Kearns-Sayer Syndrome

Synonym(s) - Kearns Syndrome - Kearn-Sayre Mitochondrial Cytopathy - Kearns-Sayre-Shy-Daroff Syndrome - Cytopathy, Kearn-Sayre Mitochondrial - Mitochondrial Cytopathy, Kearn-Sayre

Definition: A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

Broader term(s)

• Musculoskeletal Diseases
• Muscular Diseases
• Mitochondrial Myopathies
• Ophthalmoplegia, Chronic Progressive External
• Kearns-Sayer Syndrome