Kearns-Sayre syndrome

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.

External links

• kearns_sayre at NINDS