Kearns-Sayre syndrome, unspecified eye Save

What is Kearns-Sayre Syndrome?

Kearns-Sayre syndrome (KSS) is a rare, inherited disorder that affects the body's tissues and organs. It is characterized by muscle weakness, heart problems, and eye abnormalities. It can impact vision, movement, and other bodily functions. KSS is caused by a mutation in the mtDNA gene. This gene is responsible for creating the energy needed for cells to function properly. The condition is usually diagnosed in early childhood.

One of the main features of Kearns-Sayre syndrome is unspecified eye abnormalities. Early signs include vision problems such as blurred vision, double vision, or even blindness. As the condition progresses, the eyes can become inflamed and the retina can become detached. In some cases, cataracts or corneal opacity can occur. Other issues that can affect the eyes include glaucoma, optic neuritis, and strabismus.

Kearns-Sayre syndrome can cause other complications as well. These include muscle weakness, heart problems, respiratory issues, and problems with coordination. It can also lead to learning difficulties, hearing loss, and seizures.

There is no cure for Kearns-Sayre syndrome, but there are treatments available to manage the symptoms. These include physical therapy to help with movement, medications to help with vision problems, and surgery to repair the eye abnormalities.

Conclusion

Kearns-Sayre syndrome is a rare, inherited disorder that affects the body's tissues and organs. One of the main features of the condition is unspecified eye abnormalities, which can lead to vision problems, inflammation, and even blindness. There is no cure for KSS, but there are treatments available to manage the symptoms.