Pediatric Cataract: The Toronto Experience—Etiology
ZENA LIM, SHEHLA RUBAB, YIONG HUAK CHAN, AND ALEX V. LEVIN
● PURPOSE: To study the etiology and characteristics of
pediatric cataracts in a large sample from 1 institution.
● DESIGN: Observational case series.
● METHODS: The study population included 778 con-
secutive cases (1122 eyes) of children presenting with
any type of pediatric cataract over a 10-year period.
Age at presentation, laterality, cataract morphology
and etiology, and presence of strabismus were re-
corded. Association with systemic diseases or syn-
dromes and coexistent ocular anomalies were noted.
Snellen or Allen picture charts were used to record
visual acuity, when able.
● RESULTS: Unilateral cataract accounted for slightly
over half of the cases. The etiology was idiopathic in the
majority of patients. The most common systemic associ-
ation was diseases with steroid treatment–induced cata-
racts. Cataracts, when associated with other isolated
ocular anomalies, tended to occur unilaterally. Among
syndrome-associated cataracts, Down syndrome repre-
sented a third of the cases. Posterior subcapsular cataract
was the most common morphologic type. Almost half of
the patients presented with Snellen 6/9 or better or
“central, steady, maintained” vision where it was not
possible to obtain quantitative vision data.
● CONCLUSIONS: Despite the diverse nature of cases with
frequent systemic associations, unilateral cataracts and id-
iopathic etiology accounted for the majority of cases. (Am
J Ophthalmol 2010;149:887– 892. © 2010 by Elsevier Inc.
All rights reserved.)
C
ATARACT IS A MAJOR PREVENTABLE CAUSE OF
childhood visual impairment and blindness in the
world. Its prevalence has been reported as 1 to 15
per 10 000 children.1 In developed countries, the preva-
lence of blindness from childhood cataracts is 0.1 to 0.4 per
10 000 children and approximately 10 times more in
developing countries.1 Globally, an estimated 200 000
children are bilaterally blind from cataracts.2
Most of what is known about the epidemiology of
childhood cataracts is restricted to studies of congenital
cataracts. In the United Kingdom, the incidence of con-
Accepted for publication Jan 5, 2010.
From the Department of Ophthalmology and Vision Sciences, The
Hospital for Sick Children, Toronto, Canada (Z.L., S.R., A.V.L.); and
the Biostatistics Unit, Yong Loo Lin School of Medicine, National
University of Singapore, Singapore (Y.H.C.).
Inquiries to Dr Alex V. Levin, Chief, Pediatric Ophthalmology and
Ocular Genetics, Wills Eye Institute, 840 Walnut St, Philadelphia, PA
19107-5109; e-mail: alevin@willseye.org
0002-9394/$36.00 © 2010 BY ELSEVIER INC. ALL
doi:10.1016/j.ajo.2010.01.012
genital cataracts was reported as 2.49 per 10 000 children
in the first year of life, increasing to 3.46 per 10 000 by 15
years.3 In the United States, the incidence rate has been
reported as 2.03 per 10 000 births.4 In a large cohort
prospective study of 55 908 pregnancies in the United
States, the prevalence of infantile cataracts was reported as
13.6 per 10 000 infants.5
Data on the characteristics of pediatric cataracts are
useful for the purposes of diagnosis, genetic counseling, and
selection of treatment options. Prevention strategies also
require information about etiology. Many studies that
examine variables other than overall aggregate incidence
are restricted to small numbers of patients. At The Hos-
pital for Sick Children (HSC) in Toronto, we were able to
review a large, diverse cohort of patients under care during
a 10-year period to better study the etiology and charac-
teristics of pediatric cataracts.
METHODS
WE RETROSPECTIVELY REVIEWED THE HEALTH RECORDS OF
all patients who presented at HSC from January 1, 1992
through December 31, 2002 with any type of cataract
cared for by the senior author, Dr Alex Levin, or another
ophthalmologist (Dr David Rootman), who managed all
the childhood cataract cases at our hospital during that
time period. Patients who required surgical intervention
were identified using the hospital surgical data program
Surgiserver (McKesson Corporation, San Francisco, Cali-
fornia, USA). Those who were managed without surgery
were identified from the outpatient billing records of the
Department of Ophthalmology and Vision Sciences as well
as the clinical database of patients seen by Dr Levin. For
billing purposes, cataract types and related conditions were
coded using the International Classification of Diseases,
Ninth Revision, Clinical Modification (ICD-9-CM). The
following codes were utilized for case identification
through the billing records: infantile cataract (366.0),
congenital cataract and lens anomalies (743.3), and apha-
kia and other disorders of lens (379.3).
Individual case records were reviewed to confirm the
presence of cataracts. Patients who had cataracts prior to
January 1, 1992, with or without surgery, but who received
subsequent care during the 10-year interval of interest,
were also included. Data were entered into SPSS for
Windows version 12.0 statistical software (SPSS Inc,
RIGHTS RESERVED. 887
 TABLE 1. Relative Frequency of Pediatric Cataract
Etiologies

