Neonatal Eye Examination

A screening ocular examination begins with a careful history, especially of ocular diseases in the family.²⁴ For example, a family history of retinoblastoma necessitates a comprehensive ocular examination of the fundus shortly after birth. Information about maternal diseases (e.g., rubella), injuries, medications, or use of drugs or alcohol during the prenatal period should be obtained. It is also important to document the duration and abnormalities of pregnancy, labor, and delivery. Premature birth suggests potential retinopathy of prematurity (ROP), and difficult delivery with obstetric forceps can result in direct ocular trauma.

The examination should be done under comfortable circumstances and with the proper equipment (Figure 103-1). Much can be learned if the examiner takes a few moments initially to observe the infant for facial anomalies, the external ocular appearance, and ocular motility while taking the history. The examination is most easily performed with the baby in a parent’s arms; the more difficult parts of an examination often can be accomplished while a baby is nursing or sucking on a bottle or pacifier. It is well documented that an oral sucrose solution can calm the baby significantly to allow easier examination. The screening eye examination should include an evaluation of visual function, preferably one eye at a time. For infants less than 4 to 6 weeks of age, visual function is assessed by withdrawal or blinking to light, or pupil constriction to light.²⁴

Maintenance of the eyes on an object is called fixation. The infant’s ability to fixate and follow a target can be an approximate guide to the amount of visual function present. Beyond 4 to 6 weeks of age, visual function is assessed in terms of the quality of the fixation and following. By experience, the clinician must develop an age-appropriate scale that assesses this quality of fixation and following, paying attention to the intensiveness, steadiness, and maintenance of the fixation and the smoothness and duration of the following.

Visual acuity refers to the subjective response from the patient of the ability to discern images of set sizes, such as the tumbling “E” or Snellen letters. Most normally developing children can participate in some form of visual acuity testing by the age of 30 months. If additional information regarding visual function is desired, some ancillary visual tests are available and used in indicated situations. (1) Optokinetic nystagmus describes a reflex ocular response to a moving target. As a target moves across the visual field, a pursuit motion occurs, followed by a rapid return motion in the opposite direction to regain fixation. We experience this response when telephone poles or fence posts are watched from a fast-moving vehicle. With an optokinetic drum, which consists of black and white stripes on a spinning cylinder, if the examiner can elicit optokinetic nystagmus in the infant, this establishes that the child has enough visual function to discern the stripes. The stripe widths can be calibrated so as to yield a visual acuity equivalent. Optokinetic nystagmus can be evident in term newborns.⁷³ (2) Another quantitative technique to measure a visual acuity equivalent in the infant older than 3 months is forced preferential looking.¹⁰⁸ An infant prefers to look at black and white stripes instead of a uniformly gray target. For the test, the infant is quickly shown a card that has stripes on one end and a gray target on the opposite end. The examiner watches the infant’s eyes to see whether the baby looks right or left to find the stripes. If the infant’s visual function is high enough to distinguish the stripes from the gray target, the infant will look consistently toward the stripes. If the infant’s visual function is less than the ability to distinguish the stripes from the gray target, the infant will look randomly right or left. By varying the size of the stripes, the examiner can grade the visual acuity equivalent. The disadvantages of this procedure include the number of persons necessary to administer the test, the time involved, and the need for the cooperation of an alert infant. (3) Unfortunately, most estimations of an acuity equivalent in the infant rely heavily on adequate motor responses as part of the visual evaluation. Immature or underdeveloped motor systems can reduce or interfere with eye or head movements and decrease the estimation of the visual acuity equivalent. Visual evoked potentials, which measure the electrical cortical responses to a visual stimulus, eliminate the need for patient cooperation or motor control.³⁵ Electrodes are placed over the occipital cortex to monitor activity in the brain as the eyes are visually stimulated with graded stripes or checkerboard patterns, and a computer-averaged tracing is made.

