SURVEY OF OPHTHALMOLOGY VOLUME 48 • NUMBER 2 • MARCH–APRIL 2003

MAJOR REVIEW

The Morphology and Natural History

of Childhood Cataracts
Luis Amaya, MD, David Taylor, FRCOph, Isabelle Russell-Eggitt, FRCOph,
Ken K. Nischal, FRCOph, Dora Lengyel, MD

Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom

Abstract. The morphology of congenital cataract reflects a combination of the timing and nature of the
cause, the anatomy of the lens including its capsule, its development, and changes that take place with
time. Morphology may variably affect prognosis, give a clue to the etiology and the age of onset and, in an
isolated case, sometimes suggest heritability. The spectrum of morphological variations is enormous and
can be complex. A comprehensive approach is to classify the variations according to the area of the lens
involved, and sub-dividing them by a detailed description of the shape and appearance. Each specific mor-
phological type is then analyzed determining the etiology, visual prognosis, and management. The use of
gene markers has allowed many of these variations to be identified and categorized. Cataracts in child-
hood can involve the whole lens, in which case they are called total, Morgagnian, or disk-like. They can
affect only the center of the lens: lamellar, nuclear, oil droplet, cortical, or coronary. They can be ante-
rior: anterior polar, anterior subcapsular, or anterior lenticonus. The posterior aspect of the lens can also
be affected in different fashions: Mittendorf’s dot, posterior lenticonus, posterior cortical cataracts, or
posterior subcapsular. There are five more forms that must be described separately: punctuate lens opaci-
ties, sutural cataracts, coralliform or crystalline, wedge-shaped, and persistent hyperplastic primary
vitreous. (Surv Ophthalmol 48:125–144, 2003) © 2003 by Elsevier Science Inc. All rights reserved.)

Key words. cataract • childhood • embryology • infancy • morphology • natural history

I. Introduction tions. The use of gene markers is helping to identify

Lens opacities in infancy can have a wide spectrum of
presentations and variations, ranging from a minute
white dot in the anterior capsule to dense, total opacities
involving different structures of the lens. The nucleus
can be the only structure affected in some patients,
whereas in others it is clear and spared, but the cortex is
involved displaying different patterns of opacities; in
some other patients, the capsule is abnormal, leading to
alteration and opacification of cortical lamellae.
For many years, these striking morphological varia-
tions have puzzled clinicians and researchers, who
have tried to explain their cause.49,142 Even now, we
tend to ignore the reasons for the various presenta-
some forms and variations associated with a specific
locus in hereditary cases.
The visual prognosis may also vary according to the
morphological type. A description of the morphological
features of lens opacities may help to initiate manage-
ment lines, diagnostic work-up, therapeutic ap-
proach, feasibility of intraocular lens implantation, and
visual prognosis. Even in adults, there is little consensus
as to the visual significance of certain lens opacities be-
tween surgeons and researchers.73
This article describes, reviews, and discusses the
morphology of different lenticular abnormalities in
children.

