Exophthalmos in Kearns-Sayre syndrome

Jenna Tauber; Daniel J. Polla; Sunju Park

doi:10.1016/j.jaapos.2019.05.005

Exophthalmos in Kearns-Sayre syndrome

Jenna Tauber, Daniel J. Polla, Sunju Park

Ophthalmology & Visual Sciences

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	295-297
Number of pages	3
Journal	Journal of AAPOS
Volume	23
Issue number	5
DOIs	https://doi.org/10.1016/j.jaapos.2019.05.005
State	Published - Oct 2019

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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title = "Exophthalmos in Kearns-Sayre syndrome",

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.",

author = "Jenna Tauber and Polla, {Daniel J.} and Sunju Park",

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AB - 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.

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Exophthalmos in Kearns-Sayre syndrome

Abstract

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