Mitochondrial Disorder: Kearns-Sayre Syndrome

  • Stephen H. Tsang
  • Alicia R. P. AycinenaEmail author
  • Tarun SharmaEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)


  • Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, renal disease, sensorineural deafness, and retinal involvement. The clinical abnormalities are heterogeneous, and they usually begin in childhood. Premature death occurs because of cardiac conduction defects.

  • The onset is usually before 20 years of age. The fundus shows pigmentary retinopathy, with a salt-and-pepper appearance (Fig. 30.1), but vision remains good in most patients.

  • Systemic involvement includes chronic progressive external ophthalmoplegia (CPEO), with ptosis being the most common complaint, and cardiomyopathy.

  • Other variable features are short stature; cerebellar symptoms; weakness of muscles of the face, pharynx, trunk, or extremities; and progressive hearing loss.

  • Full-field ERG does show evidence of generalized retinal dysfunction, involving both rods and cones.

  • Skeletal muscle biopsy shows ragged red fibers and abnormal mitochondria.


Mitochondrial disorder Kearns-Sayre syndrome KSS 

Suggested Reading

  1. Ortiz A, Arias J, Cárdenas P, Villamil J, Peralta M, Escaf LC, Ortiz J. Macular findings in spectral domain optical coherence tomography and OCT angiography in a patient with Kearns-Sayre syndrome. Int J Retina Vitreous. 2017;3:24.CrossRefGoogle Scholar
  2. Shemesh A, Margolin E. Kearns Sayre syndrome. Treasure Island: StatPearls Publishing; 2018.Google Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA
  3. 3.Department of Pediatrics, Division of GeneticsUniversity of California San FranciscoSan FranciscoUSA

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