Kearns-Sayre syndrome digital illustration

Kearns-Sayre syndrome Save

ICD-10 code: H49.81

Chapter: Diseases of the eye and adnexia

Kearns-Sayre Syndrome: Symptoms, Causes, and Treatment

Kearns-Sayre Syndrome (KSS) is a rare genetic disorder that affects various parts of the body, including the eyes, muscles, and heart. It usually develops before the age of 20 and is caused by mutations in the DNA of the mitochondria, which are the energy-producing structures within cells.

The symptoms of KSS vary from person to person and can include:

  1. Vision problems, such as progressive loss of vision, difficulty seeing at night, and drooping eyelids.
  2. Muscle weakness, especially in the face, arms, and legs.
  3. Hearing loss.
  4. Difficulty with balance and coordination.
  5. Heart problems, including conduction blocks and arrhythmias.

KSS is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. There is currently no cure for KSS, and treatment focuses on managing the symptoms and complications. This may include:

  1. Regular eye exams and corrective lenses or surgery to improve vision.
  2. Physical therapy and assistive devices to improve mobility.
  3. Hearing aids or cochlear implants to improve hearing.
  4. Pacemaker implantation or other interventions to manage heart problems.
  5. Supplements or medications to address nutritional deficiencies or other complications.

People with KSS may require ongoing medical care and support, and their prognosis depends on the severity and progression of their symptoms. It is important for individuals with KSS and their families to work closely with their healthcare providers to manage their condition effectively.

In conclusion, Kearns-Sayre Syndrome is a rare genetic disorder that affects multiple systems in the body. While there is no cure for KSS, treatment can help manage symptoms and improve quality of life. If you or someone you know has symptoms of KSS, it is important to seek medical evaluation and care.