Congenital Ptosis (Drooping Eyelid) Clinical Presentation

All pediatric patients presenting with either unilateral droopy eyelid or bilateral droopy eyelids need a thorough examination that includes a medical history, a family history, a history of drug or allergic reactions, and a review of systems.

Family photographs can help determine onset or variability of the ptosis and the eyelid appearance of family members. A patient with a strong family history of congenital ptosis may not need an extensive workup.

Prior to eyelid surgery, bleeding diathesis, anticoagulant medications, malignant hyperthermia, and cardiac conditions should be excluded. Patients with ptosis and Kearns-Sayre syndrome or chronic progressive external ophthalmoplegia may also have a cardiac conduction disorder.

Maternal myasthenia or a history of fluctuating ptosis with strabismus may suggest myasthenia gravis in a child.

A careful medical history regarding cancer should be obtained. Metastatic or primary orbital tumors can result in ptosis.

A history of trauma with orbital wall fractures can result in pseudoptosis with enophthalmos. Additionally, third cranial nerve palsy from trauma may result in ptosis.

A history of drug or allergic reactions may be helpful. Allergic reactions can result in eyelid edema and droopy eyelid.

A history of anisocoria and iris heterochromia may be helpful in diagnosing Horner syndrome. Patients with Horner syndrome have ipsilateral ptosis and miosis. Cervical or apical thoracic tumors can cause damage to the sympathetic chain and result in this condition. Neuroblastoma, which is one of the most common childhood cancers, should be ruled out.

A history of dry eyes, intermittent epiphora, or chronic conjunctivitis can indicate a dry eye disorder or corneal surface disease.

All pediatric patients presenting with either unilateral droopy eyelid or bilateral droopy eyelids need a thorough physical evaluation.

In infants, the surgeon should ensure the baby can fixate and follow objects with each eye individually.  In children with unilateral ptosis, a chin-up head posture usually suggests that the child can see from both eyes. Visual acuity, refraction, and dilated fundus examination findings should be recorded. The patient should be evaluated for strabismus (misalignment), especially since hypotropia can cause a pseudoptosis.

Serial external photographs of the eyes and the face may be included in the patient's record for documentation.

Children usually maintain a good tear film, but tear function should be evaluated if any doubt exists about the adequacy of tear production. This evaluation would include a slit-lamp examination with fluorescein stain to examine the cornea, tear meniscus, and tear break-up time. Schirmer testing and testing of corneal sensation are not commonly performed in children, but can be considered, when appropriate.

An exophthalmometer can be used to assess relative proptosis or enophthalmos of each eye. In pseudoptosis, a proptosis of the contralateral eye gives the false impression that the normal upper eyelid is droopy.

The pupillary size and the iris color differences between the eyes should be examined for Horner syndrome.

Documentation of the distance of the corneal light reflex from the upper lid margin in millimeters (margin reflex distance 1) is very helpful. The vertical palpebral fissure height with each eye fixating in the distance can also be recorded. Patients with congenital ptosis may have a poorly developed lid crease. The lid position in downgaze should be noted. In congenital ptosis, the ptotic lid appears higher in downgaze.

After the palpebral fissure distance is measured, the levator function should be evaluated. The patient looks downward as a ruler is positioned with a mark adjacent to the upper lid margin. With the examiner's hand eliminating any brow action by the patient, the patient looks upward as far as possible without a change in head position. Lid elevation is measured directly from the ruler and is recorded in millimeters of levator function.

Children with ptosis should be asked to open their mouth or chew to examine for jaw-winking (trigemino-oculomotor synkinesis).

The patient should be examined for Bell phenomenon. The patient closes both eyes tightly as the examiner holds the upper and lower lids apart. If the globe elevates during the forced lid closure, a normal Bell phenomenon is present. This evaluation can help the surgeon to determine the risk of exposure keratopathy following the eyelid surgery.

The eyelids should be everted with palpation of the ocular adnexal tissues. A lid mass can cause extra weight in the lid, resulting in ptosis. Plexiform neuromas, lymphoma, or leukemia can result in an eyelid mass, proptosis, or globe displacement. Rhabdomyosarcoma may present with a mass that is palpable through the lid.

In most cases of congenital ptosis, the cause is idiopathic.

Histologically, the levator muscles of patients with congenital ptosis are dystrophic. The levator muscle and aponeurosis tissues appear to be infiltrated or replaced by fat and fibrous tissue. In severe cases, little or no striated muscle can be identified at the time of surgery. This suggests that congenital ptosis is secondary to local developmental defects in muscle structure, and there may be fatty degeneration. ^[5]

Congenital ptosis may occur through autosomal dominant inheritance. Common familial occurrences suggest that genetic or chromosomal defects are likely.

Note the following causes:

• Blepharophimosis syndrome: This condition consists of short palpebral fissures, congenital ptosis, epicanthus inversus, and telecanthus. The condition is autosomal dominant and may be associated with forkhead box L2 gene defects and, occasionally, ovarian dysfunction. ^[6]
• Third cranial nerve palsy: Signs of aberrant regeneration such as lid gaze synkinesis may be present. The pupil may be enlarged or paradoxically small and nonreactive.
• Horner syndrome: Ipsilateral findings of mild ptosis, miosis, and anhidrosis characterize this syndrome. The ipsilateral lower eyelid may be elevated. Also, because of the lack of sympathetic innervation to the iris melanocyte development, a difference in the iris color between the eyes may result (called heterochromia).
• Marcus Gunn jaw-winking syndrome: The motor nerve to the external pterygoid muscle is misdirected to the ipsilateral levator muscle. Lid elevation occurs with mastication or with movement of the jaw to the opposite side.
• Birth trauma
• Duane syndrome: In this condition, the sixth cranial nerve fails to innervate a lateral rectus muscle. Then, the muscle acquires an innervation of the third cranial nerve. Although the synkinesis produced does not involve lid innervation, enophthalmos with apparent ptosis may result. In Duane syndrome type I, the upper eyelid appears to droop farther with lower lid elevation when the eye is adducted because of a co-contraction of the horizontal rectus muscles.
• Periorbital tumor: Neuroblastoma, plexiform neuromas, lymphomas, leukemias, rhabdomyosarcomas, neuromas, neurofibromas, or other deep orbital tumors may produce ptosis or proptosis.
• Kearns-Sayre syndrome: This mitochondrial deletion disorder is characterized by progressive external ophthalmoplegia, heart block, retinitis pigmentosa, and central nervous system manifestations. This condition begins in childhood but is rarely present at birth. The conditions are most likely to become symptomatic in the first or second decade of life. Bilateral ptosis is a prominent feature of this syndrome.
• Myotonic dystrophy: Patients with this condition may present with polychromatic cataracts, gonadal atrophy, or premature thinning and/or loss of hair. Myotonic dystrophy is an autosomal dominant disorder that is characterized clinically by myotonia and progressive muscular weakness.
• Blepharochalasis: This condition is characterized by infiltrative processes that thicken the lids and produce ptosis.
• Myasthenia gravis: A defect at the neuromuscular junction produces relative unresponsiveness to released acetylcholine, resulting in ptosis.
• Pseudotumor of the orbit: Patients with this condition may present with ptosis due to inflammation and edema of the eyelid. 
• Pseudoptosis: Less tissue in the orbit (eg, unilateral smaller eye, fat atrophy, blowout fracture) produces the appearance of ptosis secondary to the decreased volume of orbital contents.