Kearns-sayre syndrome

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Other Names :  

Oculocraniosomatic disorder, Oculocraniosomatic neuromuscular disorder

What is Kearns-sayre syndrome ?  

Kearns-sayre syndrome is characterized by isolated involvement of the muscles controlling the eyelid movement and those controlling eye movement. Bilateral pigmentary retinopathy and cardiac conduction abnormalities are also present along with other disorders.


Cause(s) :  
  • Occurs spontaneously in the majority of cases.
  • Evidence of inheritance through mitochondrial, autosomal dominant or autosomal recessive inheritance is seen.
Symptoms :  
  • Unilateral ptosis, difficulty in opening the eyelids, progressing to bilateral ptosis
  • Pigmentation of retina, primarily in the posterior fundus
  • Moderate nightblindness
  • Cardiac abnormalities - Atrioventricular block
  • Heart abnormalities like syncope, exercise intolerance and bradycardia
Rarely occurring symptoms:
  • Weakness of facial, pharyngeal, trunk and extremity muscles
  • Hearing loss
  • Small stature
  • Electroencephalographic changes
  • Cerebellar ataxia
  • Elevated levels of cerebrospinal fluid
Diagnosis and Tests :  
  • MRI
  • CT scan
  • Biopsy of ocular muscles - “ragged red fibers”
  • Biochemical analysis of muscle tissue
  • Analysis of muscle mitochondrial DNA
  • Clinical Examinations
Specialist to consult :  Neurology



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