Number of Patients
Etiology (n ⫽ 778) [%]

Idiopathic 453 [58.2]

Traumatic 100 [12.9]
Inherited 91 [11.7]
Association with systemic disease not
including those on steroids or with iritis 33 [4.2]
Syndromes 56 [7.2]
Steroid-induced (includes patients on topical
steroids and those whose disease control
specifically required systemic steroids, eg,
FIGURE. Frequency (%) of presenting vision of all pediatric iritis) 45 [5.8]
cataracts. The majority presented with Snellen 6/9 or better, and
CSM vision. CSM ⴝ central, steady, maintained; CUSUM ⴝ
central, unsteady, unmaintained; CSUM ⴝ central, steady, un-
TABLE 2. Systemic Diseases Observed With Pediatric
maintained; UCUSUM ⴝ uncentral, unsteady, unmaintained;
Cataractsa
LP ⴝ light perception; NLP ⴝ no light perception.
Number of Patients
Disease (n ⫽ 129) [%]

Diseases with steroid-induced cataracts

Chicago, Illinois, USA). We recorded the age of each (excluding JIA, SLE, and
patient at diagnosis, age at surgery (where applicable), dermatomyositis) 57 [44.2]
laterality, cataract morphology, cataract etiology, and as- JIA with iritis (all on steroids) 24 [18.6]
sociation with systemic disease or syndromes. Coexistent Malignancies with nonsteroid treatment–
ocular anomalies were also recorded. Prevalence of strabis- induced cataracts 15 [11.6]
Congenital infection 11 [8.5]
mus was recorded without differentiating development pre
SLE 6 [4.7]
or post cataract surgery. Because of the retrospective
Galactosemia 5 [3.9]
nature of our study, it was not always clear if the strabismus
Diabetes mellitusb 4 [3.1]
noted was present preoperatively or postoperatively. Inher- Sarcoidosis with panuveitis 2 [1.6]
ited cataracts were defined as morphologically similar Dermatomyositis (all on steroids) 2 [1.6]
cataracts occurring in childhood within the same family Otherc 3 [2.3]
and included autosomal dominant, autosomal recessive,
and X-linked recessive patterns of inheritance. We recog- JIA ⫽ juvenile idiopathic arthritis; SLE ⫽ systemic lupus
nize that some sporadic cases, in the absence of identifiable erythematosus.
a
causation, may be heritable but were labeled as idiopathic Total number of patients exceeds sample size as patients
with both steroid-induced and disease-causing cataracts (eg,
in the absence of other affected family members or an
JIA with iritis) are included in both categories.
identifiable cause. b
Previously reported in Wilson ME, Levin AV, Trivedi RH, et al,
The authors acknowledge that it is difficult to identify Cataract associated with type-1 diabetes mellitus in the pediat-
the cause of cataract or glaucoma in patients with iritis ric population. J AAPOS 2007;11(2):162–165.
who are also receiving steroids. Patients with cataracts in c
Includes hypothyroidism, Behçet disease, and psoriasis with
the presence of iritis were labeled to have “iritis-induced uveitis.
cataracts” even if they were being treated with topical or
systemic steroids. Patients with “steroid-induced cataracts”
included those whose disease control required systemic
steroids as well as those on topical steroids. Likewise, change to another agent known to have a lesser effect on
patients whose systemic disease control specifically re- intraocular pressure (eg, switching from prednisolone ace-
quired systemic steroids and those on topical steroids were tate 1% to fluorometholone).
included in the category “diseases with steroid-induced Presenting visual acuity was recorded using projected
cataracts.” Patients with glaucoma in the presence of iritis Snellen distance or Allen picture charts. In infants and
were labeled to have “iritis-induced glaucoma” even if they preliterate young children, if preferential-looking data
were being treated with topical or systemic steroids, unless were unavailable, visual acuity was recorded subjectively as
there was clearly an elevation of intraocular pressure that “central, steady, maintained” (CSM) and other descriptive
was relieved by the discontinuation of steroids or the qualitative designations (Figure).

