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Book

Kearns-Sayre Syndrome

In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Kearns-Sayre Syndrome

Ari Shemesh et al.
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Excerpt

Kearns-Sayre syndrome (KSS) is a clinical subtype of chronic progressive external ophthalmoplegia (CPEO).

KSS is defined by the following triad: onset before the age of 20, CPEO, and pigmentary retinopathy. Affected individuals have at least 1 of the following conditions: complete heart block, cerebrospinal fluid (CSF) protein of more than 100 mg/dL, cerebellar ataxia, short stature, deafness, dementia, and endocrine abnormalities.

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Conflict of interest statement

Disclosure: Ari Shemesh declares no relevant financial relationships with ineligible companies.

Disclosure: Edward Margolin declares no relevant financial relationships with ineligible companies.

References

    1. Koka K, Patel BC. StatPearls [Internet] StatPearls Publishing; Treasure Island (FL): 2023. Jul 10, Ptosis Correction. - PubMed
    1. Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, Chowers I, Banin E, Sharon D, Khateb S. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Acta Ophthalmol. 2019 Sep;97(6):e877-e886. - PMC - PubMed
    1. Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet] University of Washington, Seattle; Seattle (WA): 2003. Dec 17, - PubMed
    1. Nguyen MTB, Micieli J, Margolin E. Teaching NeuroImages: Kearns-Sayre syndrome. Neurology. 2019 Jan 29;92(5):e519-e520. - PubMed
    1. Tsang SH, Aycinena ARP, Sharma T. Mitochondrial Disorder: Kearns-Sayre Syndrome. Adv Exp Med Biol. 2018;1085:161-162. - PubMed

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