Kearns-Sayre syndrome, bilateral Save

What is Kearns-Sayre Syndrome, Bilateral?

Kearns-Sayre Syndrome, Bilateral is a genetic disorder characterized by the degeneration of the muscles in both eyes. It is caused by a mutation in the genes that are responsible for the production of proteins that are essential for the functioning of the muscles. This disorder is also known as chronic progressive external ophthalmoplegia (CPEO) and is classified as a mitochondrial myopathy.

The main symptom of Kearns-Sayre Syndrome, Bilateral is the weakening of the muscles in both eyes, resulting in drooping of the eyelids, double vision, and an inability to move the eyes up or down. The disorder may also cause vision loss, particularly in the peripheral part of the vision. In some cases, it can also cause hearing and balance problems.

Kearns-Sayre Syndrome, Bilateral is inherited in an autosomal recessive manner, meaning both parents must carry the mutated gene for the child to be affected. The disorder is quite rare and is estimated to affect around 1 in every 100,000 people.

Diagnosis of Kearns-Sayre Syndrome, Bilateral is typically made based on symptoms and a physical examination. Other tests, such as a genetic test or an electroretinogram, may also be used to confirm the diagnosis.

Living with Kearns-Sayre Syndrome, Bilateral can be difficult, but with proper management and support, individuals can live a full and meaningful life. It is important to stay active and maintain a healthy lifestyle. Regular eye examinations are also recommended to monitor the progression of the disease.

Kearns-Sayre Syndrome, Bilateral is a rare disorder that affects both eyes. It is caused by a mutation in the genes responsible for the production of proteins essential for the functioning of the muscles. The main symptom is the weakening of the muscles in both eyes, resulting in drooping of the eyelids, double vision, and an inability to move the eyes up or down. Diagnosis is typically made based on symptoms and a physical examination, and living with the disorder can be difficult but with proper management and support, individuals can live a full and meaningful life.