125
© 2003 by Elsevier Science Inc. 0039-6257/03/$–see front matter
All rights reserved. doi:10.1016/S0039-6257(02)00462-9
126 Surv Ophthalmol 48 (2) March–April 2003
II. Lens Embryology and Growth
The morphology of a cataract is largely determined
by the anatomy of the lens and the timing and nature of
the insult that caused the abnormality by altering the
embryogenesis. The lens placode appears on the optic
vesicle which protrudes from the forebrain,118 around
the 25th day of gestation, it is a thickening of the sur-
face ectoderm, a single layer of cuboidal cells, that in-
vaginate into the neural ectoderm of the optic vesicle as
the lens pit, becoming free from the surface by the 33rd
day. The posterior cells elongate as primary lens fibers
that obliterate the lumen of the lens vesicle:133 the ret-
ina largely determines this cytodifferentiation.
The tiny developing lens is surrounded by a base-
ment membrane that will become the lens capsule and
is filled with nearly structureless primary lens fibers,
cells that expel their nuclei, mitochondria, Golgi bod-
ies, and endoplasmic reticulum. This structure be-
comes a spherical optically clear embryonic nucleus of
0.35 mm in diameter,133 which stays unchanged
throughout life,118 and is seen inside the Y sutures in the
fully developed eye.
Equatorial, secondary lens fibers, derived from
the anterior epithelium, migrate anteriorly under
the anterior epithelium and posteriorly directly be-
neath the capsule118 to meet each other at the su-
tures which can be seen easily with slit-lamp micros-
copy as an upright anterior Y, and an upside down
posterior Y; the limbs of the Ys are often branched.
Fibroblast growth factor (FGF)137 may induce this
differentiation. After birth, the equatorial fibers
grow to form the cortex, meeting at more complex
and less well-marked sutures: this growth continues
until very shortly after death. The tertiary vitreous
condenses within the space between the ciliary body
and the lens equator forming the suspensory liga-
ment of the lens at the fifth month of gestation.118
The developing lens requires nutrition that is ob-
tained through the tunica vasculosa lentis (TVL),
which is a vascular network, supplied posteriorly by
the hyaloid artery, a branch of the primary dorsal
ophthalmic artery, and anteriorly from an anastomo-
sis with vessels in the pupillary membrane.118 The
TVL is first seen at about 35 days, and is most promi-
nent at 65 days; it gradually regresses at about 85
days; by term birth, only whispy remnants of the pu-
pillary membrane are left, and a vestigial hyaloid ar-
tery (known as a Mittendorf’s dot) is attached to the
axial posterior surface of the lens.
III. Heterogeneity, Specific Morphological
Types, and the Effect of Morphology
on Visual Prognosis
Many cataracts are genetically determined, the ma-
jority of them being inherited in an autosomal domi-
AMAYA ET AL
nant pattern. As in many autosomal dominant condi-
tions, phenotypic heterogeneity is common in many of
these.7,36,99,126,185 Within a pedigree various morpholo-
gies can occur. It is not as simple as one gene mutation
causing one phenotype: other genes may modify ex-
pression. There are interocular185 and intrafamilial
morphological differences within a pedigree, especially
when inherited as an isolated abnormality. This was
noted in a study99 in which eight hereditary phenotypes
were identified. An interesting study of a four-genera-
tion family with members affected with isolated poly-
morphic autosomal dominant congenital cataract
demonstrates clear evidence of allelic heterogeneity.68
Cerulean and zonular pulverulent cataracts display this
same kind of heterogeneity although the abnormality
lies in the same locus at chromosome 13.126,221 Likewise,
variations between dense nuclear opacities and pulver-
ulent type within the same family, and even the two eyes
of same individuals, have been described.185 In contrast,
as is the case with anterior polar cataracts, the same
morphology can be the consequence of alterations in
different loci of different chromosomes.99,144,178 Certain
phenotypes (lamellar, pulverulent, polymorphic, coral-
liform, and cortical) seem to have good visual progno-
sis.70 PAX6 mutations can occasionally cause anterior
polar cataracts without aniridia.55
A. CATARACTS INVOLVING THE WHOLE LENS
Cataracts involving the whole lens are often of early
onset and, if so, have a profound effect on visual prog-
nosis: they may demand early surgery.39
1. Total Cataracts
A total cataract represents a general opacity of all the
lens fibers:54 some lenses are completely opaque when
first diagnosed. In other cases, they develop from
lamellar or nuclear cataracts. They are frequently
bilateral118 and may progress.22
Cataracts involving the whole lens occur in Down
syndrome, in acute metabolic cataracts, in congenital
rubella (where shaggy nuclear cataracts are more com-
mon), and can also be seen in familial46 or sporadic
cases105 as well as in some rare syndromes.31,43 Surgery is
usually indicated, and aggressive surgical management
is mandatory if a good visual prognosis is to be
achieved. They are also cosmetically significant, so in
cases where a good visual result is not expected, sur-
gery may be indicated for this reason. Total cataracts
have also been associated with posterior lenticonus.
2. Congenital Morgagnian Cataracts
These are uncommon, total, dense cataracts, named
after Giovanni Morgagni who described them in 1762;
the outer zones of the lens become liquefied, while the
nucleus remains intact. This allows the nucleus to fall
by gravity in any direction, depending on the position
CHILDHOOD CATARACTS
Fig. 1. Morgagnian cataract: intact nucleus in liquified outer zones falls by gravity in any direction. Left: sitting position,
Middle: upside down, Right: lying on the right side.
of the head (Fig. 1).20 The milky fluid was thought to
cause glaucoma after surgery in days before aspira-
tion.37 Eventually the fluid may be reabsorbed so that
the anterior and posterior capsules adhere above the
displaced nucleus;20,54 sometimes they can even com-
pletely reabsorb.14,20
3. Disk-like and Membranous Cataracts
Disk-like and membranous cataracts represent vary-
ing stages of reabsorption of the lens, which leaves
either a disk of lens material or a bag of milky or crystal-
line substance that can be dense and completely
opaque or thin and transparent; alternatively, the ante-
rior and posterior capsules fuse together (membranous
cataract).54 Reabsorption, which has been recognized
for centuries,1,181 can occur after trauma or can present
spontaneously. It has been described in congenital ru-
bella,16,57,192 in the Hallermann-Streiff syndrome,63,117,194,
206,225
it is common in PHPV,222 and has been described
in aniridia,228 in Lowe’s syndrome,77,117,211 and in a pa-
tient with the Pierre-Robin sequence;176 it may also oc-
cur after rupture of an anterior lenticonus.204
When reabsorption occurs mainly centrally, the
lens may take on a hollow doughnut,22 Polo, or life-
buoy sweet shape.38,74 Failure of development or re-
absorption may give rise to a sector-shaped membra-
nous cataract, where a dense opaque membrane of
whitish-grey tissue replaces the cortex.4
Surgery may be required; these cases are technically
more difficult, and intraocular lenses are unlikely to be
inserted easily into the bag. Ultrasound biomicroscopy
may be helpful in defining the surgical approach.
Sometimes the membrane is very thick.208
B. CENTRAL CATARACTS
1. Lamellar or Zonular Cataracts
Lamellar or zonular cataracts are common94,105
forms that involve one or more layers or zones of the
lens, as a shell of opacity,101 sandwiched between clear
127
nucleus and cortex22,117 (Fig. 2). It represents several
generations of secondary lens fibers, which have be-
come opacified in response to an insult when these fi-
bers were at their most metabolically active.22 The
opacity may be so dense as to render the entire central
region of the lens completely opaque, or so translucent
that vision is hardly if at all impeded.54 They are often
inherited as an autosomal dominant trait.126
Typically, they are bilateral but slightly asymmetrical,
sometimes with different degrees of opacification in
different meridians117 (Fig. 3); they are composed of
minute white dots in one or more layers of the lens,
not involving the embryonic nucleus, though some-
times involving the fetal nucleus. They are usually
sharply separated94 from a clear cortex outside them.
They are often incomplete,105 and they may have pro-
jections from their outer edges known as riders or
spokes (Fig. 3). There may be a tendency to increase in
density over a long period;40 some may become smaller
with increasing patient age by a process of compac-
tion.25 This reduction in equatorial diameter may re-
sult in improvement of vision in affected children.
However, three families have been observed in which
the cataract increases in size by the addition of new
Fig. 2. Lamellar cataract with small riders.
128 Surv Ophthalmol 48 (2) March–April 2003
Fig. 3. Left: Lamellar cataracts, right with riders in retro-illumination. Right: Partial lamellar lens opacities in retro-
illumination.
opaque lamellae superficial to the congenitally formed
opaque lamella.25 The visual prognosis, especially in
partial cataract, is probably better than in many other
morphological types;40,156,157 many cases can be man-
aged conservatively41,71 and surgery in infancy is rarely
necessary. There is often a marked interocular185 and
intrafamilial variability.5
Zonular cataracts have been mapped on chromo-
some 1q.171 The linkage of a gene causing a unique
form of autosomal dominant zonular cataracts with
Y-sutural opacities to chromosome 17q11-12 in a four-
generation family has been reported.155 The zonular
pulverulent (CZP1) has been mapped to chromosome
1q190 and 13q (CZP3).126 The CZP3 form of cataract is
thought to be due to mutations in the gene encoding
connexin-46 (CX46). More recently an autosomal re-
cessive late onset progressive pulverulent cataract with a
disease locus at 9q13-q22 has been identified.91 The
CZP1 form of cataract may be caused by mutation in
the alpha-8 subunit of the gap junction protein.227 Ta-
ble 1 lists the gene loci linked with cataract type, and Ta-
ble 2 summarizes the morphology and etiology of the
cataracts discussed in this review.
In general, lamellar cataracts have a better prognosis
than other morphological types.41 They can develop
gradually through childhood with a translucent opacity
that is not too dense, thus allowing a fairly adequate vi-
sual development without affecting the vision. Some in-
fants may not need surgery.41,71 However, some have a
worse visual outcome than others if the opacity starts
earlier during the lens development, if they are more
dense, and if they involve the center of the lens; in such
cases, profound ambyopia is common. Surgical man-
agement, when indicated, is easy, usually there is no
microphthalmos associated, and in the bag implanta-
tion of intraocular lenses can be an option at any age.
2. Central Pulverulent Cataracts
Central pulverulent cataracts are composed of myriad
(pulverized) tiny dots (Fig. 4). They are nonprogres-
AMAYA ET AL
sive, usually occurring bilaterally and vision is rarely
affected.22,54 They may be familial as in the autosomal
dominant Whalsay cataract,170 which affected descen-
dants of a Dane, born in 1745, who immigrated to the
Shetland Isles. A form of central pulverulent cataract
was an early example of genetic linkage to chromo-
some 16.134 This central pulverulent type described as
a “sharply defined circular disk placed deep in the
lens between the nucleus and the posterior pole” by
Nettleship and Ogilvie in members of the Coppock
family,150 was considered a specific type of lamellar
cataract which the authors distinguished from lamel-
lar cataract since it involves the embryonic nucleus
but this was without the benefit of the slit-lamp micro-
scope. Rosen177 found by slit-lamp examination that
this type of cataract was not discoid but central pulver-
ulent and that this morphological form was not con-
fined to the Coppock family; he suggested that the
name Coppock was deleted in favor of the term cata-
racta pulverulenta centralis. The eponym seems to have
stuck, being used in the publication describing a gene
locus123 in 1987. Some authors classify Coppock cata-
racts with nuclear cataracts99 because the Coppock cata-
ract involves the embryonic nucleus; this, and the pul-
verulent nature is what distinguishes it from others like
the polymorphic cataract described by Rogaev,175 which
does not involve the embryonic nucleus but has opaci-
ties extending from the fetal nucleus to the cortex.
It is caused by mutation in the gamma crystallin.152
The CAE cataract that is linked to the Duffy blood
group affects both the embryonic and the fetal nuclei
and is 4 mm in diameter.189 A very large pedigree has
been described by Priestly Smith.193
Marner134 described the Danish Olson family with
965 persons in nine generations. The ratio of the af-
fected to the nonaffected was 70:76. The typical cata-
ract appears as fine, dispersed, pulverulent opacities
in the embryonic nucleus; they are reported as being
progressive, showing later zonular or posterior sub-
capsular opacities, sometimes along the Y sutures.
CHILDHOOD CATARACTS 129

