Kearns-Sayer syndrome

Kearns-Sayer syndrome

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Synonyms: Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome

Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of:

• chronic progressive external ophthalmoplegia
• Cardiomyopathies with conduction block
• Retinitis pigmentosa

Disease onset is in the first or second decade.

• Elevated CSF protein
• sensorineural deafness
• seizures
• pyramidal signs may also be present
• Ragged-red fibers are found on muscle biopsy.