Kearns-Sayre Syndrome

Definition

Kearns-Sayre syndrome is a mitochondrial disease characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and heart block.

Symptoms

  • Progressive external ophthalmoplegia
  • Pigmentary retinopathy
  • Heart block
  • Ataxia

Reasons

mtDNA deletions.

Diagnosis

Muscle biopsy, ECG, genetic testing.

Treatment

Pacemaker, coenzyme Q10.

Which Polyclinic Should You Apply To?

Metabolism Polyclinic

What to Do in an Emergency?

In case of heart block, emergency services should be consulted.

This page is for general information purposes only.