Kearns-Sayer syndrome

Synonyms and Key Words: Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy,  Kearns' Syndrome,  Kearns-Sayre-Shy-Daroff Syndrome

Overview
Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of:


 * Chronic progressive external ophthalmoplegia
 * Cardiomyopathy with heart block
 * Retinitis pigmentosa

Diagnosis
Disease onset is in the first or second decade.

Diagnostic features include:
 * Elevated CSF protein
 * Sensorineural deafness
 * Seizures
 * Pyramidal signs
 * Ragged-red fibers are found on muscle biopsy.