Continuing with the screening eye examination, the general facial configuration and the structure of the orbits are inspected next. Note any facial dysmorphism that could affect ocular health, or be part of an ocular syndrome, such as clefts or abnormal head shape. The orbits should be proportional and symmetric compared with the overall craniofacial configuration. Palpation is performed to examine the orbital margin, the contents of the upper and lower lids, and the round contour of the globes. The orbital rims should be sharply outlined. In the newborn infant, the rims are initially round, and increase in vertical diameter with normal growth. The area of the lacrimal sac is palpated for abnormal masses or increased size by pressing the sac against the bones of the nose and medial orbital wall. Mucopurulent material expressed from the lacrimal puncta is a symptom of obstruction of the nasolacrimal system. The eyelids are examined grossly and are compared for symmetry of horizontal and vertical placement. Spontaneous opening and closing of the lids should be observed. The lid margins should be inspected for regularity of contour, apposition to the globe, and the presence of lacrimal puncta. The punctum, the proximal opening into the nasolacrimal drainage system, is a minute hole in each lid margin a short distance from the inner corner of the eye. A rapid up-and-down movement of the lid during nursing indicates a jaw-winking phenomenon (Figure 103-2).⁶¹

The examiner should view the lashes, which normally are directed outward in an orderly row. Abnormalities include distichiasis and trichiasis and are discussed later in this chapter. Lid position abnormalities should be checked (e.g., epiblepharon).

The ocular motor system is evaluated with a motility examination. This includes ocular alignment, conjugate ocular movements, and range of movement. Infants younger than 4 months may show small physiologic misalignments of the eyes. Misaligned eyes beyond the age of 4 months should be considered pathologic.³⁴

Alignment is tested with the corneal reflex test (Hirschberg test). The examiner shines a well-focused light at the patient’s eyes and notes the spot on the cornea where the light is reflected back. If the patient is properly fixating, the light reflex should appear in the same location on each cornea, slightly nasal to the anatomic center of the cornea. If the light reflex is centered in one eye and deviated laterally in the fellow eye, esotropia is present. If the light reflex is centered in one eye and deviated nasally in the fellow eye, exotropia is present.

A positive cover-uncover test will support the impression of strabismus. If the patient does not appear to move the eyes well enough into the periphery, either spontaneously or by following an object, these movements can be driven by the doll’s head maneuver vestibulo-ocular reflex (VOR). The reflex is tested by turning the infant’s head to one shoulder, producing an opposite movement of the eyes (Figure 103-3). The eyes appear stationary as the head turns. This reflex may be reduced in severely brain damaged infants but normal in blind infants.¹⁹

Another rotational reflex is elicited by holding the infant vertically and rotating the infant in an arc around the examiner (Figure 103-4). The infant’s eyes will then tonically rotate in the direction of the spin, with short, quick movements (saccades) in the direction opposite the spin. This ocular reflex may be a form of optokinetic nystagmus and is reduced in infants with major defects of the vestibular system, lower motor pathways to the extraocular muscles, visual system, or central nervous system.¹⁹

Examination of the globes may be difficult because of the inability of the examiner to open the neonate’s eyelids sufficiently. Various pediatric eye speculums such as an Alfonso speculum (Bausch and Lomb, STORZ, San Dimas, CA) can be used to maintain the lids open and allow for adequate inspection of the ocular surface, anterior segment, or posterior segment. Before placing the eye speculum, topical ocular anesthesia can be achieved with a drop of tetracaine 0.5% eye drops. Oral sucrose can also relieve some of the discomfort of an ocular speculum.³⁶ The conjunctiva is inspected after the lids are separated with the use of a pediatric ocular speculum or fingers. The bulbar and palpebral conjunctivae are normally moist and pinkish. Redness or exudate is abnormal and can indicate infection. The conjunctivae of the lids overlying the tarsal plates should be examined after the lids are everted. Eversion is usually simple to perform with the examiner’s fingers, particularly if the infant is attempting to squeeze the lids shut. The normally white sclera is evaluated for changes of color. A bluish coloration, however, is present in premature infants and other small babies because of their very thin sclera.

The cornea is inspected with a penlight, paying attention to corneal size, shape, clarity, and luster. Magnification with loupes or an ophthalmoscope with the 20-diopter lens in place may be used. During the first few days of life, premature and term infants might demonstrate a slightly hazy cornea, which is thought to be the result of corneal edema. Thereafter, the surface of the cornea should have good luster and be absolutely transparent even to the extreme periphery. Any opacity or translucency is abnormal after the first few days of life, and referral to an ophthalmologist is indicated. Changes in transparency or opacification in the peripheral cornea may be associated with a local mesenchymal abnormality or glaucoma (Figure 103-5).

