Congenital nystagmus: fine structure of human extraocular muscles

The ultrastructure of the extraocular muscles of patients affected by congenital nystagmus is still to be defined. Specimens obtained from patients suffering from either oculomotor congenital nystagmus or nystagmus associated with strabismus were studied and compared with specimens obtained from patients enucleated for various pathologies but not affected by any oculomotor system disorder. The scleral myotendinous junction and the muscle body (venter) were examined. In both these areas, damaged muscle fibers were found. 'Mitochondrial cores' and concentric myofibrils characterized the extraocular muscles of the patients with oculomotor congenital nystagmus. In the extraocular muscles of the patients affected by nystagmus associated with strabismus we also found mitochondria with concentric cristae surrounding a highly electron-dense spherical body and numerous, large rods. In conclusion, these data indicate that both contractile and mitochondrial modifications might be signs of an altered muscle function and seem to indicate that oculomotor congenital nystagmus should be included among the list of oculomotor myopathies.