Newborn period. Pupillary responses to light.

Infancy. By 4 to 6 weeks of age, most infants will follow a light or large objects over a short range. By 3 months of age, they should fix on an object and follow it over a wide range and evidence social response to the examiner’s or mother’s face. If one eye is constantly deviated (inward with esotropia, outward with
exotropia), the examiner must assume that its acuity is abnormal. A child with an eye deviation but with equal vision in the two eyes will alternately fixate with one eye and then the other. If available, preferential looking tests for infant vision such as the Teller acuity cards are quantitative and helpful.

Childhood. At 2 or 3 years of age, most children are sufficiently verbal that a subjective visual acuity can be obtained using picture cards, such as Allen cards, or matching games, such as Lea symbols. Each eye must be tested separately, and the child must not be able to peek. One or 2 years later, most children will be able to identify the letter E in various positions. After 1 or 2 more years, letters or numbers can be used. It is easiest to identify isolated figures, but by 5 or 6 years of age children should be able to read rows or clusters of letters. Visual acuity assessment should be checked annually.

Newborn period. Some referrals at this age are dictated by abnormalities noted by the pediatrician during the examination before discharge from the maternity unit. The panoramic view of the fundus provided by the indirect ophthalmoscope through the dilated pupil can provide important information not otherwise obtainable. Critically ill newborns who may have a congenital infection, those with multiple congenital anomalies, and those suspected of having a chromosomal abnormality should have indirect ophthalmoscopy. Very premature infants should have an ophthalmic examination before or shortly after discharge from the hospital, beginning at 30 to 32 weeks postconception and continuing until the retinal vessels are mature.

Infancy. During the first few months of life, many youngsters have brief periods when the eyes do not appear to be aligned. It is abnormal at any age, however, to have a constant ocular deviation. An infant with a constant ocular deviation should be promptly and thoroughly evaluated by an ophthalmologist. The referral should not be delayed in the hope that the deviation will improve spontaneously. Most constant deviations do not improve with time; more importantly, a constant deviation may be the first sign of a serious ocular disorder, such as a retinoblastoma.

If an intermittent deviation of the eyes persists past 3 to 4 months, the child should be referred to an ophthalmologist for evaluation. Infants with physical abnormalities, such as asymmetric or large corneas, cloudy corneas, or a dark fundus reflex with the ophthalmoscope, should be promptly referred for evaluation. Delay in referring a youngster with a large cornea resulting from glaucoma may contribute to irreparable loss of vision.

Childhood. Visual acuity should be comparable in the two eyes and should be testable to at least 20/40 in both eyes by the age of 3 years. If the vision is less than 20/40 in either eye or if there is more than one line difference on the Snellen chart between the two eyes, the child should be evaluated by an ophthalmologist.

Identification of the cause of visual asymmetry is important. Serious ocular disease may be the cause, or there may be a marked difference in the refraction of the two eyes. In the latter case, glasses (perhaps with patching) may fully correct the situation if instituted in the early years. Amblyopia from asymmetric refractive errors discovered several years later may be irreversible or much more difficult to treat. An adequate refraction cannot be done in infancy and early childhood without cycloplegic medication.

Strabismus. All eye deviations should be assumed to be due to an organic lesion in the deviating eye (e.g., retinoblastoma) involving the macula until proved otherwise.

Isolated congenital ptosis. Even if it is severe, congenital ptosis rarely threatens visual development by covering the pupil. Children usually hold their heads back and peer out below the ptotic lid. Visual development may be threatened, however, by the astigmatism that may be present in the eye with a ptotic lid. These children are at risk for anisometropic amblyopia. They should be seen early and given glasses and patching as indicated.

Generally, it is best to wait for ptosis surgery until the child is at least 3 or 4 years old and until reliable measurements of levator function are obtainable. The choice of surgical procedure depends on the degree of levator function. Levator resection is indicated when reasonable levator function is present. Frontalis sling using fascia lata, preferably autogenous, is necessary in the absence of levator action.

Differential diagnosis. In the evaluation of ptosis, special attention should be paid to pupillary size. A small pupil associated with ptosis may indicate Horner syndrome. A larger pupil associated with ptosis and appropriate extraocular muscle weakness would indicate a third nerve palsy. Occasionally,
the amount of ptosis may be influenced by chewing through a synkinesis, known as the Marcus-Gunn “jaw-winking” syndrome, in which the levator palpebrae is innervated by a branch of the motor division of cranial nerve V. As the patient chews or moves the jaw from side to side, the ptotic eyelid elevates, sometimes to a level higher than the normal position.