888 AMERICAN JOURNAL OF OPHTHALMOLOGY JUNE 2010

 TABLE 3. Organ System Involvement Observed With
Nonsyndromic Pediatric Cataractsa
Number of Patients
Organ System (n ⫽ 99) [%]
Central nervous system 48 [48.5]
Respiratory system 19 [19.2]
Gastrointestinal system 9 [9.1]
Cardiovascular system 8 [8.1]
Urologic system 6 [6.1]
Limbs and skeletal system 5 [5.1]
Facial anomalies 3 [3.0]
Skin 1 [1.0]
a
Excludes patients who have cataract-causing diseases or
syndromes.
SPSS statistical software was used to analyze the data. ␹2
and McNemar tests for categorical variables were used with
P values of ⬍.05 considered statistically significant.
RESULTS
A TOTAL OF 1122 EYES IN 778 CHILDREN WERE IDENTIFIED.
55.5% (432/778) had unilateral cataracts. The right eye
was involved in 25.4% (198/778) of cases and the left in
30.0% (234/778) of cases, with the remaining 44.5%
(346/778) bilaterally involved. Males comprised 56.2%
(437/778) of patients. The median age at presentation was
42.0 months.
The most common diagnostic classification was idio-
pathic (58.2% [453/778]), followed by traumatic (12.9%
[100/778]) and inherited (11.7% [91/778]) cataracts (Ta-
ble 1). As a group, the most common systemic associations
were diseases with steroid treatment–induced cataracts
(44.2% [57/129]) and juvenile idiopathic arthritis (18.6%
[24/129]) (Table 2). Of the 68 patients who were on
steroids, 54.4% (37/68) were on systemic steroids only,
16.2% (11/68) on topical steroids only, and the remaining
29.4% (20/68) were on both. There were 11 cases of
congenital infections, with rubella the etiology in 6 cases.
Among isolated cataracts, 61.9% (280/453) were uni-
lateral (P ⬍ .001, odds ratio 1.9). Among bilateral cases,
50.9% (176/346) were isolated. Among cases with a
systemic cause other than syndromes, only 36.0% (46/129)
were unilateral (P ⬍ .001, odds ratio 2.4). For those with
a family history, 82.4% (75/91) were bilateral (P ⬍ .001,
odds ratio 7.2).
A total of 73.7% (73/99) of cataracts associated with
other isolated ocular anomalies occurred unilaterally. Per-
sistent fetal vasculature (PFV) accounted for 10.6% (46/
432) of all unilateral and 1.7% (6/346) of all bilateral
cases. Overall, there were 6 cases of bilateral PFV among
the 52 PFV-associated cataract cases (11.5%).
VOL. 149, NO. 6 PEDIATRIC CATARACT ETIOLOGY
TABLE 4. Syndromes Observed With Pediatric Cataracts
Number of Patients
Syndrome (n ⫽ 56) [%]
Down syndrome 18 [32.1]
Sturge-Weber syndrome 5 [8.9]
Trisomy 13 3 [5.4]
WAGR syndrome (Wilms tumor, aniridia,
genital abnormalities, retardation) 3 [5.4]
Neurofibromatosis type 1 2 [3.6]
CHARGE association 2 [3.6]
Stickler syndrome 2 [3.6]
Chondrodysplasia punctata 2 [3.6]
Myotonic dystrophy 2 [3.6]
Othera 17 [30.4]
a
Includes 1 case each of the following syndromes: Alport,
Conradi-Hunermann, Kostman, Ehlers-Danlos, Hallermann-St-
reiff, Kleinfelter, Lawrence-Moon, Leigh, Lowe, MIDAS, Norrie,
Axenfeld-Rieger, Walker-Warburg, opsoclonus-myoclonus, ac-
romelic dysplasia, Duchenne muscular dystrophy, mitochondrial
myopathy syndromes.
Where specific disease patterns could not be identified,
isolated central nervous system anomalies such as micro-
cephaly, ventriculomegaly, and sensorineural hearing loss
were most likely to be associated with cataracts (Table 3).
Of the syndromes observed with cataracts, Down syn-
drome comprised almost a third of cases (Table 4). The
median age at presentation of these 18 children was 2.0
months. A third (6/18) had dense total or near-total
cataracts, followed next by posterior subcapsular (18.2%
[3/18]) and nuclear (15.2% [2/18]) cataracts. The majority
(72.2% [13/18]) had bilateral cataracts. Sixteen of the 18
patients (88.9%) required cataract surgery, with a median
age at surgery of 3.3 months. Ten patients (55.6%) had
strabismus. Six (33.3%) had other ocular anomalies.
For cataracts associated with all syndromes, 70.0%
(39/56) were bilateral (P ⬍ .001, odds ratio 3.2).
A total of 84.0% (942/1122) of eyes had a record of
cataract morphology. The most common type of cataract
was posterior subcapsular cataract, of which 22.6% (79/