TABLE 1
Gene Loci Linked With Cataract Type
Cataract Type Pattern inheritance Author and reference Gene locus
189
Total AD Semina et al 10q24-25*****
Volkman, nuclear PD Eiberg et al58 1p36
Posterior Polar AD Yamada et al227 20p12-q12
Posterior Polar AD Ionides et al100 1p
Posterior Polar AD Berry V et al11 11q22-q22.3***
Zonular pulverulent AD Renwick and Lawler171 1q21-25
Zonular pulverulent AD Bateman et al6 17q23.1-23.2**
Pulverulent AR Heon et al91 9q13-q22
Coppock-like AD Lubsen et al123 2q33-36*
Breadcrumb-like AD Chang-Godnich A et al32 19
Polymorphic AD Rogaev et al175 2q33-35
Polymorphic (pulverulent) AD McKay et al126 13q11 (CX46)
Nuclear and lamellar AD Marner et al134 16q22.1
Nuclear X-Linked Francis et al69 Xp22
Anterior polar AD Berry et al12 17p
Zonular, sutural AD Padma et al155 17q11-12**
Zonular Central nuclear AD Ouax-Jeunken et al163 21q22-3***
Central pouchlike sutural AD Vanita et al214 15q21-22
Cerulean AD Armitage et al2 17q24
Cerulean AD Kramer et al113 22q11.2**
Punctate AD Stephan et al202 2q33-35*
Nance-Horan syndr X-LR Lewis et al120 Xp22.2-22.3
Nance-Horan syndr X-LR Zhu et al229 Xp22.2-22.3
AD  autosomal dominant, AR  autosomal recessive, X-LR  x-linked recessive *gamma crystallin, **beta A1 crystallin,
***alpha crystallin, ****CX46 Connexin 46, *****PITX3

They may progress in density and size. The gene lo-
cus has been linked to chromosome 16.
Stabile198 described a large kindred in Italy with 64
members in four generations, 25 of who were af-
fected by a form of congenital puverulent cataract
with diffuse fine opacities in both the nucleus and
the cortex. The involvement of the cortex distin-
guishes this form from the zonular pulverulent cata-
ract of Nettleship and Ogilvie.
They presumably are related to a transient distur-
bance of lens metabolism; although in most of them
no underlying cause is usually found. However, they
may occur in cases of known transient metabolic dis-
turbance, such as galactosemia,78,182 hypoglycemia,140
or hypocalcemia.22 The underlying pathogenic
mechanism may be related to a breakdown of the
lens fiber membrane.46 In some cases several layers
of opacity are interposed between normal lens fi-

TABLE 2
Morphology and Etiology of Cataracts
Total Down,10,44.metabolic, rubella16,57 AD,46 sporadic,105 syndromes31
Disk like Trauma, rubella,192 Hallermann-Streiff,63,117 PHPV,222 aniridia,228 Lowe,17,117 ruptured
anterior, lenticonus204
Anterior polar AD,99,139 aniridia, retinoblasoma,21 Piere-Robin
Anterior subcapsular Uveitis, trauma, irradiation, atopic, skin, Alport198
Anterior lenticonus Sporadic,42 X-Linked,76,116,216 AD,15,28,76,95,160,216 AR,160 hyperglycinuria,165 microcornea,15
Duane syndrome29
Posterior cortical AD129
Posterior subcapsular Myotonic dystrophies,60 Turner’s,60 Fabry’s,112 NFM 216
Lamellar (zonular) AD,134,150 galactosemia,78,182 hypoglicemia,140 hypoglycemia22
Nuclear AD,180 rubella,22,57 oil droplet,8,26 X-Linked,69 galactosemia8
Central pulverulent AD,162,170
Cortical AD99
Cerulean AD22
Coraliform AD88,149
Wedge-shaped Conradi,87 Stickler,75,187 NF2, Fabry67
Punctate Down,10,44 Lowe carriers,61 Nance-Horan carrier,13 Fabry67
AD  autosomal dominant, AR  autosomal recessive
130 Surv Ophthalmol 48 (2) March–April 2003 AMAYA ET AL

