Causes and risk factors
Kearns-Sayre syndrome is an inherited disorder caused due to genetic mutation.
Clinical presentation
The hallmark of this disorder is chronic progressive external ophthalmoplegia. The patient develops other ocular symptoms such as ptosis, i.e., drooping of the eyelids and pigmentary retinopathy.
This disorder is associated with numerous other symptoms affecting most of the body parts. Bilateral deafness is a common phenomenon. The central nervous system is severely affected giving rise to a plethora of symptoms ranging from problems with intellect to cerebellar ataxia. Other body systems such as the endocrine, the GIT, the renal system and the skeletal system are also severely affected. Cardiac involvement occurs commonly in the form of heart block or cardiomyopathy.
Investigations
Kearns-Sayre syndrome can be confirmed on the basis of characteristic signs found on the microscopic examination of the affected body tissues. The tissue shows characteristic ‘ragged fibers.’ CSF examination may show high levels of protein.
Treatment
Being a genetic disorder, Kearns-Sayre syndrome cannot be cured. Only supportive treatment is available depending upon the patient’s symptoms. It may include the use of pacemakers, hearing aids, or even surgery.
Other modes of treatment
Coenzyme Q10 supplementation may prove beneficial in these patients.
Complications
Kearns-Sayre syndrome produces several complications in the heart, nervous system, and other body systems.
When to contact a doctor
Contact a doctor as soon as you experience any unusual symptoms such as vision defects, hearing problems, gait abnormalities, etc.
Systems involved
Ophthalmic, cardiac, skeletal, endocrine, GIT, urinary
Organs involved
Eye, brain, skeletal muscle, intestines, kidney
