Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. It is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes
HOW IS KEARNS-SAYRE SYNDROME DIAGNOSED?
There are two tests that may be performed should a diagnosis of Kearns-Sayre syndrome be suspected. The first involves checking the lactate and protein levels in the person's cerebrospinal fluid. The other test involves examining a biopsy of the person's muscle in order to see if the DNA in their mitochondria is abnormal.
HOW IS KEARNS-SAYRE SYNDROME TREATED?
Treatment of Kearns-Sayre Syndrome involves placing a pacemaker for improving heart function. Visual problems are corrected through surgery
DID YOU KNOW?
Kearns-Sayre syndrome is also known by the following names:
• CPEO with Myopathy
• Kearns-Sayre Disease
• Oculocraniosomatic Syndrome
• CPEO with Ragged-Red Fibers
• Ophthalmoplegia Plus Syndrome
• Mitochondrial Cytopathy, Kearn-Sayre Type
• Chronic Progressive External Ophthalmoplegia and Myopathy
• Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers
• Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cardiomyopathy