CH. 19: Abnormal Red Reflex

CHAPTER 19
The Problem
“My child’s eye refl ex looks white.”
Common Causes
Cataract
Retinoblastoma
Pseudoleukocoria
Other Causes
Retinal abnormalities
Detachment
Coat’s disease
Retinopathy of prematurity
Retinal coloboma
KEY FINDINGS
History
General
When fi rst noticed?
Getting worse?
Does the eye wander?
Does the child appear to see?
Cataract
Family history of childhood cataracts
Other systemic/developmental problems
WHAT SHOULD YOU DO?
Almost all patients whose parents report an abnormal
red refl ex should be referred to a pediatric ophthalmologist
due to the potential serious implications of the
possible diagnoses. Similarly, if the red refl ex cannot be
adequately visualized during a well-child examination,
referral is indicated.
Abnormal Red Refl ex
Retinoblastoma
Family history of retinoblastoma
Pseudoleukocoria
Only noticed in photographs when taken
from the side
Retinal disorder
Premature birth
Family history of retinal disease
Examination
General
Assessment of red refl ex with direct
ophthalmoscope
Vision
Strabismus
Cataract
Clouding of lens
Retinoblastoma
White mass posterior to lens
Retinal detachment
Grey mass posterior to lens
Pseudoleukocoria
Red refl ex appears normal when viewed from
straight ahead
Abnormal when viewed from side
What Shouldn’t Be Missed
Retinoblastoma is highly curable if it is identifi ed while
confi ned to the eye, but is potentially lethal if it spreads.
Therefore, early diagnosis is very important.
The visual prognosis for infantile cataracts is directly
related to the age at which they are detected and treated.
Unilateral congenital cataracts should be removed by
6 weeks of age to maximize the potential for vision.

FIGURE 19–1 ■ Abnormal red refl ex, right eye, secondary to infantile
cataract.
COMMON CAUSES
1. Cataracts. Cataracts in infants are most commonly
identifi ed by an abnormal red refl ex
(Figure 19–1). Due to the high risk of amblyopia
in unilateral cataracts, prompt referral to a
pediatric ophthalmologist is indicated. Bilateral
cataracts may occur in association with several
syndromes or diseases, and these children
require evaluation for these systemic disorders
(see Chapter 30).
2. Retinoblastoma. Retinoblastoma is rare, but it
is the most common primary intraocular
tumor in children. It most frequently presents
due to an abnormal red refl ex (Figure 19–2A
and B). It is one of the few life- threatening
disorders encountered in pediatric ophthalmology.
Intraocular retinoblastoma is very
treatable, but the mortality for metastatic
disease is high. Identification of tumors
before systemic spread is critical. Most children
with large unilateral tumors will require
enucleation (surgical removal of the eye),
but the eye and vision may sometimes be
preserved if the tumors are identifi ed when
they are small.
3. Pseudoleukocoria. The optic nerve head at the
back of the eye is white. If a light is shined
into the eye from an oblique angle temporally,
the refl ection from the optic nerve head may
fi ll the pupillary opening, producing pseudoleukocoria
(Figure 19–3). This usually requires
evaluation by a pediatric ophthalmologist to
verify.
4. Retinal disorders. Retinal disorders that cause
detachments are rare in children. They most
commonly occur in infants with retinopathy of
prematurity and may also occur following
A
B
CHAPTER 19 Abnormal Red Refl ex ■ 115
FIGURE 19–2 ■ Retinoblastoma, left eye. (A) Abnormal red refl ex.
(B) Magnifi ed view shows vascularized elevated white retinal mass.
The lens is clear.
FIGURE 19–3 ■ Pseudoleukocoria, left eye. The light refl ex in the
left eye appears white due to a refl ection from the optic nerve head
(which is white). Note that the photograph is taken from the
patient’s left side.

