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

OMIM: Kearns-Sayre Syndrome. Available at http://omim.org/entry/530000?search=kearns-sayre&highlight=kearnssayre 

Park, S. et al. Kearns-Sayre syndrome -3 case reports and review of clinical feature. Yonsei Med J. 2004; 45(4): 727-735.

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