349) were related to steroid usage. Table 5 depicts the
frequency distribution of the various morphologic types of
cataracts. Of the 778 children studied, in 9.2% (32/346) of
bilateral cases the morphology was not concordant be-
tween the 2 eyes.
The prevalence of strabismus in our series was 21.5%
(167/778). When comparing presence of strabismus in
patients with unilateral versus bilateral cataracts, almost
two thirds (61.7% [103/167]) with strabismus had unilat-
eral cataracts (P ⫽ .066). Of those with strabismus
preoperatively or postoperatively, 13.2% (22/167) had
PFV, compared to 5.7% (3/52) with PFV without strabis-
mus (P ⬍ .0001).
889
 TABLE 5. Morphologic Types of Pediatric Cataracts
Type of Cataract
Posterior subcapsular 170 [36.2]; 43 occurred in patients on oral or
topical steroids (includes patients with iritis)
Total
Nuclear
Anterior polar (dot, traction congenital iris
strand, anterior lenticonus, anterior
subcapsular, and pyramidal)
Lamellar
Cortical
Othera
Pulverulent
a
Includes traumatic, sutural, cuneiform, oil droplet, zonular.
Presenting vision levels are depicted (Figure). The
majority presented with Snellen 6/9 or better vision
(21.2% [165/778]) and CSM vision (27.8% [216/778]),
which was obtained in the younger patients when quanti-
tative measures of vision could not be used.
DISCUSSION
SLIGHTLY OVER HALF OF THE CATARACTS IN OUR STUDY
(55.5% [432/778]) were unilateral. One study found that
overall, 47% of cases were unilateral, although isolated
cataracts were more often unilateral whereas infants with
multiple defects or syndromes more often had bilateral
cataracts.4 Another study found a lower unilaterality rate
of 36.4%.6 Our larger data set suggests a higher incidence
of unilateral cataract perhaps because we included nonsur-
gical cases.
Slightly over half of our patients had cataracts of
unknown etiology despite examination of their parents and
siblings and, where indicated, laboratory investigations.
We do not do extensive routine systemic investigations,
although infectious, metabolic, and/or genetic testing were
pursued when there were other clinical indicators. A
Danish epidemiologic study of congenital/infantile cata-
racts found the proportion of idiopathic cases to be 63%.6
Others state that at least 50% of bilateral cataracts and an
even higher percentage of unilateral infantile cataracts are
idiopathic.7 As The Hospital for Sick Children in Toronto
is a regional tertiary and quaternary center for pediatrics, it
may be the preponderance of other systemic and ocular
diagnoses that diluted the incidence figures for our “iso-
lated inherited cataracts” group.
Idiopathic cataract is a diagnosis of exclusion. A metabolic
and genetic examination tailored, with the assistance of a
pediatrician, according to the medical and developmental
history may be indicated when there are no other clear
etiologic factors (eg, trauma, ocular malformation syn-
dromes). Our study was not designed to examine the utility of
890 AMERICAN JOURNAL
Right Eye (n ⫽ 470) [%] Left Eye (n ⫽ 468) [%]
179 [38.2]; 36 occurred in patients on oral or
topical steroids (includes patients with iritis)
102 [21.7] 95 [20.3]
75 [16.0] 72 [15.4]
43 [9.1] 45 [9.6]
28 [6.0] 22 [4.7]
24 [5.1] 28 [6.0]
20 [4.3] 18 [3.8]
8 [1.7] 9 [1.9]
various protocols for systemic investigation. Perhaps more
important is the appropriate screening for cataracts in pa-
tients at risk because of family history, systemic disease or
treatment known to be associated with cataract.
Another affected family member was found in 11.7%
(91/778) of our cases. An Australian study found familial
cases accounting for one fifth of congenital and pediatric
cataracts.8 The Danish study found the incidence of
hereditary cataracts to be 23% of congenital/infantile
cases.6 A study in the United Kingdom found 56% of
bilateral cases and 6% of unilateral cases associated with
hereditary disease, although these figures included cases
with associated systemic disorder as well as those with
multi-system dysmorphic syndromes.9 We are uncertain as
to why our incidence of genetic cataracts was lower than
