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Kearns-Sayre syndrome (abbreviated KSS) or Ragged Red Fiber Myopathy or Oculocraniosomatic Syndrome is a disease caused by a 4,977 base-pair 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 be either a maternally inherited mutation however cases are usually the result of sporadic mutations.
Kearnes-Sayre syndrome starts before the age of 20.
Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia and retinal degeneration, specifically retinitis pigmentosa, as common features.
Other characteristic features of KSS are dysphagia, proximal weakness, hearing loss, cerebellar ataxia and cardiac conduction defects.
White matter lesions are usually seen.[1]
There is no treatment for Kearns-Sayre syndrome as of now. In general, only palliative medications are available to sufferers in order to help relieve the symptoms of the disease.
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