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?
Diagnosis of the KSS is done by an ophthalmology expert who would run tests for deletion of mtDNA. He/ she would also check for alterations in the skeletal muscle and the fibres here.
HOW IS KEARNS-SAYRE SYNDROME TREATED?
There is no specific treatment for Kearns-Sayre Syndrome and as a result, the effect of the syndrome worsens over time. In most of the cases, the Ophthalmologist recommends proper exercise to maintain the person’s muscle strength, and people suffering from Kearns-Sayre Syndrome need to be regularly monitored.
DID YOU KNOW?
Most cases of KSS are a result of spontaneous deletion of a large amount of genetic material found in the DNA of mitochondria (mtDNA). In most cases, the condition is inherited from the mother.