other studies. Some of our idiopathic cataracts will likely
be heritable but remain unrecognized as such until future
generations with affected individuals arise or molecular ge-
netic testing becomes commonly available for clinical use.
Where associated with systemic disease, we found that
more than half of cataracts were steroid-induced or other-
wise iatrogenic (eg, radiation). The next most common
cause was juvenile idiopathic arthritis–associated iritis,
although some of these cataracts may have been steroid-
induced as well. Studies have not clearly established a
relationship between the incidence of cataracts and the
dosage or duration of steroid therapy.10,11 Uveitis itself can
also cause cataract and often the relative contribution of
the iritis versus the steroids is impossible to determine.
With regard to intrauterine infection–associated cases,
implementation of rubella immunization has likely re-
sulted in our very low reported numbers of infection-
associated cataracts, even though rubella still accounted
for the majority of cases, with the next most common
being cytomegalovirus infection.
Where associated with isolated ocular anomalies, uni-
lateral cataracts comprised almost three quarters of cases.
In the United Kingdom study of associated factors in
OF OPHTHALMOLOGY JUNE 2010
congenital cataract, PFV occurred in 2 of 160 (1.25%)
bilateral cases, and 18 of 83 (21.6%) unilateral cases.9 We
found a similar rate in all bilateral cases and a slightly
lower rate of 10.6% (46/432) in all unilateral cases.
An American study of infantile cataracts found a syn-
drome association rate of 11.6%, with trisomy 13 being the
most common.4 We found a slightly lower rate of syn-
drome-associated cataracts (7.2% [56/778]), with trisomy
21 accounting for almost a third of cases. This was also the
case in the Danish study, with trisomy 21 accounting for
almost 50% of syndrome cases.6 In a more detailed study of
trisomy 21–associated cataracts, the same investigators
found a prevalence rate of 2.8% among its pediatric cohort
of patients.12 Similarly, ours was 2.3% (18/778). Twenty-
seven of their 29 cases (93.1%) were bilateral, of which a
third presented in the neonatal period. Our bilaterality
rate was 72.2% (13/18). Fourteen of their 29 patients
(48.3%) required cataract surgery; in contrast, 16 of our 18
patients (88.9%) required similar intervention. It may be
that only optically significant cataracts in this subgroup of
patients were referred to our center for management,
which would explain our higher rate of surgery. In the
United Kingdom study of associated factors in congenital
cataract, 8 of the 13 children with trisomy 21–associated
cataracts were diagnosed in the neonatal period.9 Our
median age at presentation was 2.0 months. Clearly, early
ophthalmic evaluation of infants with trisomy 21 is impor-
tant, to identify and enable treatment of optically signifi-
cant cataracts. Identification of other rarer syndromes
known to be associated with cataracts is also critical to
allow for appropriate screening and intervention. Full
physical examination should thus be part of the evaluation
of all children without an otherwise obvious cause for their
cataracts.
Posterior subcapsular cataract was the most common
morphologic type, with 22.6% (79/349) contributed by
THIS STUDY WAS SUPPORTED IN PART BY BRANDAN’S EYE RESEARCH FUND, VAUGHAN, ONTARIO, CANADA. HOWEVER, THE
funding organization had no role in the design or conduct of this research. None of the authors has any financial or conflicting interests to disclose.
Involved in design of study (Z.L., S.R., A.V.L.); conduct of study (Z.L., S.R., A.V.L.); collection (Z.L., S.R.), management (Z.L.), analysis (Z.L., Y.H.C.),
and interpretation of data (Z.L., Y.H.C., A.V.L.); and preparation (Z.L., A.V.L.), review (A.V.L.), and approval of manuscript (Z.L., S.R., Y.H.C.,
A.V.L.). This study was approved by the Research Ethics Board of The Hospital for Sick Children (HSC), Toronto, Ontario, Canada.
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REPORTING VISUAL ACUITIES

