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

II. Lens Embryology and Growth nant pattern. As in many autosomal dominant condi-
tions, phenotypic heterogeneity is common in many of
The morphology of a cataract is largely determined
these.7,36,99,126,185 Within a pedigree various morpholo-
by the anatomy of the lens and the timing and nature of
gies can occur. It is not as simple as one gene mutation
the insult that caused the abnormality by altering the
causing one phenotype: other genes may modify ex-
embryogenesis. The lens placode appears on the optic
pression. There are interocular185 and intrafamilial
vesicle which protrudes from the forebrain,118 around
morphological differences within a pedigree, especially
the 25th day of gestation, it is a thickening of the sur-
when inherited as an isolated abnormality. This was
face ectoderm, a single layer of cuboidal cells, that in-
noted in a study99 in which eight hereditary phenotypes
vaginate into the neural ectoderm of the optic vesicle as
were identified. An interesting study of a four-genera-
the lens pit, becoming free from the surface by the 33rd
tion family with members affected with isolated poly-
day. The posterior cells elongate as primary lens fibers
morphic autosomal dominant congenital cataract
that obliterate the lumen of the lens vesicle:133 the ret-
ina largely determines this cytodifferentiation. demonstrates clear evidence of allelic heterogeneity.68
Cerulean and zonular pulverulent cataracts display this
The tiny developing lens is surrounded by a base-
same kind of heterogeneity although the abnormality
ment membrane that will become the lens capsule and
lies in the same locus at chromosome 13.126,221 Likewise,
is filled with nearly structureless primary lens fibers,
variations between dense nuclear opacities and pulver-
cells that expel their nuclei, mitochondria, Golgi bod-
ies, and endoplasmic reticulum. This structure be- ulent type within the same family, and even the two eyes
comes a spherical optically clear embryonic nucleus of of same individuals, have been described.185 In contrast,
0.35 mm in diameter,133 which stays unchanged as is the case with anterior polar cataracts, the same
morphology can be the consequence of alterations in
throughout life,118 and is seen inside the Y sutures in the
different loci of different chromosomes.99,144,178 Certain
fully developed eye.
phenotypes (lamellar, pulverulent, polymorphic, coral-
Equatorial, secondary lens fibers, derived from
liform, and cortical) seem to have good visual progno-
the anterior epithelium, migrate anteriorly under
sis.70 PAX6 mutations can occasionally cause anterior
the anterior epithelium and posteriorly directly be-
polar cataracts without aniridia.55
neath the capsule118 to meet each other at the su-
tures which can be seen easily with slit-lamp micros-
A. CATARACTS INVOLVING THE WHOLE LENS
copy as an upright anterior Y, and an upside down
posterior Y; the limbs of the Ys are often branched. Cataracts involving the whole lens are often of early
Fibroblast growth factor (FGF)137 may induce this onset and, if so, have a profound effect on visual prog-
differentiation. After birth, the equatorial fibers nosis: they may demand early surgery.39
grow to form the cortex, meeting at more complex 1. Total Cataracts
and less well-marked sutures: this growth continues
until very shortly after death. The tertiary vitreous A total cataract represents a general opacity of all the
condenses within the space between the ciliary body lens fibers:54 some lenses are completely opaque when
and the lens equator forming the suspensory liga- first diagnosed. In other cases, they develop from
ment of the lens at the fifth month of gestation.118 lamellar or nuclear cataracts. They are frequently
The developing lens requires nutrition that is ob- bilateral118 and may progress.22
tained through the tunica vasculosa lentis (TVL), Cataracts involving the whole lens occur in Down
which is a vascular network, supplied posteriorly by syndrome, in acute metabolic cataracts, in congenital
the hyaloid artery, a branch of the primary dorsal rubella (where shaggy nuclear cataracts are more com-
ophthalmic artery, and anteriorly from an anastomo- mon), and can also be seen in familial46 or sporadic
sis with vessels in the pupillary membrane.118 The cases105 as well as in some rare syndromes.31,43 Surgery is
TVL is first seen at about 35 days, and is most promi- usually indicated, and aggressive surgical management
nent at 65 days; it gradually regresses at about 85 is mandatory if a good visual prognosis is to be
days; by term birth, only whispy remnants of the pu- achieved. They are also cosmetically significant, so in
pillary membrane are left, and a vestigial hyaloid ar- cases where a good visual result is not expected, sur-
tery (known as a Mittendorf’s dot) is attached to the gery may be indicated for this reason. Total cataracts
axial posterior surface of the lens. have also been associated with posterior lenticonus.
2. Congenital Morgagnian Cataracts
III. Heterogeneity, Specific Morphological These are uncommon, total, dense cataracts, named
Types, and the Effect of Morphology after Giovanni Morgagni who described them in 1762;
on Visual Prognosis the outer zones of the lens become liquefied, while the
Many cataracts are genetically determined, the ma- nucleus remains intact. This allows the nucleus to fall
jority of them being inherited in an autosomal domi- by gravity in any direction, depending on the position
CHILDHOOD CATARACTS 127

