Diagnosis of ocular myopathy.

Hutchinson (1897) described a disorder in which ptosis was associated with paralysis of the other extraocular muscles to which he gave the name "external ophthalmoplegia". Fuchs (I890) reported five patients with ptosis, in two of whom the disorder was familial, and Dutil (I892) and Delord (I903) published two other cases of an unusual familial form of dysphagia associated with ptosis. The prevailing opinion at the time was that external ophthalmoplegia was due to a degeneration of cranial nerve nuclei. The idea that ptosis was but a fragment of a progressive dystrophy of all striated ocular muscles was put forward by Treacher Collins (I922) and by Sandifer (I946). This opinion has gained acceptance only since the critical study of Kilch and Nevin (I95I), in which five patients with progressive muscular dystrophy with early and predominant affection of the external ocular muscles were described; they suggested that the term "ocular myopathy" be applied to these cases. Lees and Liversedge (I962) described three examples of the descending form of this disease. In their cases the ptosis and ophthalmoplegia preceded by many years the involvement of the face, pharynx, larynx, neck, shoulder, and pelvic girdles, and the course of the illness was slow and relatively benign. Victor, Hayes, and Adams (i962) called attention to a form of restricted myopathy of cranial muscles characterized by dysphagia and ptosis which they called oculopharyngeal myopathy; both familial and sporadic cases were described and firm evidence was presented that the disorder was myopathic. Roberts and Bamforth (I968) analysed 26 further patients diagnosed as cases ofocular myopathy; six of their patients had dysphagia with motility and radiographic changes suggesting that the dystrophic process also involved the smooth muscle of the oesophagus. Because of the apparent rarity and lack of general recognition of ocular myopathy, we thought it of interest to describe four cases seen over the course of one year.