Because of a lapse in government funding, the information on this
website may not be up to date, transactions submitted via the
website may not be processed, and the agency may not be able to
respond to inquiries until appropriations are enacted. The NIH
Clinical Center (the research hospital of NIH) is open. For more
details about its operating status, please visit
cc.nih.gov. Updates
regarding government operating status and resumption of normal
operations can be found at
opm.gov.
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)
Entry Term(s)
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' 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
Previous Indexing
Heart Block (1966-1982)
Ophthalmoplegia (1966-1982)
Retinitis Pigmentosa (1966-1982)
Public MeSH Note
2010; see KEARNS-SAYER SYNDROME 2000-2009, see KEARNS SYNDROME 1991-2004, see OPHTHALMOPLEGIA 1983-1990
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)