Kearns-Sayre Syndrome (definition)

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Kearns-Sayre Syndrome

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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)

Other names Kearns Syndrome; Syndrome, Ophthalmoplegia Plus; Syndrome, Oculocraniosomatic; Syndrome, Kearns-Sayre-Shy-Daroff; Syndrome, Kearns-Sayre; Syndrome, Kearns'; Syndrome, Kearns Sayre; Syndrome, Kearns; Sayre Syndrome, Kearns; Ophthalmoplegia Plus Syndromes; Oculocraniosomatic Syndromes; Myopathy, CPEO with; Myopathies, CPEO with; Mitochondrial Cytopathy, Kearn-Sayre; Kearns Sayre Shy Daroff Syndrome; Kearn Syndrome; Kearn Sayre Mitochondrial Cytopathy; Cytopathy, Kearn-Sayre Mitochondrial; CPEO with Myopathies; Ophthalmoplegia, Pigmentary Degeneration of Retina

Substance	CAS Registry & name	Categories	Source
Mitochondrial cytopathy	0	Kearns-Sayre Syndrome Mitochondrial Myopathies.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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