Kearns-Sayre Syndrome

**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)

**Tree numbers:** - C05.651.460.700.500 - C10.292.562.750.250.500 - C10.597.622.447.511.500 - C10.668.491.500.700.500 - C11.590.472.250.500 - C11.768.585.658.500.627 - C14.280.238.510 - C18.452.660.560.700.500 - C23.550.291.500.688.500 - C23.888.592.636.447.511.500

**Synonyms:** - Ophthalmoplegia Plus Syndrome - Kearns' Syndrome - Chronic Progressive External Ophthalmoplegia with Myopathy - CPEO with Myopathy - CPEO with Ragged Red Fibers - Cpeo With Ragged-Red Fibers - Kearn-Sayre Mitochondrial Cytopathy - Kearns Sayre Syndrome - Kearns Syndrome - Kearns-Sayre-Shy-Daroff Syndrome - Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy - Ophthalmoplegia, Progressive External, With Ragged-Red Fibers - Ophthalmoplegia-Plus Syndrome - Oculocraniosomatic Syndrome - Kearns-Sayre Mitochondrial Cytopathy