"New" congenital cranial dysinnervation disorder - Ptotic lid elevation with ipsilateral abduction

ABSTRACT

Purpose: To report and discuss a new form of congenital cranial dysinnervation disorder - ptotic lid elevation during ipsilateral abduction. Ophthalmic evaluation of affected individuals in two related families and of other immediate family members. Two siblings and their cousin exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction - one sibling is bilaterally affected and the two other individuals are unilaterally affected. A third sibling has isolated bilateral congenital ptosis. A fourth demonstrates classic Duane syndrome Type I in the right eye. Other family members do not have ophthalmic abnormalities. Conclusions: A familial syndrome of ptotic lid elevation during ipsilateral abduction is described. A unifying mechanism of congenital cranial dysinnervation likely underlies phenotypes of congenital oculomotor and/or abducens nerve abnormalities with or without abnormal synkinesis