Dermoids. A rubbery, firm, subcutaneous mass along the orbital rim present since birth is most likely a dermoid tumor. Although dermoids are most common along the superotemporal orbital rim, they occur not infrequently in other quadrants. They may enlarge slowly. A dermoid is a choristoma and is composed of tissues not normally present in that region of the body. Dermoids can be removed satisfactorily by local dissection. In children this is best done with endotracheal intubation and general anesthesia. On occasion, a dermoid that appears to be localized to the orbital rim may have a significant posterior extension into the orbit or may extensively involve the bone of the orbital rim. It may be advisable to consider radiologic studies of the involved area before surgery if the extent of the mass cannot be determined with certainty by palpation alone.

Hemangiomas involving the eyelids pose special problems. Infants with such hemangiomas should be followed by an ophthalmologist from the earliest possible age. The mass of the hemangioma may cause total occlusion of the eye and produce irreparable deprivation amblyopia. Like hemangiomas elsewhere on the body, those that involve the lids have a tendency to grow during the first year of life and then tend to regress spontaneously. In terms of minimizing scarring and side effects of therapy, the physician should delay intervention as long as possible, but if the eye is completely occluded by a hemangioma, the physician must intervene, however young the infant.

Injecting triamcinolone directly into the tumor may hasten regression but has been associated with ocular complications, including blindness, as well as cushingoid systemic effects because the dose is quite large and all is absorbed. Intralesional injection, therefore, has little advantage over oral administration of steroids. In addition to occlusion amblyopia, these eyes are at risk for anisometropic amblyopia, because the mass effect of the hemangioma produces an astigmatism in the involved eye. The involved eye may also develop high myopia. Whether or not the eye is completely occluded, it is essential that the child be refracted at an early age and appropriate attention be given to glasses and patching.

Tearing without discharge on the lashes or reflux from the nasolacrimal sac should make the clinician suspicious that congenital glaucoma rather than lacrimal duct obstruction may be causing the tearing.

Dacryocystitis will produce redness, tenderness, and swelling medial to the inner canthus. It may be present at birth but characteristically develops after a period of stagnation and obstructed tear flow.

A congenital dacryocele will produce swelling and bluish or purplish discoloration of the soft tissues medial to the inner canthus but is not inflamed. It is usually present at birth and occasionally may wax and wane in size if untreated.

Congenital lacrimal duct obstructions. Eighty percent of congenital lacrimal duct obstructions will remit during the first 6 to 9 months of life. The likelihood of spontaneous clearing over the next 2 to 3 months decreases as the infant gets older.

Dacryocystitis should be treated with systemic antibiotics. The systemic antibiotic choice keeps changing and, for these small infants, must be calculated on a per-weight basis. Once the infection has cleared, the obstruction and cause of the problem can be relieved by probing the nasolacrimal duct.

Congenital dacryocele should be relieved by probing promptly in the newborn period. At this age probing can be done without general anesthesia.

Congenital toxoplasmosis. Although ocular lesions may occasionally be acquired during a primary infection in adulthood, the vast majority of ocular toxoplasmosis lesions result from congenital infections. The characteristic lesion is a focal necrotizing retinitis. It may be solitary or in small clusters and is commonly in the posterior pole. Juxtapapillary lesions are not uncommon.

Congenital syphilis. The introduction of penicillin dramatically reduced the incidence of syphilis in general, with a concomitant reduction in the incidence of congenital syphilis. In recent years, however, there has been a resurgence of syphilis in the population as a whole, and in 1988 crude rates of primary and secondary syphilis reached their highest levels in 40 years. Reported rates of congenital syphilis in 1988 were also the highest for the past several decades. In contrast to the stages of acquired syphilis, congenital syphilis has no primary stage.

Congenital rubella syndrome (CRS). Formerly common, CRS has become rare in the United States since rubella vaccination was introduced in the late
1960s. CRS is now mostly seen in immigrants from nonimmunized populations. Approximately 50% of mothers with clinical evidence of rubella infection during the first month of gestation will bear offspring with malformations at birth. Slightly lower rates of malformation follow rubella infections during the second and third months of gestation. The classic physical findings are as follows:

