Kearns-Sayre Syndrome

Excerpt

Kearns-Sayre syndrome (KSS) is a clinical 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 (CSF) protein of more than 100 mg/dL, cerebellar ataxia, short stature, deafness, dementia, and endocrine abnormalities.