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 nucleus and cortex22,117 (Fig. 2). It represents several
cause glaucoma after surgery in days before aspira- generations of secondary lens fibers, which have be-
tion.37 Eventually the fluid may be reabsorbed so that come opacified in response to an insult when these fi-
the anterior and posterior capsules adhere above the bers were at their most metabolically active.22 The
displaced nucleus;20,54 sometimes they can even com- opacity may be so dense as to render the entire central
pletely reabsorb.14,20 region of the lens completely opaque, or so translucent
that vision is hardly if at all impeded.54 They are often
3. Disk-like and Membranous Cataracts
inherited as an autosomal dominant trait.126
Disk-like and membranous cataracts represent vary- Typically, they are bilateral but slightly asymmetrical,
ing stages of reabsorption of the lens, which leaves sometimes with different degrees of opacification in
either a disk of lens material or a bag of milky or crystal- different meridians117 (Fig. 3); they are composed of
line substance that can be dense and completely minute white dots in one or more layers of the lens,
opaque or thin and transparent; alternatively, the ante- not involving the embryonic nucleus, though some-
rior and posterior capsules fuse together (membranous times involving the fetal nucleus. They are usually
cataract).54 Reabsorption, which has been recognized sharply separated94 from a clear cortex outside them.
for centuries,1,181 can occur after trauma or can present They are often incomplete,105 and they may have pro-
spontaneously. It has been described in congenital ru- jections from their outer edges known as riders or
bella,16,57,192 in the Hallermann-Streiff syndrome,63,117,194, spokes (Fig. 3). There may be a tendency to increase in
206,225
it is common in PHPV,222 and has been described density over a long period;40 some may become smaller
in aniridia,228 in Lowe’s syndrome,77,117,211 and in a pa- with increasing patient age by a process of compac-
tient with the Pierre-Robin sequence;176 it may also oc- tion.25 This reduction in equatorial diameter may re-
cur after rupture of an anterior lenticonus.204 sult in improvement of vision in affected children.
When reabsorption occurs mainly centrally, the However, three families have been observed in which
lens may take on a hollow doughnut,22 Polo, or life- the cataract increases in size by the addition of new
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 Fig. 2. Lamellar cataract with small riders.
128 Surv Ophthalmol 48 (2) March–April 2003 AMAYA ET AL