Cytomegalovirus (CMV) belongs to the herpes group and is a common virus. Many women have complement-fixation titers to CMV by their childbearing years. Approximately 4% to 5% of pregnant women actively excrete CMV in their urine. Postnatal infections are also possible, because 25% of women with positive antibody of CMV have the virus in breast milk. Most neonates with congenital CMV are asymptomatic. Now that these youngsters can be identified serologically and followed longitudinally, it appears that there is an increased incidence of psychomotor retardation and microcephaly. A small subgroup of neonates with congenital CMV are very sick with hepatosplenomegaly, hyperbilirubinemia, thrombocytopenia, and petechiae. Intrauterine growth retardation and microcephaly may be evident at birth, and there may be encephalitis with or without hydrocephalus. Chorioretinitis similar to that seen with congenital toxoplasmosis has been reported. Intracranial calcification, hydrocephalus, hepatosplenomegaly, and focal chorioretinitis resulting from CMV may mimic congenital toxoplasmosis. The chorioretinitis reported in congenital CMV has been focal, in contrast to the widespread retinal necrosis and “smeary” hemorrhage described in adults in the context of an acquired CMV infection in an immunologically compromised host (e.g., following renal transplant or in human immunodeficiency virus–positive patients). Ganciclovir and foscarnet are U.S. Food and Drug Administration approved for use in progressive CMV retinitis in immunocompromised patients.

Herpes simplex. Rarely, a youngster may be born with evidence of infection acquired during pregnancy. Such evidence includes microcephaly, cerebral calcification, chorioretinitis, and mental retardation. The more usual form is acquired at the time of birth.

Gonorrhea. It is wise to consider all purulent conjunctivitis in the first few days of life as gonococcal until proved otherwise. The rapidity with which gonococcus can penetrate the cornea has been well documented, and gonococcal conjunctivitis presents a true ophthalmic emergency.

Inclusion conjunctivitis (blennorrhea, chlamydial infection) is caused by Chlamydia trachomatis. Credé 1% silver nitrate prophylaxis is not effective against inclusion blennorrhea. The conjunctivitis usually commences 5 to 12 days after birth.

Prevention of ophthalmia neonatorum. Instillation of a prophylactic agent into the eyes of all newborn infants is recommended to prevent gonococcal ophthalmia neonatorum and is required by law in most states. Although all regimens listed in this section effectively prevent gonococcal eye disease, their efficacy in preventing chlamydial eye disease is not clear. Furthermore, they do not eliminate nasopharyngeal colonization with C. trachomatis. Prophylaxis of gonococcal and chlamydial disease is

Preseptal cellulitis. Facial cellulitis that happens to involve the lids may produce alarming swelling and closure of the lids. The eye itself, however, retains full range of movement, is not proptotic, and has good visual acuity and normal pupillary reactions. Like cellulitis elsewhere, staphylococcal or streptococcal etiology is most likely, and parenteral antibiotics are indicated. H. influenzae must also be considered, especially in young children.

Orbital cellulitis denotes the infection of tissues behind the orbital septum, involving orbital structures, to produce proptosis, chemosis, limitation of eye movement, and possible loss of vision. The orbit is usually infected from a contiguous structure; often sinusitis is the cause, and in a young child Haemophilus infection must be considered. Blood cultures and consultation with an otolaryngologist are indicated. This is a life-threatening condition and requires emergency treatment. Exploration of the orbit itself is not usually indicated immediately but may be necessary later if an abscess forms. In addition to parenteral antibiotics, surgical drainage of the contiguous abscess or sinus infection by an otolaryngologist may be indicated.

Hepatolenticular degeneration (Wilson’s disease) is inherited as an autosomal recessive. In children it usually presents as hepatic disease. In older adolescents and young adults, a more common presentation is progressive neurologic disease and ataxia from deposition of copper in the CNS, especially in the basal ganglia. Its major manifestation in the eye is the Kayser-Fleischer ring in the cornea. This is a brownish or golden deposition of copper in the peripheral portion of Descemet’s membrane. In early cases, it may be visible only on slitlamp examination. A brownish discoloration of the anterior lens capsule in a petallike distribution (the sunflower cataract) may also be seen. Copper is deposited in many other tissues, as well. Liver biopsies from affected homozygous individuals have 20 to 30 times the normal concentration of copper. Usually the levels of ceruloplasmin, which binds copper in the serum, and copper in serum are low. Treatment is necessary to avoid irreversible liver damage and basal ganglion damage. It consists of a low-copper diet and treatment with a chelating agent, penicillamine. As treatment progresses, the Kayser-Fleischer rings may diminish.

