View source for Kearns-Sayre syndrome

{{Infobox_Disease |
  Name           = {{PAGENAME}} |
  Image          = |
  Caption        = |
  DiseasesDB     = 7137 |
  ICD10          = {{ICD10|H|49|8|h|49}} |
  ICD9           = {{ICD9|277.87}} |
  ICDO           = |
  OMIM           = 530000  |
  MedlinePlus    = |
  eMedicineSubj  = ped |
  eMedicineTopic = 2763 |
  MeshID         = D007625 |
}}
{{Search infobox}}
{{CMG}}



'''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 [[eye]]s, with [[Ophthalmoparesis|ophthalmoplegia]] and [[retina]]l degeneration, specifically [[retinitis pigmentosa]], common features.

Other characteristic features of are [[dysphagia]], proximal weakness, [[hearing impairment|hearing loss]], [[cerebellum|cerebellar]] [[ataxia]] and [[heart|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.<ref>{{WhoNamedIt|synd|1884}}</ref><ref>{{cite journal |author=Kearns T, Sayre G |title=Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases |journal=A.M.A. archives of ophthalmology |volume=60 |issue=2 |pages=280-9 |year=1958 |pmid=13558799}}</ref>

==References==
<references/>

==External links==

* {{NINDS|kearns_sayre}}

{{Mitochondrial diseases}}
{{Eye pathology}}

[[Category:Mitochondrial diseases]]
[[Category:Rare diseases]]
[[Category:Syndromes]]
[[Category:Cardiology]]

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