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 sive, usually occurring bilaterally and vision is rarely
opaque lamella.25 The visual prognosis, especially in affected.22,54 They may be familial as in the autosomal
partial cataract, is probably better than in many other dominant Whalsay cataract,170 which affected descen-
morphological types;40,156,157 many cases can be man- dants of a Dane, born in 1745, who immigrated to the
aged conservatively41,71 and surgery in infancy is rarely Shetland Isles. A form of central pulverulent cataract
necessary. There is often a marked interocular185 and was an early example of genetic linkage to chromo-
intrafamilial variability.5 some 16.134 This central pulverulent type described as
Zonular cataracts have been mapped on chromo- a “sharply defined circular disk placed deep in the
some 1q.171 The linkage of a gene causing a unique lens between the nucleus and the posterior pole” by
form of autosomal dominant zonular cataracts with Nettleship and Ogilvie in members of the Coppock
Y-sutural opacities to chromosome 17q11-12 in a four- family,150 was considered a specific type of lamellar
generation family has been reported.155 The zonular cataract which the authors distinguished from lamel-
pulverulent (CZP1) has been mapped to chromosome lar cataract since it involves the embryonic nucleus
1q190 and 13q (CZP3).126 The CZP3 form of cataract is but this was without the benefit of the slit-lamp micro-
thought to be due to mutations in the gene encoding scope. Rosen177 found by slit-lamp examination that
connexin-46 (CX46). More recently an autosomal re- this type of cataract was not discoid but central pulver-
cessive late onset progressive pulverulent cataract with a ulent and that this morphological form was not con-
disease locus at 9q13-q22 has been identified.91 The fined to the Coppock family; he suggested that the
CZP1 form of cataract may be caused by mutation in name Coppock was deleted in favor of the term cata-
the alpha-8 subunit of the gap junction protein.227 Ta- racta pulverulenta centralis. The eponym seems to have
ble 1 lists the gene loci linked with cataract type, and Ta- stuck, being used in the publication describing a gene
ble 2 summarizes the morphology and etiology of the locus123 in 1987. Some authors classify Coppock cata-
cataracts discussed in this review. racts with nuclear cataracts99 because the Coppock cata-
In general, lamellar cataracts have a better prognosis ract involves the embryonic nucleus; this, and the pul-
than other morphological types.41 They can develop verulent nature is what distinguishes it from others like
gradually through childhood with a translucent opacity the polymorphic cataract described by Rogaev,175 which
that is not too dense, thus allowing a fairly adequate vi- does not involve the embryonic nucleus but has opaci-
sual development without affecting the vision. Some in- ties extending from the fetal nucleus to the cortex.
fants may not need surgery.41,71 However, some have a It is caused by mutation in the gamma crystallin.152
worse visual outcome than others if the opacity starts The CAE cataract that is linked to the Duffy blood
earlier during the lens development, if they are more group affects both the embryonic and the fetal nuclei
dense, and if they involve the center of the lens; in such and is 4 mm in diameter.189 A very large pedigree has
cases, profound ambyopia is common. Surgical man- been described by Priestly Smith.193
agement, when indicated, is easy, usually there is no Marner134 described the Danish Olson family with
microphthalmos associated, and in the bag implanta- 965 persons in nine generations. The ratio of the af-
tion of intraocular lenses can be an option at any age. fected to the nonaffected was 70:76. The typical cata-
ract appears as fine, dispersed, pulverulent opacities
2. Central Pulverulent Cataracts in the embryonic nucleus; they are reported as being
Central pulverulent cataracts are composed of myriad progressive, showing later zonular or posterior sub-
(pulverized) tiny dots (Fig. 4). They are nonprogres- 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- They presumably are related to a transient distur-
cus has been linked to chromosome 16. bance of lens metabolism; although in most of them
Stabile198 described a large kindred in Italy with 64 no underlying cause is usually found. However, they
members in four generations, 25 of who were af- may occur in cases of known transient metabolic dis-
fected by a form of congenital puverulent cataract turbance, such as galactosemia,78,182 hypoglycemia,140
with diffuse fine opacities in both the nucleus and or hypocalcemia.22 The underlying pathogenic
the cortex. The involvement of the cortex distin- mechanism may be related to a breakdown of the
guishes this form from the zonular pulverulent cata- lens fiber membrane.46 In some cases several layers
ract of Nettleship and Ogilvie. 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 131

