KEARNS SAYRE SYNDROME

Course overview

KEARNS-SAYRE SYNDROME (KSS) IS A SUBTYPE OF CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO). KSS IS DEFINED BY THE FOLLOWING TRIAD: ONSET BEFORE THE AGE OF 20, CPEO, AND PIGMENTARY RETINOPATHY. AFFECTED INDIVIDUALS HAVE AT LEAST 1 OF THE FOLLOWING CONDITIONS: COMPLETE HEART BLOCK, CEREBROSPINAL FLUID PROTEIN GREATER THAN 100MG/DL, CEREBELLAR ATAXIA, SHORT STATURE, DEAFNESS, DEMENTIA, AND ENDOCRINE ABNORMALITIES. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, ETIOLOGY, PRESENTATION, AND MANAGEMENT OF KEARNS-SAYRE SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN PROVIDING HIGH-QUALITY CARE TO AFFECTED PATIENTS.