Kearns-Sayre syndrome

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. Unlike most mitochondrial diseases, it is not maternally inherited. Rather, it occurs sporadically. 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 KSS are dysphagia, proximal weakness, hearing loss, cerebellar ataxia and cardiac conduction defects. White matter lesions are usually seen.^[1]

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.^[2][3]

References

1. ^ Filosto M, Tomelleri G, Tonin P, et al (2007). "Neuropathology of mitochondrial diseases". Biosci. Rep. 27 (1-3): 23–30. doi:10.1007/s10540-007-9034-3. PMID 17541738.
2. ^ synd/1884 at Who Named It
3. ^ 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.

External links

• kearns_sayre at NINDS