Fig. 4. Top left: Central pulverulent cataract with myriads

of tiny dots. Top right: Central Pulverulent (Coppock)
cataract. Bottom: Central pulverulent (Coppock) cataract
in retro-illumination.

bers, indicating periodic activity of the pathogenic (Fig. 5). These calcified white dots may escape lens
factor.140 In other cases all the layers were involved aspiration and can be found in the anterior cham-
and the cataract was maturing or even a bilateral ber of the aphakic eye.
dense lamellar cataract was found in two patients
4. Nuclear Cataracts
with a malformation of pilo-sebaceous follicles.146
Basti5 described 24 out of 48 members in a family These are opacities of more or less the entire em-
with morphological identical zonular cataracts in the bryonic or fetal nucleus,99 similar to lamellar cata-
second generation. In the third generation, the mem- ract, and are often not highly visually significant.
bers showed morphologic heterogeneity with the The density varies greatly from fine dots to a dense,
zonular opacity varying from a uniform lamella to a white and chalk-like, central cataract. They are static
segregation of dots. Six patients had a uniform zonu- and as the lens grows, the central opacity becomes
lar component, a pulverulent fetal nucleus comprising relatively less significant. The condition is usually bi-
discrete white dots and well defined, erect Y-shaped
anterior and inverted Y-shaped posterior sutural cata-
racts within the area enclosed by the zonular compo-
nent. There were no radially oriented opacities seen
in any of the lenses. Two additional members had cat-
aracts with zonular components consisting of fine
dots. The pulverulent fetal nucleus and sutural opaci-
ties seen in the six former patients were also present
but less well defined. Lamellar cataracts may be com-
bined with anterior and posterior polar or nuclear
opacities.105,230
3. “Ant Egg” Cataracts
Sometimes a central cataract is composed of
larger grainy white dots that are caused by secondary
calcification:184 these are known as “ant egg” cataracts173 Fig. 5. “Ant egg” cataract caused by secondary calcification.
CHILDHOOD CATARACTS
lateral.22, 54 They are often combined with opacified
cortical fibers encircling the nuclear opacity, which
are referred to as riders.117 They may be combined
with opacities of the sutures.99 Vogt’s anterior axial
embryonic cataract is a visually insignificant group of
opacities lying near, but posterior to the anterior up-
right Y. Vogt219 thought that it might be remnants of
primary lens fibers; Mann133 felt they were more
closely related to sutural development. Crystalline
nuclear cataracts have been described in association
with an abnormality of the hair.47
Bilateral nuclear opacities are the most common
autosomal dominant inherited form of cataract.180
Many large dominantly inherited pedigrees have been
reported, various with a high degree of penetrance
but with some variability in expression.50,97,124,180,185
Francis et al have recently identified a locus for iso-
lated cataract on chromosome Xp22.69
Dense nuclear opacities surrounded by a relatively
clear cortex have been described in the congenital ru-
bella syndrome.22,57 A combination with posterior polar
opacities was the most frequent combination found in a
large study of 146 eyes examined in northern India.105
Nuclear autosomal dominant opacities may be asso-
ciated with microphthalmos, and have a higher risk of
developing aphakic glaucoma after cataract sur-
gery.157 In certain patients, conservative manage-
ment is preferred if moderate vision is present to
avoid postoperative complications. However, if vision
is severely impaired, surgery is necessary.
5. Oil Drop Cataracts
This is classically seen in infants with galactosemia.
There is a central area of different refraction to the sur-
rounding lens that looks like an oil droplet floating on
water. Provided the metabolic condition is swiftly re-
solved, there is no residual trace, but if late treated or if
the diet is not strictly adhered to, a lamellar opacity
may develop and increase. Other forms of cataract oc-
cur in galactosemia, including posterior subcapsular,
Fig. 6. Left: Cerulean cataract, opacitites with sky-blue or sea-green hue. Right: Same patient as 6a in retro-illumination.
131
or small nuclear and cortical opacifications.8 They may
regress if dietary control is instituted early.8,26 A similar
ophthalmoscopic appearance (but not, of course,
cause) occurs in posterior lenticonus.188
6. Cortical Cataracts
Cortical cataract is unusual in childhood, a few fam-
ilies have been described with an autosomal domi-
nant inheritance.99 The onset of the cataract may be
post-natal, at least the visual defect may occur after in-
fancy. The nucleus is not involved; the opacity is re-
stricted to the outer cortex.
7. Cerulean, Floriform, or Coronary Cataracts
These frequently seen opacities have in common a
sky-blue or sea-green (cerulean) hue (Fig. 6), and can
be quite beautiful on slit lamp microscopy;218 other col-
ors may be seen, including red, such as in hyperfer-
ritinemia, or brown and opalescent white, resembling
breadcrumbs.32 They are autosomal dominant, early
onset, bilateral, largely stationary, and visually insignifi-
cant cataract, situated in the peripheral cortex.22 They
are often concentrated in the equatorial region of the
lens, and they have a variably sized dot-like shape,
sometimes they are elongated. The cerulean cataract
phenotype has been genetically mapped at chromo-
somal region 17q242 and 22q11.2-q13.1.114
Coronary cataracts are common elongated, or club-
shaped cerulean opacities that are concentrated in a
crown-like ring around the equator of the lens. There
is usually no significant effect on vision.22 The patho-
genesis and embryological origin of these cataracts is
obscure.
Koby’s floriform cataract111 (Fig. 7) is an autosomal
dominant form seen around the sutures, with oval or
annular elements, like the petals of a flower.22
C. ANTERIOR CATARACTS
Anterior polar cataracts are frequently hereditary
and even if seen in an isolated case may be new muta-
132 Surv Ophthalmol 48 (2) March–April 2003
Fig. 7. Left: Floriform cataract, elements like petals of a flower around the sutures. Right: Floriform cataract in retro-illumination.
tions, with recurrence risks to the patients’ children.
Generally, the visual prognosis is good.
1. Anterior Polar Cataracts
a. Dot-like Anterior Polar Cataracts
This relatively common opacification was described
early in the 20th century;37 these are tiny white dots
on the anterior surface of the lens in the axial area
that probably represent abnormalities of lens vesicle
detachment, they can be unilateral or bilateral; when
bilateral, they are usually symmetrical, a reminder of
the lens being normal.54 They are composed of tiny
dots, sometimes formed like a star (cataracta stel-
AMAYA ET AL
lata).92 They vary in size22,54 from one case to another,
from just a wrinkling of the capsule to up to a few mil-
limeters,102 and although they are often not, in them-
selves, visually significant,94 they may be associated
with refractive errors19 that can cause amblyopia and
strabismus.102 They are visible without a microscope,
which is why they are often diagnosed soon after
birth117 (Fig. 8). Usually static, they may occasionally
progress102,147 and become visually significant.
Some cases are inherited as an autosomal domi-
nant trait.139 They have been described in associa-
tion with a familial 3:18,178 and a 2:14 chromosomal
translocation.144 A new locus is identified on the
Fig. 8. Top left: Dot-like anterior polar cataract. There are
two cataracts, the larger above and the smaller below, out-
lined in a light reflex. Top right: There are two anterior cata-
racts: The anterior one (above the purkinje image of the slit
lamp mirror) involves the capsule, the posterior one in the
anterior cortex. This patient’s son had anterior polar
cataracts. Bottom: An anterior polar cataract with stress lines
in the anterior capsule.
CHILDHOOD CATARACTS 133

