eMedicine Specialties > Ophthalmology > Lid

Ptosis, Congenital

Author: Donny W Suh, MD, FAAP, Clinical Assistant Professor, Pediatric Ophthalmology Service, University of Nebraska Medical Center; Pediatric Ophthalmologist, Adult Strabismus Specialist, Wolfe Eye Clinic, PC; Consulting Staff, Blank Children's Hospital, Mercy Medical Center of Des Moines, Iowa Methodist Hospital of Des Moines, and Marshalltown Medical Center
Contributor Information and Disclosures

Updated: Feb 24, 2010

Introduction

Background

A drooping eyelid is called ptosis or blepharoptosis. In ptosis, the upper eyelid falls to a position that is lower than normal. In severe cases of ptosis, the drooping eyelid can cover part or all of the pupil and interfere with vision, resulting in amblyopia.^1,2 Note the images below:

Pathophysiology

The eyelids are elevated by the contraction of the levator palpebrae superioris.

In most cases of congenital ptosis, a droopy eyelid results from a localized myogenic dysgenesis. Rather than normal muscle fibers, fibrous and adipose tissues are present in the muscle belly, diminishing the ability of the levator to contract and relax. Therefore, the condition is commonly called congenital myogenic ptosis.

Congenital ptosis can also occur when the innervation to the levator is interrupted through neurologic or neuromuscular junction dysfunction.

Frequency

United States

The frequency of congenital ptosis in the United States has not been officially reported. However, in approximately 70% of known cases, congenital ptosis affects only one eye.

International

The incidence rate of congenital ptosis worldwide is unknown.

Mortality/Morbidity

If congenital ptosis obscures any part of the pediatric patient's visual field, surgery must be performed to correct the problem early in life. Otherwise, a permanent loss of vision may occur as a result of amblyopia.

• Occlusion amblyopia
• Astigmatism from the compression of the droopy eyelid
• Ocular torticollis

Race

Congenital ptosis occurs equally among the different races.

Sex

Congenital ptosis occurs equally between males and females.

Age

Congenital ptosis is usually present at birth but may manifest within the first year of life.

Clinical

History

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. Providing photographs also gives the surgeon a chance to examine the other family members. A patient with a strong family history of congenital ptosis may not need an extensive workup.
• In severe cases of congenital ptosis in which surgery is needed, historical emphasis should be placed on any anticoagulant use or bleeding disorder to avoid potential complications during surgery. The surgeon should also inquire about a family history of malignant hyperthermia and cardiac disorders. Patients with ptosis and Kearns-Sayre syndrome or chronic progressive external ophthalmoplegia may also have a cardiac conduction disorder.
• A history of fluctuating ptosis with strabismus may indicate myasthenia gravis.
• A careful medical history regarding cancer should be obtained. Metastatic or primary orbital tumors can result in malpositioning of the eyelid.
• 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 difference in the size of the pupil may be helpful in diagnosing Horner syndrome. Patients with Horner syndrome have ptosis and miosis on the same side. 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.

Physical

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

• Visual acuity, refractive error, and cycloplegic refraction should be recorded. In infants, the surgeon should make sure that the baby can fixate and follow objects with each eye individually.
• The patient should be evaluated for strabismus (misalignment) and undergo a dilated fundus examination.
• Serial external photographs of the eyes and the face may be included in the patient's record for documentation.
• 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. The Schirmer test can also be performed for dry eye syndrome; to do so, a filter paper is applied at the junction of the middle and lateral one third of the lower eyelid.
• Corneal sensitivity should be tested if possible. This may be a difficult test in young pediatric patients.
• 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.
• The lid height (palpebral fissure distance) should be observed and measured in millimeters with each eye fixating on a distant target. The distance is the measurement of the greatest width of the palpebral fissure with the patient's eyes in straight gaze. 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.
• 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.
• Careful external examination along with palpation of the eyelids and the orbital rim should be performed. A lid mass can cause extra weight in the lid, resulting in ptosis. Plexiform neuromas, lymphoma, or leukemia can result in an eyelid mass. Rhabdomyosarcoma may present with a mass that is palpable through the lid.

Causes

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.

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

• Blepharophimosis syndrome: This condition consists of short palpebral fissures, congenital ptosis, epicanthus inversus, and telecanthus.
• Third cranial nerve palsy: Signs of aberrant regeneration are usually present. The pupil may be 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 droops further and the lower lid elevates 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.

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