A rare, neuromuscular, or multisystemic disorder primarily characterized by chronic progressive external ophthalmoplegia (eye muscle paralysis), atypical retinis pigmentosa (abnormal accumulation of pigmented material on the retina), and heart diseases (cardiomyopathy leading to complete heart block). It is caused by deletions of large parts of mitochondrial DNA and appears in young people before 20 years of age.

Also Known As

  • KSS; Ophthalmoplegia
  • Pigmentary Degeneration of Retina
  • and Cardiomyopathy; Oculocraniosomatic Syndrome; Ophthalmoplegia Plus Syndrome; Mitochondrial Cytopathy; Ophthalmoplegia
  • Progressive External
  • with Ragged Red Fibers; Chronic Progressive External Ophthalmoplegia with Myopathy; CPEO with Myopathy; CPEO with Ragged Red Fibers
  • Ophthalmoplegia Plus Syndrome
  • Single Large-Scale mtDNA Deletion Syndrome (SLSMDS)