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?
The diagnosis is based on the occurrence of the three primary characteristics related to the eyes. Diagnosis is confirmed through clinical evaluation and some specific tests. Electrocardiogram may help in identifying cardiac abnormalities. Muscle biopsy may be needed.
HOW IS KEARNS-SAYRE SYNDROME TREATED?
There is currently no effective way to treat mitochondrial abnormalities in KSS. Treatment is generally symptomatic and supportive. Management of KSS involves multiple specialties depending on the organs involved. The most essential is a regular and long-term follow-up with cardiologists. Conduction problems of heart impulse like heart block may be treated with a pacemaker. Other consultations may include audiology, ophthalmology, endocrinology, neurology, and neuropsychiatry. Hearing aids may be required. There is typically no treatment for limitation in eye movement. Endocrinology abnormalities can be treated with drugs.
DID YOU KNOW?
In some cases multiple organs are affected because of this disease, which invariably leads to decline of health.