Kearns-Sayre syndrome is generally inherited but not always, it can be caused due to mutations in the body’s cells that occur after conception.

1. Kearns–Sayre Syndrome
Kearns-Sayre syndrome is generally inherited but not
always, it can be caused due to mutations in the body’s
cells that occur after conception. This is a chronic condition
that is extremely rare in occurrence but has the potential to
destruct vision and other body mechanisms.
Diagnosis for Kearns–Sayre Syndrome
1. Lab test
Blood lactate and pyruvate levels are generally tested through the
blood drawn for testing which is generally increased in the case of
KSS.
2. Biopsy
Ocular muscle is not necessarily tested to demonstrate histopathologic
abnormalities. Whereas, light microscopy is conducted at the cross
sections of the muscles to analyze the condition.
Symptoms of Kearns–Sayre Syndrome?
The initial symptoms begin with difficulty in opening the eyelid that later
progresses to a bilateral ptosis.
1. Pigmentary retinopathy
This condition is also called as salt and pepper
appearance where pigmentation of the retina occurs.
2. Cardiac conduction abnormalities
Kearns–Sayre Syndrome causes cardiac conduction
abnormalities after years of the occurrence of ptosis
and ophthalmoplegia.
3. Other Symptoms
● The weakness of facial, pharyngeal,
trunk, and extremity muscles
● Hearing loss
● Small stature
● Electroencephalographic changes
● Cerebellar ataxia
● Elevated levels of cerebrospinal fluid
protein
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