Fig. 9. Left: Plaque-like anterior polar cataract with remnants of the pupillary membrane. Right: Small plaque-like anterior
polar cataract with remnants of the pupillary membrane in retro-illumination.

short arm of chromosome 17,12 locating the gene to
the region 17p12-13.99 They are very frequent in
aniridia and have been reported in association with
retinoblastoma21,72 and cerebral malformations.158
There are families described with anterior polar cat-
aracts and cornea guttata.52,53,151,210
Most cases do not warrant surgery, if surgery is indi-
cated, the anterior capsulorrhexis is liable to tear out.
All cases should be followed throughout their years of
visual development. In cases where visual function is
equivocal, careful visual assessment, including the use
of forced choice preferential looking, is mandatory. Cy-
cloplegic refraction is essential as there may be associ-
ated astigmatism associated with radial capsular wrinkle
formation from the central opacity.19 Association with
corneal astigmatism has also been reported.18 Rarely is
there sufficient progression of the opacity to require
surgery.
b. Plaque-like Anterior Polar Cataracts
Occasionally these axial, plaque-like opacities are as-
sociated with a persistent pupillary membrane22 (Fig.
9). The embryological origin may be different: perhaps
the dot-like opacities are related to abnormalities of
lens placode invagination, and lens vesicle detach-
ment, whereas the plaque-like ones are caused by ab-
normalities of pupillary membrane regression. Some
cases of persistent pupillary membrane may appear to
be associated with a plaque-like anterior polar cata-
ract,139 but may be separable at surgery;203 caution is
advisable in undertaking such surgery. They may be as-
sociated with corneal opacities.22 The management is
similar to the dot-like variety: surgery is indicated only
if it interferes with the development of vision or if in an
older child the vision is inadequate for the child’s edu-
cational and social needs. Dilating the pupils may
sometimes improve vision.
c. Anterior Pyramidal Cataracts
These are the severe form of dot-like opacities;
these probably also represent anomalies of lens vesi-
cle detachment; they are larger axial opacities than
the dot-like anterior polar cataracts, they may even ex-
tend anteriorly and, rarely, fuse with the cornea (Fig.
10), which may be opaque at this area.94 They are fi-
brous, more likely to be visually significant than ante-

