Congenital ptosis is a condition resulting in droopy eyelids at birth. This can affect one or both upper eyelids. The most common type of ptosis is associated with a deficiency of striated muscle. It is thought to be a localized developmental dystrophy of unknown cause. It is present at birth and remains stationary throughout life if not repaired. It is mostly sporadic, however, cases of family history have been reported.
Congenital ptosis can also occur as part of the blepharophimosis syndrome , in Marcus-Gunn jaw winking syndrome, congenital 3rd nerve palsy , congenital fibrosis of the extraocular muscles, and traumatic ptosis at birth. Marcus-Gunn jaw winking syndrome is a rare syndrome caused by aberrant innervation of the levator muscle of the eyelid from the third branch of the trigeminal nerve, resulting in ptosis and eyelid movement during mouth movement, crying, eating, and sucking.
When a child presents with congenital ptosis, ophthalmologic referral is necessary. Since ptosis can cause amblyopia, by either blocking the visual axis or inducing astigmatism, the vision of the eye and the refractive error have to be determined. If the vision is affected, then appropriate ambylopia therapy must take place. This can consist of patching the good eye and using glasses. If it is determined that the eyelid is so droopy that the patient cannot see out of the eye, then very early ptosis surgery is indicated. Otherwise, it is better to wait until the child is older.
If the vision is not affected, then the child needs to be monitored closely until ptosis surgery is contemplated. Amblyopia may still develop as the patient grows while the ptosis is still present. Rarely, ptosis can cause abnormal head positions as the patient tries to see better and can cause deformities in the head and neck area.
There are several different operations which can repair congenital ptosis. Surgery should take place from the time an accurate preoperative examination can take place until approximately five years of age.