The AJO encourages authors to report the visual acuity in the manuscript using the same nomenclature that was used in
gathering the data provided they were recorded in one of the methods listed here. This table of equivalent visual acuities
is provided to the readers as an aid to interpret visual acuity findings in familiar units.

Table of Equivalent Visual Acuity Measurements

Snellen Visual Acuities

4 Meters 6 Meters 20 Feet Decimal Fraction LogMAR

4/40 6/60 20/200 0.10 ⫹1.0

4/32 6/48 20/160 0.125 ⫹0.9
4/25 6/38 20/125 0.16 ⫹0.8
4/20 6/30 20/100 0.20 ⫹0.7
4/16 6/24 20/80 0.25 ⫹0.6
4/12.6 6/20 20/63 0.32 ⫹0.5
4/10 6/15 20/50 0.40 ⫹0.4
4/8 6/12 20/40 0.50 ⫹0.3
4/6.3 6/10 20/32 0.63 ⫹0.2
4/5 6/7.5 20/25 0.80 ⫹0.1
4/4 6/6 20/20 1.00 0.0
4/3.2 6/5 20/16 1.25 ⫺0.1
4/2.5 6/3.75 20/12.5 1.60 ⫺0.2
4/2 6/3 20/10 2.00 ⫺0.3

From Ferris FL III, Kassoff A, Bresnick GH, Bailey I. New visual acuity charts for clinical research. Am J Ophthalmol 1982;94:91–96.

892 AMERICAN JOURNAL OF OPHTHALMOLOGY JUNE 2010