lateral.22, 54 They are often combined with opacified or small nuclear and cortical opacifications.8 They may
cortical fibers encircling the nuclear opacity, which regress if dietary control is instituted early.8,26 A similar
are referred to as riders.117 They may be combined ophthalmoscopic appearance (but not, of course,
with opacities of the sutures.99 Vogt’s anterior axial cause) occurs in posterior lenticonus.188
embryonic cataract is a visually insignificant group of
6. Cortical Cataracts
opacities lying near, but posterior to the anterior up-
right Y. Vogt219 thought that it might be remnants of Cortical cataract is unusual in childhood, a few fam-
primary lens fibers; Mann133 felt they were more ilies have been described with an autosomal domi-
closely related to sutural development. Crystalline nant inheritance.99 The onset of the cataract may be
nuclear cataracts have been described in association post-natal, at least the visual defect may occur after in-
with an abnormality of the hair.47 fancy. The nucleus is not involved; the opacity is re-
Bilateral nuclear opacities are the most common stricted to the outer cortex.
autosomal dominant inherited form of cataract.180 7. Cerulean, Floriform, or Coronary Cataracts
Many large dominantly inherited pedigrees have been
reported, various with a high degree of penetrance These frequently seen opacities have in common a
but with some variability in expression.50,97,124,180,185 sky-blue or sea-green (cerulean) hue (Fig. 6), and can
Francis et al have recently identified a locus for iso- be quite beautiful on slit lamp microscopy;218 other col-
lated cataract on chromosome Xp22.69 ors may be seen, including red, such as in hyperfer-
Dense nuclear opacities surrounded by a relatively ritinemia, or brown and opalescent white, resembling
clear cortex have been described in the congenital ru- breadcrumbs.32 They are autosomal dominant, early
bella syndrome.22,57 A combination with posterior polar onset, bilateral, largely stationary, and visually insignifi-
opacities was the most frequent combination found in a cant cataract, situated in the peripheral cortex.22 They
large study of 146 eyes examined in northern India.105 are often concentrated in the equatorial region of the
Nuclear autosomal dominant opacities may be asso- lens, and they have a variably sized dot-like shape,
ciated with microphthalmos, and have a higher risk of sometimes they are elongated. The cerulean cataract
developing aphakic glaucoma after cataract sur- phenotype has been genetically mapped at chromo-
gery.157 In certain patients, conservative manage- somal region 17q242 and 22q11.2-q13.1.114
ment is preferred if moderate vision is present to Coronary cataracts are common elongated, or club-
avoid postoperative complications. However, if vision shaped cerulean opacities that are concentrated in a
is severely impaired, surgery is necessary. crown-like ring around the equator of the lens. There
is usually no significant effect on vision.22 The patho-
5. Oil Drop Cataracts genesis and embryological origin of these cataracts is
This is classically seen in infants with galactosemia. obscure.
There is a central area of different refraction to the sur- Koby’s floriform cataract111 (Fig. 7) is an autosomal
rounding lens that looks like an oil droplet floating on dominant form seen around the sutures, with oval or
water. Provided the metabolic condition is swiftly re- annular elements, like the petals of a flower.22
solved, there is no residual trace, but if late treated or if
the diet is not strictly adhered to, a lamellar opacity C. ANTERIOR CATARACTS
may develop and increase. Other forms of cataract oc- Anterior polar cataracts are frequently hereditary
cur in galactosemia, including posterior subcapsular, and even if seen in an isolated case may be new muta-

Fig. 6. Left: Cerulean cataract, opacitites with sky-blue or sea-green hue. Right: Same patient as 6a in retro-illumination.
132 Surv Ophthalmol 48 (2) March–April 2003 AMAYA ET AL

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. lata).92 They vary in size22,54 from one case to another,
Generally, the visual prognosis is good. from just a wrinkling of the capsule to up to a few mil-
1. Anterior Polar Cataracts limeters,102 and although they are often not, in them-
selves, visually significant,94 they may be associated
a. Dot-like Anterior Polar Cataracts with refractive errors19 that can cause amblyopia and
This relatively common opacification was described strabismus.102 They are visible without a microscope,
early in the 20th century;37 these are tiny white dots which is why they are often diagnosed soon after
on the anterior surface of the lens in the axial area birth117 (Fig. 8). Usually static, they may occasionally
that probably represent abnormalities of lens vesicle progress102,147 and become visually significant.
detachment, they can be unilateral or bilateral; when Some cases are inherited as an autosomal domi-
bilateral, they are usually symmetrical, a reminder of nant trait.139 They have been described in associa-
the lens being normal.54 They are composed of tiny tion with a familial 3:18,178 and a 2:14 chromosomal
dots, sometimes formed like a star (cataracta stel- 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 dot-like opacities are related to abnormalities of
the region 17p12-13.99 They are very frequent in lens placode invagination, and lens vesicle detach-
aniridia and have been reported in association with ment, whereas the plaque-like ones are caused by ab-
retinoblastoma21,72 and cerebral malformations.158 normalities of pupillary membrane regression. Some
There are families described with anterior polar cat- cases of persistent pupillary membrane may appear to
aracts and cornea guttata.52,53,151,210 be associated with a plaque-like anterior polar cata-
Most cases do not warrant surgery, if surgery is indi- ract,139 but may be separable at surgery;203 caution is
cated, the anterior capsulorrhexis is liable to tear out. advisable in undertaking such surgery. They may be as-
All cases should be followed throughout their years of sociated with corneal opacities.22 The management is
visual development. In cases where visual function is similar to the dot-like variety: surgery is indicated only
equivocal, careful visual assessment, including the use if it interferes with the development of vision or if in an
of forced choice preferential looking, is mandatory. Cy- older child the vision is inadequate for the child’s edu-
cloplegic refraction is essential as there may be associ- cational and social needs. Dilating the pupils may
ated astigmatism associated with radial capsular wrinkle sometimes improve vision.
formation from the central opacity.19 Association with
c. Anterior Pyramidal Cataracts
corneal astigmatism has also been reported.18 Rarely is
there sufficient progression of the opacity to require These are the severe form of dot-like opacities;
surgery. these probably also represent anomalies of lens vesi-
cle detachment; they are larger axial opacities than
b. Plaque-like Anterior Polar Cataracts the dot-like anterior polar cataracts, they may even ex-
Occasionally these axial, plaque-like opacities are as- tend anteriorly and, rarely, fuse with the cornea (Fig.
sociated with a persistent pupillary membrane22 (Fig. 10), which may be opaque at this area.94 They are fi-
9). The embryological origin may be different: perhaps 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 AMAYA ET AL

