteria include:

  • Presence of the triad of symptoms (ophthalmoplegia, pigmentary retinopathy, and onset before age 20).
  • Muscle biopsy showing ragged red fibers.
  • Genetic testing revealing deletions in the mitochondrial DNA.

Treatment[edit | edit source]

There is no cure for Kearns–Sayre syndrome, and treatment is primarily supportive and symptomatic. Management strategies include:

Prognosis[edit | edit source]

The prognosis for individuals with Kearns–Sayre syndrome varies. While some patients may experience a relatively stable course, others may have progressive symptoms leading to significant disability. Early diagnosis and management of symptoms can improve the quality of life.

Related Pages[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD