Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS) is a rare mitochondrial condition that affects multiple parts of the body. It is characterized by progressive weakness of the eye muscles (known as progressive external ophthalmoplegia) and changes in the retina (pigmentary retinitis). The condition typically appears before the age of 20 years. In addition to the eye and retina features, some people with KSS may experience hearing loss, problems with balance (cerebellar ataxia), and issues with heart rhythm, such as heart block. This summary provides a simple explanation of what KSS is and its common signs, helping to foster understanding about the condition.

People with Kearns-Sayre syndrome usually show signs such as weakness in the muscles that control eye movement (progressive external ophthalmoplegia) and changes in the retina that affect vision (pigmentary retinitis). Additional symptoms that may occur include hearing difficulties, problems with coordination (cerebellar ataxia), and heart rhythm disturbances, such as heart block.

Kearns-Sayre syndrome is a mitochondrial disease, which means it is related to problems in the mitochondria, the parts of cells that produce energy. While the exact genetic details are not provided here, the condition is linked to changes in mitochondrial function. Information about specific genes or inheritance patterns is not available in the current sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.