Kearns–Sayre Syndrome: Symptoms, Causes, Diagnosis, and Treatment

1. Kearns–Sayre Syndrome Kearns-Sayre syndrome is generally inherited but not always, it can be caused due to mutations in the body’s cells that occur after conception. This is a chronic condition that is extremely rare in occurrence but has the potential to destruct vision and other body mechanisms. Diagnosis for Kearns–Sayre Syndrome 1. Lab test Blood lactate and pyruvate levels are generally tested through the blood drawn for testing which is generally increased in the case of KSS. 2. Biopsy Ocular muscle is not necessarily tested to demonstrate histopathologic abnormalities. Whereas, light microscopy is conducted at the cross sections of the muscles to analyze the condition. Symptoms of Kearns–Sayre Syndrome? The initial symptoms begin with difficulty in opening the eyelid that later progresses to a bilateral ptosis. 1. Pigmentary retinopathy This condition is also called as salt and pepper appearance where pigmentation of the retina occurs. 2. Cardiac conduction abnormalities Kearns–Sayre Syndrome causes cardiac conduction abnormalities after years of the occurrence of ptosis and ophthalmoplegia. 3. Other Symptoms ● The weakness of facial, pharyngeal, trunk, and extremity muscles ● Hearing loss ● Small stature ● Electroencephalographic changes ● Cerebellar ataxia ● Elevated levels of cerebrospinal fluid protein Click Here to Know About Treatment for Kearns–Sayre Syndrome?