Kearns-Sayre Syndrome
- PMID: 29493966
- Bookshelf ID: NBK482341
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.
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