Kearns-Sayre syndrome

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Kearns-Sayre syndrome
ICD-10 H49.8
ICD-9 277.87
OMIM 530000
DiseasesDB 7137
eMedicine ped/2763 
MeSH D007625

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Kearns-Sayre syndrome (abbreviated KSS) is a disease caused by a 5,000 base deletion in the mitochondrial DNA. As such, it is a rare genetic disease in that it can be heteroplasmic, that is, more than one genome can be in a cell at any given time. As with all mitochondrial diseases, it can only be maternally inherited.

Kearnes-Sayre syndrome starts before the age of 20.

Presentation

Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia and retinal degeneration, specifically retinitis pigmentosa, common features.

Other characteristic features of are dysphagia, proximal weakness, hearing loss, cerebellar ataxia and cardiac conduction defects.

Prognosis

There is no treatment for Kearnes-Sayre syndrome as of now. In general, only palliative medications are available to sufferers in order to help relieve the symptoms of the disease.

Eponym

It is named for Thomas Kearns and George Sayre.[1][2]

References

  1. synd/1884 at Who Named It
  2. Kearns T, Sayre G (1958). "Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases". A.M.A. archives of ophthalmology. 60 (2): 280–9. PMID 13558799. 

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