rior polar cataracts, and can even progress. They may tered in association with Alport’s syndrome of neph-
become detached209 and form an anterior chamber rotic haematuria and deafness. The lenticonus may be
foreign body;23 surprisingly, they cause little reaction a manifestation of a basement membrane disorder;81 it
over a number of years. There may be an associated can be congenital and is found in about 10% of af-
anterior subcapsular lens opacity that may progress, fected young children,103 but may increase in fre-
in which case surgery is the usual outcome. quency with time as larger series including older pa-
They are usually bilateral and bilaterally symmetri- tients show an incidence of up to 30%.3 Cataracts are
cal. Histological studies demonstrate a reduplication not usually associated, except the posterior subcapsular
of the lens capsule that effectively surrounds a polar opacities associated with steroid treatment.
opacity composed of spindle-shaped epithelial cells Anterior lenticonus has also been associated with
and collagen fibrous tissue, with a notable absence Lowe’s77 and Waardenburg’s syndromes.204 Even if
of epithelial cells at the base of the pyramidal opac- there are no lens opacities, high astigmatism due to
ity; there is only an extremely thin lens capsule sepa- the lenticonus may affect the vision significantly, re-
rating the pyramidal cataract from the anterior cor- quiring surgery.
tical lens fibers.223 It has been suggested that the
progressive cortical opacification involved in certain
pyramidal cataracts is due to epithelial cell dysfunc- D. POSTERIOR CATARACTS
tion.34 When hereditary, dominant inheritance pat- Some posterior cataracts such as Mittendorff’s
tern is the rule.54 dots (which never require surgery) and posterior
lenticonus may have a good visual prognosis, in the
2. Anterior Subcapsular Cataracts latter because the visual defect may have a late onset.
Anterior subcapsular cataracts are usually associ- Other posterior cataracts, if of congenital onset, may
ated with acquired disease such as uveitis, trauma, ir- be associated with a poor visual prognosis.
radiation, or atopic skin disease (where the lens opac-
1. Mittendorf’s Dot
ity has a classic shield-like appearance), but they may
be part of a more widespread cataract; they may rarely Mittendorf’s dot, also called the hyaloid body,205 rep-
be associated with anterior lenticonus, such as that resents the remains of the anterior end of the hyaloid
seen in Alport’s syndrome, or with a pulverulent cata- artery. It appears as a small axial or nasally paraxial
ract.198 Opacities may be subtle without significantly grey-white dot opacity at the posterior apex of the lens,
affecting vision, however, in some patients, vision is often associated with a thread-like structure, which rep-
reduced, and surgery needs to be considered. The ex- resents remains of the anterior end of the hyaloid ar-
act role of connective tissue growth factor in the etiol- tery. It is, in itself, visually insignificant unless it is large
ogy of anterior subcapsular cataracts is unclear despite which is rare, and may then represent a mild form of
evidence of its expression in such lens opacities.197,226 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-
3. Anterior Lenticonus loid artery, another similarity with PHPV. Usually they
Anterior lenticonus (Fig. 11) is less common than are stable, not requiring surgery, but progression has
the posterior variety, and it is most frequently encoun- 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
Fig. 11. Anterior lenticonus. The slit beam on the anterior dense discoid opacity of the posterior pole.29,215 It may
lens surface is more curved than usual. (Courtesy of Mr. be present at birth109,131,145,188 or progress in the first
J.J. Kanski.) months of life,143 necessitating continued surveillance.
CHILDHOOD CATARACTS 135

