ABSTRACT
Congenital fibrosis of the extraocular muscles (CFEOM) is a relatively rare eye movement disorder typically inherited in an autosomal dominant fashion. Affected individuals show congenital, bilateral ptosis and restrictive external ophthalmoplegia, with their eyes partially or completely fixed in an infraducted (downward) and strabismic position.
It remains unclear whether this disorder results from a primary myopathic or from a neuropathic process, and whether these two processes can be pathophysiologically related to one another.
We performed the electromyography with quantitative analysis (QEMG) of the extraocular muscles (EOM) in three members of a family affected by CFEOM whose disease gene maps to the locus on chromosome 12 (CFEOM1). QEMG data from the EOM of the affected members provides a further demonstration of a neuropathic process for CFEOM1 involving the superior and inferior division of the oculomotor nerve.
