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Concept information

disease > metabolic diseases > mitochondrial myopathy > Kearns-Sayre syndrome
disease > congenital disease > mitochondrial myopathy > Kearns-Sayre syndrome
disease > enzymopathy > mitochondrial myopathy > Kearns-Sayre syndrome
disease > eye disease > oculomotor syndrome > ophthalmoplegia > Kearns-Sayre syndrome
... > disease > eye disease > retinopathy > retinitis > retinitis pigmentosa > Kearns-Sayre syndrome

Preferred term

Kearns-Sayre syndrome  

Definition(s)

  • Kearns–Sayre syndrome (KSS) is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-HZGF302P-4

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