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 times the junction between the lenticonic and the adja-
be improved by postoperative occlusion.42 Because cent capsule is sharply defined.132 Presumably, the
there is a possibility that the visual defect is acquired, cause of the cataract is largely mechanical;106 as the cap-
surgery may still be indicated even in cases where one sule bows posteriorly there is progressive distortion of
might normally expect a poor visual result; visual results the lens fibers themselves and cataract formation,
may be unexpectedly good, sometimes even better than which can be rapid. Sometimes there may be a hyaloid
in other causes of infantile or congenital cataract.156 remnant attached to the lenticonic area.28,110,132 The
Surgery consists of lens aspiration through an an- significance of this is not certain, but it may be that the
terior capsulorrhexis. A posterior capsulorrhexis is pathogenesis of these cases is different to the majority
usually performed with preservation of the vitreous without a hyaloid remnant.179
face, but it may be preferable to carry out an ante- Although sporadic cases may exist,42 many are in-
rior vitrectomy at the time of surgery; the surgery herited as an x-linked76,179,216 or autosomal dominant
can also be performed through a pars plana ap- trait.15,28,76,95,160,179,216 Slit-lamp examination of relatives
proach.191 Intraocular lens insertion into the capsu- is therefore important. Autosomal recessive inheri-
lar bag is possible in most cases, as the rest of the tance has also been suggested,160 but it is less clear.
capsule seems to be normal. The reason for the bet- Posterior lenticonus has been associated with micro-
ter prognosis relates to the fact that the rest of the cornea,15 hyperglycinuria,165 Duane’s syndrome,29 and
eye is normal, as well as the relative severity of the vi- anterior lentiplanus.48
sual effects of the cataracts itself, together with the
timing of the visual defect. 3. Posterior Cortical Cataracts
It is believed that the pathogenesis is due to a thin- Nettleship and Ogilvie reported this abnormality
ning of the posterior capsule.110,132,183,207,212,217,220 Some- 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
Fig. 13. Mild posterior lenticonus causing an abnormal vacuolar or plaque opacities;60 the former being closer
red reflex and astigmatism. to the posterior capsule and the latter more cortical.
136 Surv Ophthalmol 48 (2) March–April 2003 AMAYA ET AL

Fig. 14. Posterior cortical cataract. 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.)
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 13–20% of patients with Down syndrome,10, 44 earlier
may be seen in congenital cataract, myotonic dystro- studies suggested a lower prevalence,122 perhaps due
phies, and Turner’s syndrome.60 It is an important to the examination techniques used, only the more
type of cataract, as it decreases visual acuity early due significant opacities were included. Amiodarone
to its central or axial and posterior position. may cause axial punctate opacities together with an-
Posterior subcapsular opacities adhering to suture terior subcapsular opacities.66
lines may be found in Fabry’s disease112 (Fig. 15), In carriers of Lowe syndrome, punctate grey-white
and are typical after trauma, which often leads to a opacities occur in all layers of the cortex, mainly in the
swollen and very opaque lens,62 and later to a mem- equatorial region,61 but not in the nucleus,24,35,107,119 they
branous after-cataract.56 Posterior subcapsular and increase in number with age, and, because these opaci-
cortical cataracts of presenile onset occur in neurofi- ties may be found in the normal population, their num-
bromatosis type 2.164 bers must be compared with age-matched controls.
A slowly progressive form of this morphological
E. PUNCTATE LENS OPACITIES
type, which segregates as an autosomal dominant
Punctate lens opacities are characterized by trait, has been described; linkage analysis revealed
opaque dots scattered throughout the lens, quite dif- an alteration at 2q33-35 at the gamma crystallin clus-
ferent to the pulverulent type (Fig. 16). They vary in ter.202 They have also been reported to occur in 50%
size, are most usually situated in the peripheral cor- of patients with alopecia areata.166
tex,54 at the anterior and posterior poles,30 and they
increase with age. They were thought to arise from F. SUTURAL CATARACTS
excrescences of the capsule,98,104 but a subsequent
study has failed to corroborate this.174 They occur in 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
Fig. 15. Posterior sutural cataract in a patient with Fabry found in the female carriers of Nance-Horan syn-
disease. drome, with affected males presenting with total con-
CHILDHOOD CATARACTS 137

