Exophthalmos in Kearns-Sayre syndrome

Jenna Tauber, Daniel J. Polla, Sunju Park

Research output: Contribution to journalArticle

Abstract

Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA (mtDNA) deletion syndrome that typically presents before 20 years of age and is characterized by chronic progressive external ophthalmoplegia, pigmentary retinopathy, and a combination of cardiac conduction defects, cerebellar ataxia, and elevated cerebrospinal fluid protein levels. The mtDNA defects interfere with oxidative phosphorylation and can affect a number of cellular energy processes in various organs. We report the case of a 15-year-old girl with KSS that was uniquely associated with bilateral, symmetrical exophthalmos.

Original languageEnglish (US)
Pages (from-to)295-297
Number of pages3
JournalJournal of AAPOS
Volume23
Issue number5
DOIs
StatePublished - Oct 2019

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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