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PRACTICE GAPS
Eye examination of the newborn is a challenging but essential component
of the comprehensive neonatal examination. Any abnormality noted on
red reflex testing or inspection of the anterior ocular structures most likely
indicates underlying ocular pathology that requires evaluation by an
ophthalmologist. Increased knowledge of the critical ocular anomalies in
newborns that can lead to vision impairment and associated morbidity and
mortality as well as how to identify these anomalies on bedside
examination is essential for all neonatal clinicians.
ABSTRACT
Visual development begins at birth and continues throughout childhood.
Ocular pathology can lead to permanent visual impairment and
subsequent problems in overall development and school performance as
well as signify serious systemic disease or even life-threatening
malignancies. Prompt identification of congenital or early acquired ocular
pathology via regular bedside ocular examinations and assessments of
visual behaviors by neonatal clinicians is a critical component of newborn
care. The goal of this article is to review the components of the newborn AUTHOR DISCLOSURE Drs Mehner and
Singh have disclosed no financial
eye examination, describe key ocular findings and diagnoses that are relationships relevant to this article. This
common or critical to identify in the newborn period, and offer guidance commentary does not contain a
on necessity and timing of ophthalmology referral. discussion of an unapproved/
investigative use of a commercial
product/device.
INTRODUCTION ABBREVIATIONS
The first few months after birth are a critical period of visual development. Poor ASD anterior segment dysgenesis
visual input during this time from a variety of structural or anatomic factors can CVI cortical visual impairment
MRI magnetic resonance imaging
cause severe amblyopia (decreased vision in 1 or both eyes because of abnormal NLDO nasolacrimal duct obstruction
development of vision in infancy or childhood). Therefore, the eye examination ROP retinopathy of prematurity
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Table. Differential Diagnosis for Abnormal Red Reflex
Location Diagnosis
Anterior segment Corneal opacity
Congenital cataract
Inherited
Persistent fetal vasculature
Metabolic
Infectious
Posterior segment (leukocoria) Retinal detachment
Coats disease
Norrie disease
Retinopathy of prematurity
Incontinentia pigmenti
Retinoblastoma
Coloboma
Retina
Optic nerve
Vitreous hemorrhage
Infection
Toxocariasis
Endophthalmitis
Uveitis
Myelinated nerve fiber layer
Coloboma
Eyelid colobomas are full-thickness defects in the lid
caused by failure of closure during development (Fig 2A).
They are typically sporadic and located in the medial up-
per eyelid; however, they are associated with 2 common
syndromes that should be kept on the differential when
evaluating patients with eyelid defects (Goldenhar syn-
drome—upper lid location, Treacher Collins syndrome—
lower lid location). (5) Close monitoring of the ocular sur-
face is important because exposure can lead to corneal
scarring and vision loss if left untreated and is often the
leading factor in timing of surgical repair.
risk of infection. Initial management for an NLDO con- 2 to 4 days. Largely attributed to the application of sil-
sists of observation and lacrimal sac massage; 80% or ver nitrate previously used as prophylaxis against
more of congenital NLDO cases resolve spontaneously bacterial conjunctivitis, chemical conjunctivitis is ex-
by age 12 months. (8) If not resolved by then, ophthal- ceedingly rare in developed industrialized countries af-
mology referral for surgical probing of the nasolacrimal ter the switch to erythromycin ointment or 2.5%
system to relieve the obstruction is indicated. When povidone-iodine solution (not currently approved for
making this diagnosis, clinicians should take care to rule use in the United States).
out more serious causes of persistent tearing such as 2. Neisseria gonorrhea conjunctivitis presents with bilateral
congenital glaucoma, infection, or corneal injury/foreign conjunctival injection, chemosis, significant mucopuru-
body. lent discharge, and eyelid edema 3 to 5 days after birth.