The irides are usually similar in appearance. Although normally incomplete for the first 6 months of life, pigmentation of both irides develops simultaneously. In a normal infant, the iris is often blue or blue-gray for the first few weeks or months of life. However, darkly pigmented babies can show pigmentation at birth or within the first week. Heterochromia (dissimilarity in pigmentation between the two eyes or within one eye) can indicate a normal hereditary pattern, congenital Horner syndrome (Figure 103-6), or one of several syndromes (e.g., Waardenburg) discussed later in this chapter. These syndromes might not become apparent until the end of the neonatal period or even later in life when the iris is fully pigmented.

The pupils should be central, round, and equal in diameter. The pupillary space should be uniformly black. Any amount of a white reflection is abnormal and could indicate an abnormality within the lens, vitreous, or retina. The neonate’s pupils are typically miotic in ambient light, perhaps related to prolonged sleep.⁵⁵ A penlight or a transilluminator is used to shine a light at each pupil. Beyond a corrected gestational age of 30 weeks, pupils should constrict to both direct and contralateral stimulation.⁵⁵ First, the reaction of the illuminated pupil is observed. It should constrict briskly (although the response in the neonate may be slower than in an older child) and should remain constricted as long as the illumination is maintained. If a poor response is observed, the contralateral pupil’s reaction is studied. If the contralateral pupil constricts, the directly illuminated eye must have intact photoreceptors and optic nerve pathways. Failure of constriction in the directly illuminated eye in this instance could result from abnormalities in the iris. If neither pupil constricts on direct illumination to one eye, the first eye may be severely deficient in vision. The swinging flashlight test is used to check for a relative afferent pupillary defect. Normally if the light is quickly shifted from one eye to the other, the newly illuminated eye’s pupil should show an initial small constriction movement. If illumination is maintained on the eye, small, rhythmic constriction and dilation movements—called hippus, a normal phenomenon—may follow. If, however, the shift of light is followed by dilation of the newly stimulated eye, a Marcus Gunn (or relative afferent pupillary defect) is present. This result indicates decreased vision in the eye that inappropriately dilated. Pupillary reflexes should be completely normal in patients with central (cortical) visual impairment.

The red reflex test is an essential part of the infant screening eye examination.4,111 Examination starts with a “0” diopter setting in the direct ophthalmoscope, and the child is examined at arm’s length, with both pupils illuminated (Figure 103-7). The red reflex of each eye should be clearly distinct, with no shadows or alterations. Look for any asymmetry of the intensity of the red reflex within each pupil and between the pupils. If a red reflex cannot be seen, the pupils can be dilated with cyclomydril eye drops⁸⁹ (Alcon Laboratories), and if a clear and equal red reflex is still not seen, the baby should be referred to an ophthalmologist.³⁴ Precise viewing of the anterior chamber and crystalline lens requires a slit-lamp examination, instrumentation that is usually not available to the neonatologist or primary care physician. An indirect assessment of the clarity of the cornea, anterior chamber, lens, and vitreous is performed during the red reflex test, which measures the ability of light to enter the eye and reflect back out of the eye off the retina. Similarly, the red reflex test indirectly assesses the intactness of the retina. The adventurous neonatologist or primary care physician can attempt direct viewing of the infant’s retina with a direct ophthalmoscope or a panoptic (Figure 103-8). Viewing the retina of the undilated infant’s eye with a direct ophthalmoscope is a challenge, even to the pediatric ophthalmologist, but a panfundoscope can provide adequate examination with relatively more ease. If a view of the retina is required, such as for retinopathy of prematurity screening, the consulting ophthalmologist should dilate the infant’s eyes and use more sophisticated examination instrumentation such as an indirect ophthalmoscope.

Currently, the use of the direct ophthalmoscope to directly view the retina is not considered part of the screening eye examination in the infant.⁸¹ However, if a direct ophthalmoscope examination is attempted, attention should be directed to the clarity of the vitreous cavity and the appearance of the optic disc, major retinal vessels, macula, and surrounding retina.

