Disease or Syndrome
Kearns-Sayre syndrome
Subclass of:
Chronic progressive external ophthalmoplegia;
Retinitis Pigmentosa;
Cardiomyopathies
Definitions related to kearns-sayre syndrome:
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A genetically heterogenous condition caused by various deletions of mitochondrial DNA. The condition is characterized by myopathy, with "ragged red" fibers on histopathology of muscle biopsy, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, ataxia, cognitive impairment, and diabetes mellitus.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature.NCI ThesaurusU.S. National Cancer Institute, 2021
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Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.GeneReviewsUniversity of Washington, 2021
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Kearns-Sayre syndrome (KSS) is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid (CSF) protein content, and proximal myopathy.WebMD, 2019
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Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and-pepper" pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (PEO). In addition, affected individuals have at least one of the...National Center for Advancing Translational Sciences
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