Kozak I, Oystreck DT, Abu-Amero KK, et al. New observations regarding the retinopathy of genetically confirmed Kearns-Sayre syndrome. Retin Cases Brief Rep. 2016 Dec 19. [QxMD MEDLINE Link].
Groh WJ, Bhakta D, Tomaselli GF, et al. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022 Oct. 19 (10):e61-e120. [QxMD MEDLINE Link]. [Full Text].
Lopriore P, Ricciarini V, Siciliano G, Mancuso M, Montano V. Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity. Neurol Int. 2022 Apr 2. 14 (2):337-56. [QxMD MEDLINE Link]. [Full Text].
Berio A, Piazzi A. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. Pediatr Med Chir. 2013 May-Jun. 35 (3):137-40. [QxMD MEDLINE Link].
Shemesh A, Margolin E. Kearns-Sayre Syndrome. StatPearls. 2023 Jul 17. [QxMD MEDLINE Link]. [Full Text].
Khambatta S, Nguyen DL, Beckman TJ, Wittich CM. Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med. 2014. 7:325-32. [QxMD MEDLINE Link].
Lee SJ, Na JH, Han J, Lee YM. Ophthalmoplegia in Mitochondrial Disease. Yonsei Med J. 2018 Dec. 59 (10):1190-6. [QxMD MEDLINE Link]. [Full Text].
Bosbach S, Kornblum C, Schroder R, Wagner M. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Brain. 2003 May. 126(Pt 5):1231-40. [QxMD MEDLINE Link]. [Full Text].
Jackson MJ, Schaefer JA, Johnson MA, Morris AA, Turnbull DM, Bindoff LA. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain. Apr 1995. 118 (Pt 2):339-57. [QxMD MEDLINE Link].
Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 1989 May 18. 320(20):1293-9. [QxMD MEDLINE Link].
Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf). 1992 Jul. 37(1):97-103. [QxMD MEDLINE Link].
Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature. Apr 1981. 290(5806):457-65. [QxMD MEDLINE Link].
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for humanmitochondrial DNA. Nat Genet. Oct 1999. 23(2):147. [QxMD MEDLINE Link].
Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med. Aug 2002. 347(8):576-80. [QxMD MEDLINE Link].
Lin YF, Schulz AM, Pellegrino MW, Lu Y, Shaham S, Haynes CM. Maintenance and propagation of a deleterious mitochondrial genome by the mitochondrial unfolded protein response. Nature. 2016 May 19. 533 (7603):416-9. [QxMD MEDLINE Link]. [Full Text].
OMIM. Kearns-Sayre syndrome. Online Mendelian Inheritance in Man Web site. Available at http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?530000. Accessed: April 7, 2009.
Goldstein A, Falk MJ, Adam MP, et al. Mitochondrial DNA Deletion Syndromes. GeneReviews. Updated 2019 Jan 31. [QxMD MEDLINE Link]. [Full Text].
Chinnery PF, DiMauro S, Shanske S, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet. 2004 Aug 14-20. 364(9434):592-6. [QxMD MEDLINE Link].
Lopez-Gallardo E, Lopez-Perez MJ, Montoya J, Ruiz-Pesini E. CPEO and KSS differ in the percentage and location of the mtDNA deletion. Mitochondrion. 2009 Sep. 9(5):314-7. [QxMD MEDLINE Link].
Remes AM, Majamaa-Voltti K, Karppa M, et al. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology. Mar/2005. 64(6):976-81. [QxMD MEDLINE Link].
Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol. Jan 2008. 63(1):35-9. [QxMD MEDLINE Link].
Imamura T, Sumitomo N, Muraji S, et al. The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles. Int J Cardiol. 2019 Mar 15. 279:105-11. [QxMD MEDLINE Link].
Wiseman K, Gor D, Udongwo N, et al. Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019. Pacing Clin Electrophysiol. 2022 Dec. 45 (12):1357-63. [QxMD MEDLINE Link].
Saneto RP, Friedman SD, Shaw DW. Neuroimaging of mitochondrial disease. Mitochondrion. Dec 2008. 8(5-6):396-413. [QxMD MEDLINE Link].
Chu BC, Terae S, Takahashi C, et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology. 1999 Oct. 41(10):759-64. [QxMD MEDLINE Link].
Pasquini L, Guarnera A, Rossi-Espagnet MC, et al. Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study. Neuroradiology. 2020 Oct. 62 (10):1315-21. [QxMD MEDLINE Link]. [Full Text].
Anan R, Nakagawa M, Miyata M, et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation. 1995 Feb 15. 91(4):955-61. [QxMD MEDLINE Link]. [Full Text].
Filosto M, Tomelleri G, Tonin P, et al. Neuropathology of mitochondrial diseases. Biosci Rep. Jun 2007. 27(1-3):23-30. [QxMD MEDLINE Link].
Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye. 1999 Dec. 13 ( Pt 6):769-72. [QxMD MEDLINE Link].
Sebastia R, Fallico E, Fallico M, Fortuna E, Lessa S, Neto GH. Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. Clin Ophthalmol. 2015. 9:25-31. [QxMD MEDLINE Link]. [Full Text].
Weitgasser L, Wechselberger G, Ensat F, Kaplan R, Hladik M. Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. Arch Plast Surg. 2015 Mar. 42 (2):214-7. [QxMD MEDLINE Link]. [Full Text].
Kornblum C, Broicher R, Walther E, et al. Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions. Neurology. May 2001. 56(10):1409-12. [QxMD MEDLINE Link].
Pijl S, Westerberg BD. Cochlear implantation results in patients with Kearns-Sayre syndrome. Ear Hear. 2008 Jun. 29(3):472-5. [QxMD MEDLINE Link].
Zhu CC, Traboulsi EI, Parikh S. Ophthalmological findings in 74 patients with mitochondrial disease. Ophthalmic Genet. 2017 Jan-Feb. 38 (1):67-9. [QxMD MEDLINE Link].
Pineda M, Ormazabal A, Lopez-Gallardo E, et al. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol. Feb 2006. 59(2):394-8. [QxMD MEDLINE Link].
Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in the pathogenesis of human disease. Mol Med Today. 2000 Nov. 6(11):425-32. [QxMD MEDLINE Link].
S DiMauro, M Hirano. Mitochondrial DNA Deletion Syndromes. GeneReviews. Available at http://www.ncbi.nlm.nih.gov/books/NBK1203/. Accessed: 1/4/09.
Finsterer J, Haberler C, Schmiedel J. Deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia. Clin Neuropharmacol. 2005 May-Jun. 28(3):148-9. [QxMD MEDLINE Link].
Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand. Oct 2006. 114(4):217-38. [QxMD MEDLINE Link].
Aure K, Ogier de Baulny H, Laforet P, Jardel C, Eymard B, Lombes A. Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?. Brain. Jun 2007. 130(Pt 6):1516-24. [QxMD MEDLINE Link].
Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V. Disease progression in patients with single, large-scale mitochondrial DNA deletions. Brain. 2013 Nov 25. [QxMD MEDLINE Link].
Mitochondrial DNA defects. The Rare Mitochondrial Disease Service for Adults and Children. Available at http://www.mitochondrialncg.nhs.uk/pa-adviceforwomen.html. Accessed: May 6, 2012.