Normal Ocular Findings

The eye of the newborn infant differs from the adult eye primarily in function, although structural differences also exist. The growth of the eye, which parallels that of the brain, continues at a rapid rate for the first 3 years of life, especially during the first year. The anteroposterior dimension of the eye at birth is about 16.5 mm and grows to about 23 mm in adulthood. Normal values in the neonate fall within a very wide range. Suspected abnormalities in size often are substantiated only by comparison with measured values in the fellow eye or by ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI). The horizontal and vertical diameters of the cornea of the newborn are about 9 to 10 mm. Enlarged corneas suggest the diagnosis of congenital glaucoma.

The lid fissures of the term infant are usually narrow and often widely separated horizontally by prominent epicanthal folds. Normal horizontal measurement of the lid fissures in the newborn can range from 17 to 27 mm (Table 103-2). These measurements should be symmetric. The term telecanthus indicates a disproportionate increase in the distance between the medial canthal angles. It is particularly noticeable in fetal alcohol syndrome and Waardenburg syndrome. Measurements between the two medial canthi in the term newborn vary from 18 to 22 mm. Hypertelorism is defined as an increase in distance between the orbits, observed clinically as a large interpupillary distance, which is often seen in many craniofacial syndromes. A secondary telecanthus is observed in patients with hypertelorism.

Reflex tearing to irritants is evident shortly after birth. However, emotional tearing begins at about 3 weeks of age and is developed at 2 to 3 months. The newborn infant possesses a strong blink reflex in response to light and stimulation of the lids, lashes, or cornea. The reflex response to a threatening gesture does not appear until 7 or 8 weeks of age in the term infant. Repetitive eye opening is evident at birth.⁴⁵

After birth, the eyes should appear straight for the most part, although erratic, purposeless, and independent movements can be observed during the first few months of life. Any constant strabismus beyond the age of 4 months requires further evaluation.⁵ Conjugate horizontal gaze should be evident in the newborn; vertical conjugate gaze develops by 2 months of age. Convergence spasms are a normal transient phenomenon of infancy.

The ability to maintain a steady gaze or to fixate and follow an object is only weakly initiated at 4 to 6 weeks of age. At first, the eyes pursue a moving visual stimulus with short saccades. By 3 months of age, the infant can fixate and follow in both vertical and horizontal directions. At about 4 months of age, central fixation is associated with the motor activity of grasping. Binocular vision is present at about 6 months of age.

Requesting Ophthalmologic Consultations

Routine ophthalmologic consultation for all infants in the nursery is not warranted.³⁴ Pathologic ocular findings in normal neonates are sufficiently unusual that evaluation should be requested only after a screening ocular examination indicates the presence of an abnormality or for patients who for some reason are at increased risk for ocular problems. Indications for ophthalmologic consultation include a family history of congenital cataracts, retinoblastoma, congenital glaucoma, or other serious ocular diseases. Intrauterine infectious disease such as rubella, toxoplasmosis, or cytomegalovirus necessitates a thorough eye evaluation. For preterm infants, ophthalmologic consultation is necessary to exclude ROP.

Orbital Abnormalities

The contents of the orbit are confined to a conical shape by its bony walls. At the posterior apex of the orbit, the extraocular muscles originate, and the vascular and nerve structures enter the orbit. The bone structures of the lateral wall do not protect the orbital contents as far anteriorly as do the remaining sides of the orbit, which leaves the eye more susceptible to trauma on its lateral side. In the neonate, the orbital rims form a circular outline at the anterior base of the cone. Box 103-2 lists systemic syndromes with orbital abnormalities.

The terms proptosis, exophthalmos, and exorbitism are often used interchangeably to describe forwardly displaced eyes. In the strictest sense, proptosis results from an increase in orbital contents within a normal bony orbit, exophthalmos from Graves disease, and exorbitism from shallow bony orbits.

