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:
Kearn-Sayre Mitochondrial Cytopathy; Kearns Sayre Syndrome; Kearns' Syndrome; Kearns-Sayre-Shy-Daroff Syndrome; Oculocraniosomatic Syndrome; Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy; Cytopathy, Kearn-Sayre Mitochondrial; Kearn Sayre Mitochondrial Cytopathy; Kearn Syndrome; Kearns Sayre Shy Daroff Syndrome; Mitochondrial Cytopathy, Kearn-Sayre; Oculocraniosomatic 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; Kearns Syndrome