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)
Also Known As:
CPEO with Myopathy; CPEO with Ragged Red Fibers; Chronic Progressive External Ophthalmoplegia with Myopathy; Cpeo With Ragged-Red Fibers; Kearn-Sayre Mitochondrial Cytopathy; Kearns Sayre Syndrome; Kearns' Syndrome; Kearns-Sayre Mitochondrial Cytopathy; Kearns-Sayre-Shy-Daroff Syndrome; Oculocraniosomatic Syndrome; Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy; Ophthalmoplegia, Progressive External, With Ragged-Red Fibers; Ophthalmoplegia-Plus Syndrome; CPEO with Myopathies; Cytopathies, Kearns-Sayre Mitochondrial; Cytopathy, Kearn-Sayre Mitochondrial; Cytopathy, Kearns-Sayre Mitochondrial; Kearn Sayre Mitochondrial Cytopathy; Kearn Syndrome; Kearns Sayre Mitochondrial Cytopathy; Kearns Sayre Shy Daroff Syndrome; Kearns-Sayre Mitochondrial Cytopathies; Mitochondrial Cytopathies, Kearns-Sayre; Mitochondrial Cytopathy, Kearn-Sayre; Mitochondrial Cytopathy, Kearns-Sayre; Myopathies, CPEO with; Myopathy, CPEO with; Oculocraniosomatic Syndromes; Ophthalmoplegia Plus Syndromes; Ophthalmoplegia-Plus Syndromes; Sayre Syndrome, Kearns; Syndrome, Kearns; Syndrome, Kearns Sayre; Syndrome, Kearns'; Syndrome, Kearns-Sayre; Syndrome, Kearns-Sayre-Shy-Daroff; Syndrome, Oculocraniosomatic; Syndrome, Ophthalmoplegia Plus; Syndrome, Ophthalmoplegia-Plus; Syndromes, Ophthalmoplegia-Plus; Kearns Syndrome