Kearns-Sayre Syndrome

Kearns-Sayre Syndrome is a rare disorder caused by mitochondrial DNA mutations which can result in: 
  • Ptosis 
  • Progressive external opthalmoplegia 
  • Atypical retinal pigmentation 
  • Heart block
  • Muscle weakness 
  • Ataxia 

Diagnosis is by demonstrating ragged-red fibres on muscle biopsy  


References
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Sarah Hudson

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas.

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)