Fig. 10. Left: Small anterior pyramidal cataract. Right: Anterior pyramidal cataract extending anteriorly and fusing with
cornea in a patient with aniridia.
134 Surv Ophthalmol 48 (2) March–April 2003
rior polar cataracts, and can even progress. They may
become detached209 and form an anterior chamber
foreign body;23 surprisingly, they cause little reaction
over a number of years. There may be an associated
anterior subcapsular lens opacity that may progress,
in which case surgery is the usual outcome.
They are usually bilateral and bilaterally symmetri-
cal. Histological studies demonstrate a reduplication
of the lens capsule that effectively surrounds a polar
opacity composed of spindle-shaped epithelial cells
and collagen fibrous tissue, with a notable absence
of epithelial cells at the base of the pyramidal opac-
ity; there is only an extremely thin lens capsule sepa-
rating the pyramidal cataract from the anterior cor-
tical lens fibers.223 It has been suggested that the
progressive cortical opacification involved in certain
pyramidal cataracts is due to epithelial cell dysfunc-
tion.34 When hereditary, dominant inheritance pat-
tern is the rule.54
2. Anterior Subcapsular Cataracts
Anterior subcapsular cataracts are usually associ-
ated with acquired disease such as uveitis, trauma, ir-
radiation, or atopic skin disease (where the lens opac-
ity has a classic shield-like appearance), but they may
be part of a more widespread cataract; they may rarely
be associated with anterior lenticonus, such as that
seen in Alport’s syndrome, or with a pulverulent cata-
ract.198 Opacities may be subtle without significantly
affecting vision, however, in some patients, vision is
reduced, and surgery needs to be considered. The ex-
act role of connective tissue growth factor in the etiol-
ogy of anterior subcapsular cataracts is unclear despite
evidence of its expression in such lens opacities.197,226
3. Anterior Lenticonus
Anterior lenticonus (Fig. 11) is less common than
the posterior variety, and it is most frequently encoun-
Fig. 11. Anterior lenticonus. The slit beam on the anterior
lens surface is more curved than usual. (Courtesy of Mr.
J.J. Kanski.)
AMAYA ET AL
tered in association with Alport’s syndrome of neph-
rotic haematuria and deafness. The lenticonus may be
a manifestation of a basement membrane disorder;81 it
can be congenital and is found in about 10% of af-
fected young children,103 but may increase in fre-
quency with time as larger series including older pa-
tients show an incidence of up to 30%.3 Cataracts are
not usually associated, except the posterior subcapsular
opacities associated with steroid treatment.
Anterior lenticonus has also been associated with
Lowe’s77 and Waardenburg’s syndromes.204 Even if
there are no lens opacities, high astigmatism due to
the lenticonus may affect the vision significantly, re-
quiring surgery.
D. POSTERIOR CATARACTS
Some posterior cataracts such as Mittendorff’s
dots (which never require surgery) and posterior
lenticonus may have a good visual prognosis, in the
latter because the visual defect may have a late onset.
Other posterior cataracts, if of congenital onset, may
be associated with a poor visual prognosis.
1. Mittendorf’s Dot
Mittendorf’s dot, also called the hyaloid body,205 rep-
resents the remains of the anterior end of the hyaloid
artery. It appears as a small axial or nasally paraxial
grey-white dot opacity at the posterior apex of the lens,
often associated with a thread-like structure, which rep-
resents remains of the anterior end of the hyaloid ar-
tery. It is, in itself, visually insignificant unless it is large
which is rare, and may then represent a mild form of
persistent hyperplastic primary vitreous (PHPV). Occa-
sionally it is associated with posterior lenticonus.28,110,133
Sometimes, it may be associated with a persistent hya-
loid artery, another similarity with PHPV. Usually they
are stable, not requiring surgery, but progression has
been noted.94
2. Posterior Lenticonus
Interest in lenticonus (Fig. 12), which was described in
the 19th century,60,141,145 increased with the widespread
use of the slit-lamp microscope.28,37,59,132,135,136,138,212,217 Pos-
terior lenticonus or lentiglobus is a unilateral or bilat-
eral and asymmetrical thinning and posterior bowing
of the posterior lens capsule centrally or peripher-
ally.121 This has variable effects on the adjacent lens cor-
tex; opacification42 sometimes occurs, or it may mani-
fest as a high degree of astigmatism (Fig. 13) that can
be irregular but without cataract. More severe cases
are associated with a progressive opacity of the lens
lamellae in the abnormal area,42 sometimes with a
dense discoid opacity of the posterior pole.29,215 It may
be present at birth109,131,145,188 or progress in the first
months of life,143 necessitating continued surveillance.
CHILDHOOD CATARACTS
Fig. 12. Left: Posterior lenticonus in retro-illumination showing the distortion in the red reflex. Right: Posterior lentico-
nus in direct and retro-illumination showing the oval defect in the posterior capsule and the multiple small opacities at
the interface of the lens cortex and vitreous.
Amblyopia is frequently present,33,109 but vision may
be improved by postoperative occlusion.42 Because
there is a possibility that the visual defect is acquired,
surgery may still be indicated even in cases where one
might normally expect a poor visual result; visual results
may be unexpectedly good, sometimes even better than
in other causes of infantile or congenital cataract.156
Surgery consists of lens aspiration through an an-
terior capsulorrhexis. A posterior capsulorrhexis is
usually performed with preservation of the vitreous
face, but it may be preferable to carry out an ante-
rior vitrectomy at the time of surgery; the surgery
can also be performed through a pars plana ap-
proach.191 Intraocular lens insertion into the capsu-
lar bag is possible in most cases, as the rest of the
capsule seems to be normal. The reason for the bet-
ter prognosis relates to the fact that the rest of the
eye is normal, as well as the relative severity of the vi-
sual effects of the cataracts itself, together with the
timing of the visual defect.
It is believed that the pathogenesis is due to a thin-
ning of the posterior capsule.110,132,183,207,212,217,220 Some-
Fig. 13. Mild posterior lenticonus causing an abnormal
red reflex and astigmatism.
135
times the junction between the lenticonic and the adja-
cent capsule is sharply defined.132 Presumably, the
cause of the cataract is largely mechanical;106 as the cap-
sule bows posteriorly there is progressive distortion of
the lens fibers themselves and cataract formation,
which can be rapid. Sometimes there may be a hyaloid
remnant attached to the lenticonic area.28,110,132 The
significance of this is not certain, but it may be that the
pathogenesis of these cases is different to the majority
without a hyaloid remnant.179
Although sporadic cases may exist,42 many are in-
herited as an x-linked76,179,216 or autosomal dominant
trait.15,28,76,95,160,179,216 Slit-lamp examination of relatives
is therefore important. Autosomal recessive inheri-
tance has also been suggested,160 but it is less clear.
Posterior lenticonus has been associated with micro-
cornea,15 hyperglycinuria,165 Duane’s syndrome,29 and
anterior lentiplanus.48
3. Posterior Cortical Cataracts
Nettleship and Ogilvie reported this abnormality
in the Coppock family from Oxfordshire.150 They de-
scribed a flat, sharply defined, circular disk lying be-
tween the nucleus and the posterior pole (Fig. 14),