Colobomas of the lids are partial-thickness or complete defects that can range from a small notching of the lid borders to involvement of the entire length of the lid. Most lid colobomas occur in the medial aspect of the upper lid. When the lower lid is involved, the defect is more often in its lateral aspects. The cause of lid colobomas is often unknown unless associated with a craniofacial syndrome. It has been suggested that these isolated colobomas arise from the localized failure of adhesion of the lid folds that results in a lag of growth, or from mechanical effects of amniotic bands. Syndromes with associated lower lid colobomas are mandibulofacial dysostosis (Treacher Collins syndrome), Goldenhar syndrome (more often upper lid), amniotic band syndrome, and Burn-McKeown syndrome.¹²³

The treatment of lid colobomas is important when the lid defect prevents adequate lid closure and allows exposure of the cornea. Subsequent thickening, opacification, infection, ulceration, or perforation of the unprotected cornea can occur. Vision can be degraded by the amblyopia that develops. Early surgical correction is often required when the coloboma is greater than one third of the eyelid margin.¹⁰⁰

Blepharoptosis

Ptosis is asymmetry in upper lid height or symmetrical lowering of both upper lids. Although both upper and lower eyelids may be ptotic, the terms blepharoptosis or ptosis generally refer to the upper lids unless otherwise specified (Figure 103-9). The condition could be idiopathic or inherited, unilateral or bilateral, congenital or acquired. When looking straight ahead, the normal lid should elevate to a point at least midway between the pupil and the upper margin of the cornea. Neonates may have a transient self-limited droopy or closed lid as a result of facial edema or lid trauma during normal vaginal delivery. A temporary, simulated ptosis (protective ptosis or guarding) can result from irritation or infection of the cornea or conjunctiva.

Congenital ptosis most often results from the dysfunction of the levator palpebrae muscle, mostly seen as an idiopathic or familial disorder. Although occlusion of the pupil is rare, the ptotic lid can induce a corneal astigmatism and refractive amblyopia. Occlusive patching and glasses may be needed. Mild, unilateral ptosis should prompt a comparison of pupil size to evaluate for Horner syndrome. Congenital Horner syndrome (ipsilateral ptosis, miosis, and anhydrosis) is often a result of trauma at birth, although it may be associated with mediastinal disease or neuroblastoma. The involved iris may be hypopigmented.

Ptosis also may be associated with a Marcus Gunn jaw-winking phenomenon. This syndrome is caused by anomalous motor innervation of the levator palpebrae muscle from nerve twigs to the pterygoid, masseter, or lingual muscles. The affected patient has an up-and-down rhythmic movement of the upper lid during nursing activity (see Figure 103-2). The jaw-winking portion of the syndrome is thought to decrease or disappear in early adulthood, but the ptosis remains. Many surgical procedures have been designed to mitigate the ptosis.

Two forms of myasthenia gravis can produce ptosis in the neonatal period. In about 15% of neonates born to mothers with myasthenia gravis, a transient form of myasthenia occurs shortly after birth.⁴⁴ Affected children have a weak cry and poor suck and can develop weakness in all muscle groups. Ocular symptoms are rare and most commonly involve ptosis. A variety of congenital myasthenia syndromes linked to genetic disorders of the neuromuscular junction or acetylcholine production can display ptosis and ophthalmoparesis, which are often variable and related to the level of fatigue.

Pseudoptosis, or false ptosis, may be apparent when the globes are of different sizes or if enophthalmos or proptosis is present.

Microphthalmia (small eye) is a common congenital defect that can be mildly expressed. In such situations, the lid will look drooped even if it is functioning properly (Figure 103-10). A unilateral large globe caused by monocular myopia can produce a relative ptosis in the contralateral normal eye.

Ankyloblepharon

The upper and the lower lids may be fused at birth or through an inflammatory process (Figure 103-11). The term ankyloblepharon is used to designate this condition, which may be dominantly inherited. Simple excision of the bridging tissues between the eyelids is all that is required to separate the lids.

Nevi may occur anywhere on the lid margin, skin, or conjunctiva. Often a congenital nevus will not be noticed until puberty, when pigment begins to accumulate and the lesion is thought to be growing. Observation for change in size, shape, depth, or pigmentation is recommended (Figure 103-12).