Rapid progression to corneal involvement leading to ul-
ANTERIOR SEGMENT ceration and perforation is the most feared complication,
Infection necessitating prompt diagnosis and treatment with irriga-
Neonatal conjunctivitis occurs within the first 30 days after tion with sterile saline to remove the discharge and mem-
birth by definition and is an increasingly uncommon but se- branes, topical erythromycin ointment, and intravenous
rious complication in the newborn period. All clinicians or intramuscular ceftriaxone. Hospitalization is usually re-
should be able to quickly diagnose and initiate treatment of quired to monitor for disseminated N gonorrhea infection
neonatal conjunctivitis to minimize the risk of permanent vi- as systemic complications include arthritis, meningitis,
sion loss or progression of systemic illness. Diagnostic clues and septicemia. These infants and their mothers should
include timing of onset, appearance and amount of dis- also be treated concurrently for Chlamydia.
charge, and associated maternal or newborn illness. 3. Chlamydial conjunctivitis presents 5 to 14 days after birth
with conjunctival hyperemia and scant mucoid discharge,
1. Chemical conjunctivitis presents within the first 24 with more severe cases developing chemosis, eyelid ede-
hours after birth with bilateral conjunctival injection ma, and pseudomembrane formation (Fig 3A). Because
and watery discharge and spontaneously resolves within pneumonia develops in up to 20% of these infants,
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hospitalization may be required. Treatment consists of and direct treatment; this is because other bacteria such as
oral erythromycin and topical erythromycin ointment. Staphylococcus aureus, Pseudomonas, and other pathogens can
4. Herpes simplex virus keratoconjunctivitis presents at 1 to 2 sometimes be the infective organism. Depending on the clin-
weeks of age with periocular vesicular skin lesions, eyelid ical context, polymerase chain reaction testing, blood cul-
edema, conjunctival injection, and a nonpurulent discharge. ture(s), and further evaluation for other infections may be
Corneal involvement includes microdendrites and geograph- warranted. Although the neonatal clinician is critical in mak-
ic ulcers that can be identified with fluorescein staining and ing the initial diagnosis of conjunctivitis and initiating treat-
slit-lamp examination. Systemic infection can be concurrent ment, it is beneficial to involve ophthalmology early in the
so patients should be monitored closely. Treatment consists clinical course, especially if corneal involvement is suspected.
of oral or intravenous acyclovir and topical antiviral medica-
tions, if there is corneal involvement, to minimize risk of cor- Cornea
neal scarring and subsequent vision loss. (9) Corneal clouding or opacity is associated with a wide variety
In addition to a thorough clinical examination, neonates of pathology and necessitates ophthalmology consultation to
with conjunctivitis should have conjunctival scrapings sent help determine the etiology, early treatment, and prompt
for Gram staining and culture to help identify the organism evaluation for any associated syndromes, if indicated.
Figure 3. A) Mucopurulent discharge in a 10-day-old infant with chlamydial conjunctivitis. B) Cloudy cornea in a newborn with Peters anomaly. C) Con-
genital cataract viewed by retroillumination on red reflex testing. D) Persistent fetal vasculature cataract.
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genitourinary abnormalities, ear and hearing anomalies) Retinoblastoma is covered in detail in a separate article in this
and renal coloboma syndrome among many others, so a issue of NeoReviews and therefore not discussed further here.
genetics consultation is often warranted. In addition, rou-
tine ophthalmology referral is indicated to evaluate for co- Retinopathy of Prematurity
lobomas or dysgenesis in other ocular structures. Retinopathy of prematurity (ROP) is a prematurity-related
ocular complication distinguished by neovascularization of
Aniridia the retina, leading to retinal detachment and blindness in
Aniridia refers to hypoplasia or absence of iris tissue. On ex- the most severe cases. Because ROP is associated with
amination, iris tissue can range from the appearance of a lower gestational age and birthweight, the criteria for
persistently large or dilated pupil to a mere iris stump near screening include: 1) birthweight of 1,500 g or less, 2) ges-
the limbus. Roughly two-thirds of aniridia cases are isolated tational age of 30 weeks or less, or 3) infants with an un-
abnormalities inherited in a dominant genetic fashion with stable clinical course believed by their attending
variable expressivity. Important to note is that a subset of the neonatologist/pediatrician to be at high risk for ROP. (14)
sporadic cases of aniridia is part of the WAGR syndrome A detailed review of this topic can be found in a recent is-
(Wilms tumor, aniridia, genitourinary anomalies, and intel- sue of NeoReviews (15) and therefore not discussed further
lectual disability [formerly known as mental retardation]) and in this review.