Familial dysautonomia (Riley-Day syndrome), an autosomal recessive, is almost exclusively seen in individuals of Ashkenazic Jewish ancestry. A deficiency in the enzyme dopamine-beta-hydroxylase interferes with the synthesis of norepinephrine and epinephrine from dopamine. Affected individuals have marked vasomotor instability with paroxysmal hypertension, abnormal sweating, relative lack of sensation, and absent fungiform papillae on the tongue. Intradermal histamine injection produces less than the normal pain and erythema. Patients suffer also from recurrent fevers and have an increased susceptibility to infection. The eyes are involved with decreased tear production and corneal hypesthesia, which may lead to drying, exposure, and corneal scarring. Because of this susceptibility to exposure keratopathy, care must be taken to protect the corneas during these patients’ periodic crises. The pupil exhibits denervation supersensitivity to parasympathomimetic drugs. Methacholine 2.5% or pilocarpine 0.25% will cause pupillary constriction in a Riley-Day patient but not in the normal patient. The ophthalmologist can help in the diagnosis of Riley-Day syndrome with this pharmacologic test.

Physical findings. The term aniridia is used for a multifaceted ocular disorder that involves much more than the underdevelopment of the iris. Despite the term, the iris is not totally absent—a small stump is visible 360 degrees by gonioscopy and sometimes by slitlamp. Also present at birth is the macular aplasia that correlates with the markedly diminished vision and sensory nystagmus. Congenital lens opacities are frequent. During the first
and second decades, these patients often develop a characteristic peripheral corneal pannus, readily seen during slitlamp examinations. Indirect ophthalmoscopy of the far peripheral retina may reveal small yellow dots circumferentially.

These children may or may not develop glaucoma. Because glaucoma does develop in a significant number of aniridia patients, close examination from infancy onward is warranted. The occurrence of glaucoma correlates with adhesion of the peripheral iris to the TM. The mechanism of this adhesion is not well understood. Once the peripheral iris covers the outflow channels and glaucoma is present, the condition is difficult to treat. Walton has advocated the use of prophylactic goniotomy when the peripheral iris starts to cover the TM and before the IOP is elevated.

Heredity. Aniridia may be inherited in a dominant fashion or may appear as the result of a spontaneous mutation. The eponym Miller syndrome has been given to the close association of sporadic aniridia and Wilms tumor. Accordingly, thorough evaluation of the abdomen should be done when the diagnosis of aniridia is first made in a child without family history of the condition. Studies of the abdomen should probably be repeated once or twice a year during the first few years of life. Some patients with aniridia and Wilms tumor apparently have a deletion of the short arm of the eleventh chromosome, 11p. It appears that a more extensive deletion involving the aniridia locus gives rise to the association of aniridia and Wilms tumor with mental retardation, hypogonadism, and other urogenital anomalies.

Lisch nodules are benign melanocytic hamartomas that are typically tan to brown in color and reside on the surface of the iris. Although these lesions may be present on any part of the iris surface, they are more commonly found on the inferior iris. The nodules are not present at birth, but their prevalence increases with age (approximately 10 times the age—i.e., 50% at age 5 years). Lisch nodules are included as diagnostic criteria for the autosomal dominantly inherited disease Neurofibromatosis Type I (NF-I).

Juvenile xanthogranuloma is a benign dermatologic disorder in which yellowish skin lesions ranging in size from a few millimeters to several centimeters in diameter appear in the first few months of life, increase in size gradually, and then gradually fade spontaneously by age 5 years. The iris may be involved with xanthomas, which may cause spontaneous hyphema. Generally, the blood absorbs without causing permanent damage, although secondary glaucoma and other complications of hyphema may occur. Sometimes the hyphemas are recurrent. The iris xanthomas usually resolve spontaneously as the child grows older, and the problem resolves. On rare occasions topical steroids or a small dose of radiation therapy to the iris may be required.

Signs. Tearing, photophobia, cloudy cornea, and corneal enlargement in one or both eyes are the classic signs of infantile glaucoma. The signs may be present at birth (truly congenital), develop early in the newborn period, or develop in the first few years of life. Only one sign may be present initially, and it is important not to wait for the full constellation before making a complete evaluation for glaucoma. It is worthy of note that after 2 years of age the corneas generally do not enlarge even if the IOP is elevated.

Examination. Complete ophthalmologic examination includes assessment of IOP, inspection of the optic nerves, gonioscopic examination of the filtration angle, and examination of the cornea under magnification. In many infants, all of these examinations can be done in the office. Although some information may have to be obtained during anesthesia, especially in older children, the physician can usually narrow the differential diagnosis substantially at the time of the initial thorough examination in the office.