116 ■ Section 2: Symptoms
Table 19–1.
Causes of Retinal Detachment in Children
■ Retinopathy of prematurity
■ Systemic diseases
Incontinentia pigmenti
Familial exudative vitreoretinopathy
■ Trauma
■ Toxocara
■ Coat’s disease
A
B
trauma or due to rare familial disorders
(Table 19–1). Large retinal colobomas may also
produce leukocoria (Figure 19–4A and B).
Toxocara infections may cause both retinal
detachments and cataracts. They usually present
as inflammatory white masses in the
peripheral retina (Figure 19–5).
FIGURE 19–4 ■ Retinal coloboma. (A) Leukocoria secondary to
refl ection from abnormal retina. Note the small iris coloboma (arrow).
(B) Fundus examination shows large inferior retinal coloboma.
FIGURE 19–5 ■ Toxocara infection of the retina. These usually present
as infl ammatory white masses in the peripheral retina. Note the
traction bands extending from the surface of the lesion (arrow).
APPROACH TO THE PATIENT
An abnormal red refl ex is often the fi rst abnormality
noted in patients with potentially life- and vision-
threatening disorders. Many of these occur in infants
and young children, who are unable to vocalize complaints.
It is important to realize that in young children,
even if one eye has extremely poor vision, as long as the
other eye sees normally, the child will function well visually.
Therefore, the absence of any complaints about the
child’s vision in no way rules out the possibility of unilateral
eye problems. Because of this, examination of
the red refl ex should be part of every routine wellchild
check.
History
Parents may come in to the pediatrician having noted
an abnormal red refl ex, or it may be noted during a
routine examination. In either setting, one should ask
how well the child appears to see. If the family has
noticed an abnormal red refl ex, the age when it was fi rst
noted should be determined. If only one eye is affected,
the child will usually appear to see normally. If a child
has a bilateral disorder, abnormal visual behavior will
often be the fi rst symptom noted by parents. If a child
has decreased vision in one eye for any reason, strabismus
often develops. This may be either esotropia or
exotropia, and is often intermittent.
Questions about the child’s general health may
raise the suspicion of syndromes that may be associated
with cataracts. Premature birth may lead to retinopathy
of prematurity, which may cause retinal detachments.
Retinoblastoma, cataracts, and many retinal disorders
may be inherited, and therefore obtaining a family history
is important.

FIGURE 19–6 ■ Red refl ex examination. This is most easily performed
by using the direct ophthalmoscope from 2 to 3 feet away
from the patient in a dim room. The examiner focuses on the child’s
face with the ophthalmoscope, and the red refl ex can be compared
between the two eyes.
Examination
The child’s vision and examination of the anterior segment
should be performed in the normal manner. To
best evaluate the red reflex, use the direct ophthalmoscope
from 2 to 3 feet away from the patient in a dim room.
Focus the ophthalmoscope on the patient’s face. The red
reflex can then be assessed and compared between the two
eyes (Figure 19–6). The symmetry of the corneal light
reflexes can also be noted at this time to screen for strabismus.
Pseudoleukocoria, retinoblastoma, and retinal
colobomas usually cause a very white refl ex, whereas
retinal detachments are typically gray. The appearance
of cataracts is highly variable. If a parent reports an
abnormal red refl ex, but it is not noted when shining
the light into the patient’s eyes from straight ahead, you
should assess the red refl ex as you move the direct ophthalmoscope
from side to side. Tumors of the nasal
retina, for instance, may not be noted until the light is
shined into the eye from a lateral position (Figure
19–7A–D). This may be diffi cult to differentiate from
pseudoleukocoria, which is also only noted when viewed
from a lateral position.
PLAN
If a parent reports an abnormal red refl ex or if you note
this on examination, the child should be referred
promptly to a pediatric ophthalmologist. This is particularly
important for retinoblastoma, which may be
lethal if it spreads beyond the eye. If an abnormal red
refl ex is found on a newborn screening, the patient
should also be referred promptly. In a newborn, a cataract
is the most likely etiology for leukocoria. If an infant
has a unilateral cataract, surgical removal should be performed
in the fi rst 6 weeks of life to maximize the visual
potential.
A
B
C
D
CHAPTER 19 Abnormal Red Refl ex ■ 117
FIGURE 19–7 ■ Leukocoria due to nasal retinoblastoma, left eye.
(A) Red refl ex appears normal when viewed from straight ahead.
(B) Crescent-shaped abnormality (arrow) begins to appear when light
is moved to left. (C) Red refl ex absent as light moved further to left.
(D) Fundus examination reveals a large tumor fi lling the nasal retina.
The optic nerve is marked by an arrow.

118 ■ Section 2: Symptoms
Only in photos taken
from oblique angle or
on examination of red
reflex from patient's side
Probable optic nerve
head reflection
Rarely retinoblastoma
Refer to ophthalmology
to verify
Cornea
abnormality
Iris/pupil
not visible
Refer to
ophthalmology
FIGURE 19–8 ■ Causes of an abnormal red refl ex.
WHAT SHOULDN’T BE MISSED
Abnormal red reflex
Lens opacity
Cataract
Refer to
ophthalmology
Cataracts and retinoblastoma both often present with leukocoria.
These are among the most treatable potentially
vision- and life-threatening disorders in pediatric ophthalmology,
and early referral is critical (Figure 19–8).
Retinoblastoma
Refer to
ophthalmology
When to Refer
Mass
Retina
Retinal
detachment
Refer to
ophthalmology
■ Any child with an abnormal red refl ex should be
referred to a pediatric ophthalmologist
No mass
Affected eye
often smaller
Retinal
coloboma
Refer to
ophthalmology