sometimes involving the posterior suture in a faint
inverted Y. Their clinical assessment was without the
benefit of a slit-lamp microscope and what they de-
scribed was actually a central pulverulent cataract.
Posterior cortical lens opacities were found in com-
bination with anterior cortical opacities in the con-
genital retinal disinsertion syndrome,17 some of the
lenses showed also a lens coloboma in the lower nasal
quadrant. These opacities may be unilateral.
4. Posterior Subcapsular Cataracts
Posterior subcapsular cataracts can be described as
vacuolar or plaque opacities;60 the former being closer
to the posterior capsule and the latter more cortical.
136 Surv Ophthalmol 48 (2) March–April 2003
Fig. 14. Posterior cortical cataract.
The major histopathologic change in the plaque type is
the breakdown of the normally regular parallel rows of
lens fibers into rounded globules. Plaque-like opacities
may be seen in congenital cataract, myotonic dystro-
phies, and Turner’s syndrome.60 It is an important
type of cataract, as it decreases visual acuity early due
to its central or axial and posterior position.
Posterior subcapsular opacities adhering to suture
lines may be found in Fabry’s disease112 (Fig. 15),
and are typical after trauma, which often leads to a
swollen and very opaque lens,62 and later to a mem-
branous after-cataract.56 Posterior subcapsular and
cortical cataracts of presenile onset occur in neurofi-
bromatosis type 2.164
E. PUNCTATE LENS OPACITIES
Punctate lens opacities are characterized by
opaque dots scattered throughout the lens, quite dif-
ferent to the pulverulent type (Fig. 16). They vary in
size, are most usually situated in the peripheral cor-
tex,54 at the anterior and posterior poles,30 and they
increase with age. They were thought to arise from
excrescences of the capsule,98,104 but a subsequent
study has failed to corroborate this.174 They occur in
Fig. 15. Posterior sutural cataract in a patient with Fabry
disease.
AMAYA ET AL
Fig. 16. Perinuclear punctate cataract shown as a semilu-
nar row of white dots posterior to a clear nucleus. (Cour-
tesy of Mr. J.J. Kanski.)
13–20% of patients with Down syndrome,10, 44 earlier
studies suggested a lower prevalence,122 perhaps due
to the examination techniques used, only the more
significant opacities were included. Amiodarone
may cause axial punctate opacities together with an-
terior subcapsular opacities.66
In carriers of Lowe syndrome, punctate grey-white
opacities occur in all layers of the cortex, mainly in the
equatorial region,61 but not in the nucleus,24,35,107,119 they
increase in number with age, and, because these opaci-
ties may be found in the normal population, their num-
bers must be compared with age-matched controls.
A slowly progressive form of this morphological
type, which segregates as an autosomal dominant
trait, has been described; linkage analysis revealed
an alteration at 2q33-35 at the gamma crystallin clus-
ter.202 They have also been reported to occur in 50%
of patients with alopecia areata.166
F. SUTURAL CATARACTS
Opacities around or involving the sutures, more pos-
terior than anterior, are very common, and not usually
visually significant;205 they are often noted as an inci-
dental finding in a routine examination.117 In general
they are stationary, usually bilateral22,54 and familial.
They may range from an increased density of the su-
tures to a variety of whitish or cerulean dots clustered
around the sutures (Fig. 17), but may progress and
form nuclear or central cataracts.9,101 When there is
opacification of the anterior and posterior sutures,
they are called stellate cataract.139 If all three sutures
are affected equally, they are referred to as cataract
triradiata.205 Sometimes, sutural cataracts are the only
manifestation of involvement in asymptomatic rela-
tives. They may be inherited as an autosomal dominant
or x-linked recessive trait,22,101,115 and they have been
found in the female carriers of Nance-Horan syn-
drome, with affected males presenting with total con-
CHILDHOOD CATARACTS
Fig. 17. Cataract of the Y-shaped sutures, more pro-
nounced on two arms of the “Y.”
genital cataracts.229 A mild sutural cataract was de-
scribed in one eye of a Nance-Horan patient, whereas
the other eye had a severe extensive cataract.13 They
are rarely found in association with the sutures more
peripheral to the Y sutures.
Spaeth and Frost described patients with Fabry dis-
ease having a kind of shadow of wiggly spokes extend-
ing from the centre of the lens, appearing as narrow,
slightly feathery white lines radiating from the poste-
rior pole along the posterior capsule195 (Fig. 15).
A central pouch-like cataract with sutural opacities
in a large pedigree has been mapped to chromo-
some 15q21-22.214
G. CORALLIFORM OR CRYSTALLINE CATARACTS
These rare opacities84 are usually static, central, com-
plex cataracts that cut across normal anatomical
boundaries, which are composed of multiple coral-
like65,84 white or cerulean opacities. They are arranged
in a fusiform, or spindle-shaped fashion and may be
mainly bilateral85 radiating out in an axial direction
from the center of the lens never actually reaching the
capsule (Figs. 18 and 19). The anatomical arrange-
ment suggests that they may be due to a primary abnor-
Fig. 18. Coralliform cataract.
137
Fig. 19. Coralliform cataract.
mal arrangement of lens fibers. They are often visually
insignificant, and can be inherited as an autosomal
dominant trait.88,148,149,161 Crystalline congenital cata-
racts, with snowball-shaped clumps of crystals,22 are also
arranged without reference to the normal architecture
often in the most bizarre way.54,85
H. WEDGE-SHAPED CATARACTS
These opacifications occupy a sector of the lens, if
they are larger they are known as semilunar (Fig. 20).
They have been described in Conradi syndrome87
when it may represent an example of Lyonisation,
Stickler syndrome75,187,196 and in neurofibromatosis
type 2. In some cases of Fabry disease67 they appeared
as fine whitish subcapsular granulations disposed in a
wedge-shaped manner with the base at the equator.
I. PERSISTENT HYPERPLASTIC PRIMARY VITREOUS
Persistent hyperplastic primary vitreous (PHPV) is
an abnormality so often associated with congenital
cataract that it must be considered in any discussion
of congenital, especially unilateral, cataract manage-
ment. In 1854 Mackenzie128 described the associa-
Fig. 20. Wedge-shaped cataract in a patient (Left) and his
mother (Right).
138 Surv Ophthalmol 48 (2) March–April 2003
tion of congenital cataracts with PHPV and traction
of the ciliary processes. Before the advent of vitreous
cutting machines, the surgery was hazardous.37
It was first characterized in detail by Reese.167,168 It
consists of a developmental abnormality of the pri-
mary vitreous and hyaloid vascular system. The eye is
often microphthalmic. The cardinal features de-
scribed by Goldberg in 1997,79 under the name of
persistent fetal vasculature (PFV), include a persistent
pupillary membrane, iridohyaloid blood vessels, per-
sistence of the posterior fetal fibrovascular sheath of
the lens, a Mittendorf dot, a persistent vasa hyaloidea
propria and hyaloid artery, a Bergmeister’s papilla,
congenital non-attachment of the retina, macular ab-
normalities, optic nerve hypoplasia and dysplasia, and
malformations of the size and shape of the globe.
There is a membrane of very variable extent and
thickness behind, and usually inseparable from the
lens that is attached via the apices of its scalloped mar-
gins to the ciliary processes. The membrane itself is
