Extraocular Muscle Pathology in Aperts Syndrome
Aperts disease or Acrocephalosyndactyly described by Apert1 consists of oxycephaly (tower skull), exophthalmos, strabismus, antimongloid fissures, syndactyly (fusion of fingers, 2-4). This syndrome frequently involves ocular motility disturbances.: the latter have been suggested to result from mechanical limitations of the globe which are secondary to the bony malformation of the orbit2. Up until this time the question of a structural abnormality existing in the extraocular muscles themselves has not been investigated. The present light and electron microscopic study examined a segment of the inferior oblique muscle taken from a patient with Aperts syndrome.The right inferior oblique muscle from a patient with Aperts syndrome was completely disinserted and an 8mm segment was taken from its belly portion. The specimen was fixed initially in 1% paraformaldehyde-1% glutaraldehyde in phosphate buffer for 4 hrs, then transferred to 4% glutaraldehyde overnight. The muscle segment was postfixed in 1% osmium tetroxide, dehydrated in graded alcohols, embedded whole in Epon 812, and serially sectioned at 15 microns.