Kearns-Sayre Syndrome is a rare neuromuscular disease that primarily affects the eyes. The condition is mainly characterized by paralysis of certain eye muscles, abnormal accumulation of coloured or pigmented material on the membrane lining the eyes and degeneration of certain eye structures. There can also be a heart based disorder such as heart block. The symptoms usually show up after 20 years of age. There may also be kidney abnormalities or peripheral neuropathy.
HOW IS KEARNS-SAYRE SYNDROME DIAGNOSED?
Diagnosis of Kearns-Sayre Syndrome is based on symptoms and family history. A ophthalmologist conducts a thorough physical examination of the eye and evaluate your medical and family history. Specialized tests are conducted to confirm diagnosis. Heart blocks due to the disease can be detected through electrocardiogram. A muscle biopsy is conducted for detecting presence of deleted mtDNA
HOW IS KEARNS-SAYRE SYNDROME TREATED?
Treatment here would include check up with your doctor on a regular basis. In case of people who suffer from an acute blockage of the heart, some kind of devices like the pacemaker/implantable cardioverter-defibrillator are suggested of managing the problem. Surgery is an option but comes with high risks.
DID YOU KNOW?
Genetic counselling benefits those affected by Kearns-Sayre Syndrome and their families.