Dermoid Cysts

Dermoid cysts are tumors that appear at the suture lines, most commonly at the superotemporal brow or in the superior medial central area of the brow (Figure 103-13). Occasionally they appear to be free in the orbit or lid without demonstrable direct connection to a suture line. They are benign choristomata that grow slowly but will thin out the adjacent bone. They should be removed surgically without rupturing the cyst (Figure 103-14). If a dermoid cyst is ruptured by accidental trauma or surgery, severe local inflammation can result if the extruded contents are not irrigated from the wound.

Hemangioma

Hemangiomata are quite common and occur in up to 10% of newborns. They may virtually occur in any body location, including the upper or lower lids and orbit. In infants, the hemangioma usually is not well encapsulated, and frequently periorbital and orbital lesions will occur in association with similar lesions elsewhere on the body.

Although observation of lid involvement assists in making the diagnosis, a biopsy might be required to exclude other orbital tumors if the hemangioma lacks a superficial component. Crying or straining by the infant often causes the mass to increase in size and assume a bluish coloration. Digital pressure on the superficial portion of the tumor is rapidly reversed, demonstrating the high flow of capillary hemangioma. When a hemangioma involves the eyelids, amblyopia can develop. Amblyopia may be secondary to the hemangioma’s obstruction of the visual axis, or from pressure on the cornea that subsequently induces astigmatism and anisometropic amblyopia (Figure 103-15).

Congenital capillary hemangiomata are inconsequential at birth but grow rapidly during the first 6 months of life. Spontaneous involution occurs at about age 2 to 4 years. The natural history of hemangiomas is that they will regress over several years even without treatment, but local soft tissue and occasional bone deformities may remain and are common around the eye.

When threatening the sight via amblyopiogenic properties, treatment is warranted. Until recently, treatment was oral use or intralesional injections of steroids, subcutaneous interferon, or excision of the lesion. Although these modalities are still valid, they are not free of side effects. Oral propranolol or topical timolol are effective ways of treating these tumors.22,67 In the past, treatment involved systemic, injectable, or topical corticosteroids with potential side effects over months of treatment. Central artery occlusion is a rare but well-described complication of steroid injection with permanent vision loss.¹⁰⁴ Occasionally surgery is indicated for well-defined, easily accessible tumors to avoid side effects of medical treatment.¹⁰⁹

Oral use of propranolol (2 mg/kg per day) is found to be very effective in the hemangioma treatment. However, its use, although relatively uncommon, necessitates that side effects such as hypotension and hypoglycemia be monitored closely. Also, an MRI of the brain to rule out associated intracranial vascular abnormalities will prevent cerebrovascular injuries secondary to the blood flow and tension changes due to this medication.

Other eyelid lesions include, but are not limited to, plexiform neuromas secondary to neurofibromatosis type-1, amyloid depositions, and juvenile xanthogranuloma.

Eyelash Abnormalities

Lashes may be redundant, absent, misdirected, or discolored. The condition may be inherited or acquired through mucous membrane diseases of the conjunctival sacs, infectious process, or trauma. Trichiasis is a lash that grows from a normal location but is misdirected toward the ocular surface. Congenital trichiasis patients should be examined for Down syndrome or signs of ectodermal dysplasia. If a second row of lashes is present in the area of the meibomian glands (metaplasia), the condition is referred as distichiasis. This condition usually results in contact of the lashes with the cornea, producing corneal irritation and abrasions. True distichiasis is rare but can easily be distinguished from trichiasis, entropion, and epiblepharon (Figure 103-16), all of which may be seen together. Excessive eyelash growth can result as a side effect from multiple medications, including topical prostaglandin analogues and epidermal growth factor receptor inhibitors.²⁹

