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Kearns-Sayre syndrome
rareKearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
- Identifiers
- MONDO:0010787 OMIM:530000Orphanet:480
- Part of
- Disorder of visual systemFamilial dilated cardiomyopathyHereditary peripheral neuropathyMitochondrial oxidative phosphorylation disorderProgressive external ophthalmoplegiaSyndromic disease
- Also known as
- CPEO with ragged red fibers · CPEO with ragged red fibres · CPEO with ragged-Red fibres · KSS · ophthalmoplegia plus syndrome
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