Kearns-Sayre Syndrome

Background and History: 

This disorder was first reported by Thomas P. Kearns, and George P. Sayre in 1958.  It has since been diagnosed in many families and has important ocular as well as systemic abnormalities.

Clinical Correlations: 

The major abnormalities in this disease are in the eyes, muscles, heart and brain.  The onset is usually by the end of the second decade and begins with droopy eyelids (ptosis) and difficulty moving the eyes.  Your eye doctor may notice changes in the pigmentation in the retina of the eye. 

Many patients are short in stature and a few may have developmental delays.  An important part of this disease is an abnormality of heart rhythm known as heart block.  Generalized muscle weakness involving face, swallowing and limbs are noted by some patients.  A mild hearing problem and unsteadiness may be present.  CT scans of the brain often reveal abnormalities throughout.  Serious renal disease with end stage failure has been reported.


This is a disorder caused by changes in the DNA of mitochondria which are little energy factories inside cells.  Since only the ovum transmits mitochondria to the fertilized cell, this disorder is commonly transmitted by females.  However, many cases occur in the absence of a family history.

Diagnosis and Prognosis: 

Kearns-Sayre syndrome can be diagnosed by an eye doctor but cardiologists and neurologists should be part of the diagnostic team.  It is a slowly progressive disorder but Coenzyme Q(10) has been found to benefit the heart and muscle problems.  Exercise may be beneficial for those with muscle weakness and a heart pacemaker may be necessary for severe heart rhythm problems.

Additional Information