[Ocular myopathies. Nosological study of 49 cases].
This review, based on a personal series of 49 cases and on published data, deals with 2 groups of ocular myopathies: ocular myopathies with mitochondrial abnormalities (red ragged fibres, giant mitochondria with paracrystalline inclusions). Three subgroups are described: pure ocular myopathies (14 cases), ophthalmoplegia "plus" or Kearns-Sayre syndrome (10 cases). In one autopsied case spongiform encephalopathy was present; oculopharyngeal muscular dystrophies (11 cases). These forms are very different from the previous ones: late onset, almost constant autosomal dominant inheritance, dysphagia, rare ophthalmoplegia, rimmed vacuoles on muscle biopsy (8 cases). The most typical ultrastructural change is the presence of intranuclear tubular filaments. In 2 autopsied cases the central nervous system was entirely normal.
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001763:Blepharoptosis / Q000145:classification*; D005143:Eyelids / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009801:Oculomotor Muscles / Q000648:ultrastructure*; D009886:Ophthalmoplegia / Q000145:classification*
Myopathies oculaires. Etude nosologique de 49 cas.