Epiphora (excess tearing) usually does not occur until after the first 3 weeks of life, when the major portion of the lacrimal gland has become functional. Although the usual cause of epiphora is a blockage of the nasolacrimal ducts (dacryostenosis), the possibility of congenital glaucoma is the most important consideration in the differential diagnosis. Less commonly, tearing can result from an obstruction of the common canaliculus, congenital absence of the lid puncta, or dacryocystitis. Congenital absence of the entire lacrimal drainage apparatus is extremely rare. Reflex tearing may be produced by any stimulation of the fifth cranial nerve. Epiphora can occur as the result of corneal abrasion, corneal foreign body, or nasal and facial lesions that irritate the fifth cranial nerve. Chronic nasal congestion also may produce epiphora by mechanically blocking the nasolacrimal duct. Dacryostenosis may be present in up to 7% of neonates and creates a stagnant pooling of tears in the lacrimal sac that contributes to chronic or recurrent dacryocystitis. The inflammation is marked by a purulent exudate in the medial canthal area of the conjunctiva. Severe dacryocystitis can produce swelling and induration of the lacrimal sac medial and inferior to the medial canthus. Treatment of mild nasolacrimal infection consists of topical antibiotic drops or ointment. If surrounding cellulitis is suspected, systemic administration of medication and locally applied heat may be required. Repeated massage of the lacrimal sac at the medial canthal area serves to flush out the stagnant tears, decrease the risk for infection, and “pop” open the nasolacrimal obstruction. If the epiphora continues, a lacrimal probe passed through the nasolacrimal duct to the nose usually creates an adequate opening. Probing between 6 and 12 months of age is sometimes performed in an office setting under topical anesthesia with the baby swaddled in a sheet. In more than 90% of children with congenital dacryostenosis, the obstructions spontaneously correct during the first year of life. If persistent, treatment is then offered, but requires general anesthesia because these children are too large to swaddle for an office probing. Surgical options include simple probing, silicone tube intubation, or balloon dilation of the lacrimal system.⁷⁰

Dacryocystocele

A congenital dacryocystocele presents within the first week of life as a bluish mass adjacent to but lower than the medial canthus. Similar lesions found higher than the medial canthus should be suspected to be encephalocele. The distended lacrimal sac is filled with clear fluid, feels firm or fluctuant to palpation, and does not pulsate like a frontal encephalocele.¹²⁵ Initiating oral antibiotics is recommended as soon as a dacryocystocele is identified to prevent infection of the dacryocystocele, which can occur in up to two thirds of these patients. If the patient presents with signs of a dacryocystocele infection, admission to a pediatric intensive care unit for intravenous antibiotics is required. Surgical treatment with a nasolacrimal probing should be considered within the next 2 to 4 days (Figure 103-17).

Anophthalmia is a rare sporadic phenomenon in which there is total absence or a minute rudiment of the globe, and it can present either unilaterally or bilaterally (Figure 103-18). It occurs as a developmental failure of the optic vesicle. It is often accompanied by other congenital anomalies, such as central nervous system defects and mental retardation, and has been observed in isolation, in genetic defects (e.g., SOX2, STRA6, PAX6 genes), and in chromosomal syndromes (e.g., trisomy 13).¹¹⁹ Because lid formation does not depend on ocular formation, the lids are fully formed. However, the lids remain closed and can be partially fused, and they are smaller and sunken without the support of the eye.

Treatment involves reconstruction of the orbit to improve the appearance of the face. Plastic molds of the conjunctival sac of gradually enlarging sizes are used to stretch the lids and sac sufficiently to hold an ocular prosthesis. In unilateral situations, orbital reconstruction using tissue expanders can dramatically improve the overall facial appearance.

Microphthalmia

Microphthalmia describes a variety of conditions in which the axial length of the neonatal eye is less than two thirds of the normal 16 mm (see Figure 103-10). Causes include familial, syndromic, and chromosomal abnormalities and environmental influences during gestation. Simple microphthalmia is a condition in which there is an abnormally small eye but with intact internal organization. It may be associated with other ocular features of importance: a high degree of hypermetropia, retinal folds, a tendency for choroidal effusions, and the late occurrence of glaucoma.¹²²

Complex microphthalmia describes small eyes with internal disorganization, such as anterior segment dysgenesis, cataract, coloboma, or persistent fetal vasculature.¹²¹ Colobomatous microphthalmia occurs when the embryonic cleft of the optic vesicle fails to close. Typically this form is associated with other ocular anomalies such as colobomas of the iris, ciliary body, fundus, or optic nerve, or colobomatous orbital cysts.

Microphthalmia can also be associated with other ocular and systemic syndromes, including intrauterine infections such as rubella and cytomegalovirus, craniofacial anomalies, anterior segment dysgenesis syndromes, or chromosomal abnormalities. Because of the heterogenicity of associated findings, infants with microphthalmia should be evaluated by both an ophthalmologist and a geneticist.

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