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Drooping Eyelids Plus

Chapter

Abstract

This is a case of a 17-year-old girl who presented with gradual onset ptosis, external ophthalmoplegia and pigmentary retinopathy. She was diagnosed with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder, which is defined by the triad: onset before 20 years of age, progressive external ophthalmoplegia and pigmentary retinopathy. It was caused by a single mitochondrial DNA deletion.

Keywords

Kearns-Sayre Syndrome Progressive external ophthalmoplegia Mitochondrial DNA deletion 

References

  1. DiMauro S, Hirano M. Mitochondrial DNA deletion syndromes. 2003 Dec 17 [Updated 2011 May 3]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle: University of Washington, Seattle; 1993.Google Scholar
  2. Pitceathly RD, Rahman S, Hanna MG. Single deletions in mitochondrial DNA -molecular mechanisms and disease phenotypes in clinical practice. NeuromusculDisord. 2012;22(7):577–86.Google Scholar

Copyright information

© Springer-Verlag London Ltd. 2017

Authors and Affiliations

  1. 1.UCL Institute of Child HealthLondonUK

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