Ultrastructural study of extraocular muscle in congenital nystagmus

To determine the mechanism of congenital nystagmus (CN), the ultrastructure of the extraocular muscle in CN patients was examined with the transmission electron microscope. The specimen of muscle tissue was taken during surgery from horizontal recti in the slow and quick phase sides separately in the jerky type, and medial and lateral recti in the pendular type. The extraocular muscle was immediately fixed in 2.5% glutaraldehyde solution. (1) In the jerky type, the myocytes in the quick phase side showed myofibrillae that were perpendicular to axes of myocytes and had the structure of sarcomeres. In the slow phase side there were perpendicular myofibrillae in the periphery of myocytes. (2) In the pendular type, there were no perpendicular myofibrillae within myocytes. The myofibrillae that were parallel to the axes of myocytes were arranged disorderly. The length of the H and I bands in different myofibrillae was not identical. These results demonstrated, for the first time, the ultrastructural changes in the extraocular muscle of CN patients, which might provide the pathological basis for this disease.