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”
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