relatively avascular, but there are usually vessels that
pass to the ciliary processes and the iris, with the hya-
loid vascular system present to a variable degree.125
The hyaloid vessels may be large but only very occa-
sionally there is significant flow and leakage from this
vessel may cause intralenticular haemorrhage116,129,130,213
(Figs. 21–24).
The lens itself may be of a normal size which gives
rise to a shallow anterior chamber as the retrolental
AMAYA ET AL
Fig. 21. Top left: Very mild PHPV plaque associated with a hya-
loid vessel (not visible). Top right: Same patient in retro-
illumination. Bottom: Small PHPV with anterior hyaliod ar-
tery in retro-ilumination.
membrane shrinks and thrusts it forward; if this hap-
pens, it usually occurs in the first months of life and
may be progressive, giving rise to glaucoma. The
lens may spontaneously reabsorb,222 making the an-
terior chamber deeper, but the eye is still said to be
at risk of dislocation of the ciliary body and hypo-
tony if the membrane is very thick.
PHPV was unusual in most congenital cataract sur-
gical series,172 the poor visual prognosis justifiably led
to conservative management. In one histopathologic
series,86 58% were unilateral without associated ocular
anomalies, 31% unilateral, with ocular anomalies,
and 11% were bilateral with ocular or systemic abnor-
malities. Systemic disease is so rare in unilateral PHPV
that routine investigation is unnecessary, but in bilat-
eral cases isolated PHPV must be distinguished from
the vitreoretinal dysplasias such as Norrie disease,
Walker-Warburg syndrome,90 or others. In the past
the main differential diagnosis was with retinoblas-
toma; now, with sophisticated ultrasound studies the
hallmark of the scalloped-edged membrane and
stretched ciliary processes in a micro-phalmic eye are
recognized.
The indications for surgery are threefold: first, to
prevent the complications of glaucoma and hypo-
tony, second for cosmesis, and third for vision. It is
known that, if treated as any other axial media opac-
ity in an infant, the visual prognosis may be suffi-
ciently good108 to warrant the arduous optical cor-
CHILDHOOD CATARACTS
Fig. 22. Left: PHPV retrolental membrane, cataract and multiple blood vessels between the plaque and the ciliary
body. Right: Same patient with cataract removed. There is an anterior capsulectomy shown as an approximately oval line.
rection and occlusion regime that is the same as that
for unilateral congenital cataract. Early surgery and
amblyopia therapy is mandatory and the visual re-
sults are probably better in the milder cases. The sur-
gery consists of removal of the lens and membrane
with a vitrectomy machine,159,186,199,200,201 but the
more extensive membranes require intraocular scis-
sors, and some advocate the use of intraocular di-
athermy. It is important to avoid cutting the ciliary
processes and to remove all of the membrane. If this
is not possible, the surgeon must make sure that a
ring of membrane is not left behind. Surgical com-
plications have been described.45 There are no accu-
rate figures, but it is highly likely that glaucoma,
hemorrhage, and retinal detachment are signifi-
cantly more frequent than in uncomplicated cata-
ract surgery; the parents should be counseled ac-
cordingly. In some cases early surgery may carry a
higher risk of secondary glaucoma than conservative
management. High frequency ultrasound examina-
tion may help plan the best entry site and has re-
vealed evidence of thickened anterior hyaloid face
Fig. 23. Severe PHPV with central dense core, largely re-
absorbed lens, and vascular connection between the
plaque and the iris.
139
playing a role in the formation of the retrolental
membrane.127
Intraocular lenses have been used,93 but except in
the mildest cases, the added risks due to the PHPV
itself make optical correction with contact lenses the
best approach. Spectacles may be used when the
child is being occluded but many older infants ob-
ject strongly to this treatment.
IV. The Untreated State
What happens to untreated congenital cataracts?
The growing cortex alters the shape of central
cataracts25 in that they are compacted at a decreasing
rate with increasing age, with the result that the eye
remains emmetropic despite changes in many of the
parameters that determine refraction.80 Many cata-
racts change so little with time that they can be man-
aged conservatively,41,42,50,51,71 and never require treat-
ment. Often, in lamellar cataracts, the child is able to
go through a normal education, perhaps with a little
extra help, and it is the desire to obtain a drivers li-
cense that brings about the surgery. Some cataracts
Fig. 24. Dense PHPV with partially reabsorbed lens and
stretched ciliary processes.
140 Surv Ophthalmol 48 (2) March–April 2003
progress rapidly; for instance, untreated galacto-
saemic oil-drop opacities become lamellar-like cata-
racts, but if medically treated, some of these cataracts
may disappear,8,26,38,82,169 or at least fail to progress.27,89,224
Monitoring of galactosemia dietary control by obser-
vation of the cataracts has been suggested.8 Many
progress very slowly: so slowly that serial visual func-
tion measurements need to be made to be sure that
the apparent deterioration is not related to the behav-
ior and performance of the child. Amplitude of ac-
commodation may be reduced in central cataracts
over 3 mm in diameter due to changes in the shape of
the cataract during accommodation.96
In a small proportion of untreated cataracts spon-
taneous reabsorption takes place16,57,63,74,77,83,128,176,181,
192,194,204,206,211,222,225,228
due to leakage of lens material,
degeneration, liquefaction and absorption, leaving
behind the fused capsular bag with a variable
amount of residual lens matter, looking biscuit-
shaped, with white flecks deposited inside the shriv-
eled capsular bag.192
The vision in late or untreated congenital cataracts is
very poor because of profound deprivation ambyopia,41
unless there has been some period of visual experience
in early life; examples of this today are few in devel-
oped countries. Fisher64 summarized the literature on
the vision of 16 cases recorded from the year 1728 who
were born blind with congenital cataract and acquired
vision later in life (between 7 and 46 years). The poor
visual performance despite optical correction is pre-
sumably a manifestation of the profound amblyopia af-
fecting these people.
V. Method of Literature Search
The majority of the references cited were ex-
tracted from the Reference Manager database of in-
fantile cataracts of Mr. David Taylor. The database
contains a selection of the relevant literature related
to cataracts in childhood and infancy covering more
than 100 years (since 1892). Some articles related to
genetic mapping were extracted via Medline and
Embase and reviewed. References 152, 153, 154, and
189 have been extracted from the OMIM (Online
Mendelian Inheritance in man) records. Although
the majority of the literature reviewed was in English
language, some French and German articles have
been referenced. The German language papers
were studied by one of the authors (Dora Lengyel).
Other languages have not been included. Some ad-
ditional references have been included as indicated
by the Editorial Office of Survey of Ophthalmology.
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man anterior subcapsular cataracts and membranes of pos- Great Ormond Street Hospital for Children, London, WC1N 3JH,
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