therefore, these patients are at risk of developing a Wilms tu-
mor. Additional ocular disorders associated with aniridia in- Retinal Hemorrhages
Fundus hemorrhages are common among newborns, pre-
clude foveal hypoplasia, cataract, glaucoma, and corneal
sent in an estimated 20% to 34% of infants. (16)(17) The
abnormalities. Ophthalmic referral is therefore warranted in
hemorrhages can involve all 4 quadrants and multiple retinal
all cases of aniridia and visual prognosis is widely variable
layers. They are more common in vaginal deliveries (specifi-
depending on the extent of additional structural defects. (12)
cally vacuum-assisted deliveries) compared with cesarean sec-
tions and are thought to be caused by an acute rise in
Lens
intracranial pressure as the head passes through the birth ca-
Congenital cataracts can vary from a small white central dot
nal. They can be an incidental finding on dilated eye exami-
to a diffuse lens opacification visible on red reflex testing as a
nation for other reasons and do not require any intervention
black dot or smudge in the reflex (Fig 3C) to a significant
because most cases resolve within 2 weeks of the initial find-
dimming of the reflex or leukocoria because of blockage of
ing. (17) Similarly, subconjunctival hemorrhages are also a
the light by the opacified lens. Unilateral cataracts are typical-
common finding in the newborn period among both vaginal
ly sporadic. Persistent fetal vasculature is a type of unilateral
and cesarean deliveries because of elevated venous pressure
congenital cataract associated with microphthalmia, elonga-
in the head and neck from uterine contractions. (18) It is im-
tion of the ciliary processes, and stalk extending from the
portant to remember that ocular hemorrhages can also be ev-
posterior lens surface to the optic nerve (Fig 3D). Severe cases
idence of abusive head trauma in infants in the appropriate
can involve retinal detachments. Bilateral cataracts, in con-
context, and suspicion for this should be investigated with
trast, are more commonly caused by an inherited genetic mu-
the applicable team of subspecialists.
tation or associated with systemic abnormalities such as
metabolic disorders (galactosemia, hypocalcemia, etc), infec-
Retinal/Optic Nerve Colobomas
tion (eg, TORCH [toxoplasmosis, other agents, rubella, cyto- Similar to iris colobomas, colobomas of the retina or optic
megalovirus, and herpes simplex] infections), or syndromes nerve are the result of incomplete closure of the embryon-
such as trisomy 21. Although it is important to pursue the ap- ic fissure during development. The most common location
propriate evaluation in these cases, most bilateral cataracts is the inferior nasal quadrant of the involved structure. De-
have no identifiable cause. (13) pending on the size and location of the coloboma, visual
acuity can vary significantly, with early associated nystag-
POSTERIOR SEGMENT mus a poor prognostic sign for vision. Posterior segment
Retinoblastoma colobomas may be identified on newborn eye examination
Retinoblastoma is the most common primary ocular tumor as a dull or white red reflex. Numerous syndromic and ge-
in children and can affect 1 or both eyes. The most common netic abnormalities are associated with ocular colobomas
presenting sign is leukocoria on the red reflex test. so a multidisciplinary approach to evaluation and
examination or an ocular condition that cannot account for • Know the causes and clinical and laboratory features of
acute neonatal infections of the eyes, including
the degree of the abnormal visual function observed. (21) ophthalmia neonatorum.
Often, visual impairment secondary to the aforemen- • Know the management and complications of acute neonatal
tioned neurologic causes is not readily apparent at birth, infections of the eyes, including ophthalmia neonatorum.
but rather signs and symptoms manifest over time. In the • Know the findings and management of the ophthalmic
absence of any structural or anatomic abnormality noted complications of eye trauma that may occur in difficult
on careful eye examination by the neonatologist or pedia- deliveries or in the "shaken baby" syndrome.
• Know the causes and management of excess tearing.
trician that would prompt sooner referral, poor visual be-
havior, persistent strabismus, or abnormal eye movements
beyond age 3 months warrants thorough evaluation by an
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12. Lee H, Khan R, O’Keefe M. Aniridia: current pathology and
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