Fig. 17. Cataract of the Y-shaped sutures, more pro- Fig. 19. Coralliform cataract.
nounced on two arms of the “Y.”

genital cataracts.229 A mild sutural cataract was de- mal arrangement of lens fibers. They are often visually
scribed in one eye of a Nance-Horan patient, whereas insignificant, and can be inherited as an autosomal
the other eye had a severe extensive cataract.13 They dominant trait.88,148,149,161 Crystalline congenital cata-
are rarely found in association with the sutures more racts, with snowball-shaped clumps of crystals,22 are also
peripheral to the Y sutures. arranged without reference to the normal architecture
Spaeth and Frost described patients with Fabry dis- often in the most bizarre way.54,85
ease having a kind of shadow of wiggly spokes extend-
ing from the centre of the lens, appearing as narrow, H. WEDGE-SHAPED CATARACTS
slightly feathery white lines radiating from the poste- These opacifications occupy a sector of the lens, if
rior pole along the posterior capsule195 (Fig. 15). they are larger they are known as semilunar (Fig. 20).
A central pouch-like cataract with sutural opacities They have been described in Conradi syndrome87
in a large pedigree has been mapped to chromo- when it may represent an example of Lyonisation,
some 15q21-22.214 Stickler syndrome75,187,196 and in neurofibromatosis
type 2. In some cases of Fabry disease67 they appeared
G. CORALLIFORM OR CRYSTALLINE CATARACTS as fine whitish subcapsular granulations disposed in a
These rare opacities84 are usually static, central, com- wedge-shaped manner with the base at the equator.
plex cataracts that cut across normal anatomical I. PERSISTENT HYPERPLASTIC PRIMARY VITREOUS
boundaries, which are composed of multiple coral-
like65,84 white or cerulean opacities. They are arranged Persistent hyperplastic primary vitreous (PHPV) is
in a fusiform, or spindle-shaped fashion and may be an abnormality so often associated with congenital
mainly bilateral85 radiating out in an axial direction cataract that it must be considered in any discussion
from the center of the lens never actually reaching the of congenital, especially unilateral, cataract manage-
capsule (Figs. 18 and 19). The anatomical arrange- ment. In 1854 Mackenzie128 described the associa-
ment suggests that they may be due to a primary abnor-

Fig. 20. Wedge-shaped cataract in a patient (Left) and his


Fig. 18. Coralliform cataract. mother (Right).
138 Surv Ophthalmol 48 (2) March–April 2003 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.

tion of congenital cataracts with PHPV and traction membrane shrinks and thrusts it forward; if this hap-
of the ciliary processes. Before the advent of vitreous pens, it usually occurs in the first months of life and
cutting machines, the surgery was hazardous.37 may be progressive, giving rise to glaucoma. The
It was first characterized in detail by Reese.167,168 It lens may spontaneously reabsorb,222 making the an-
consists of a developmental abnormality of the pri- terior chamber deeper, but the eye is still said to be
mary vitreous and hyaloid vascular system. The eye is at risk of dislocation of the ciliary body and hypo-
often microphthalmic. The cardinal features de- tony if the membrane is very thick.
scribed by Goldberg in 1997,79 under the name of PHPV was unusual in most congenital cataract sur-
persistent fetal vasculature (PFV), include a persistent gical series,172 the poor visual prognosis justifiably led
pupillary membrane, iridohyaloid blood vessels, per- to conservative management. In one histopathologic
sistence of the posterior fetal fibrovascular sheath of series,86 58% were unilateral without associated ocular
the lens, a Mittendorf dot, a persistent vasa hyaloidea anomalies, 31% unilateral, with ocular anomalies,
propria and hyaloid artery, a Bergmeister’s papilla, and 11% were bilateral with ocular or systemic abnor-
congenital non-attachment of the retina, macular ab- malities. Systemic disease is so rare in unilateral PHPV
normalities, optic nerve hypoplasia and dysplasia, and that routine investigation is unnecessary, but in bilat-
malformations of the size and shape of the globe. eral cases isolated PHPV must be distinguished from
There is a membrane of very variable extent and the vitreoretinal dysplasias such as Norrie disease,
thickness behind, and usually inseparable from the Walker-Warburg syndrome,90 or others. In the past
lens that is attached via the apices of its scalloped mar- the main differential diagnosis was with retinoblas-
gins to the ciliary processes. The membrane itself is toma; now, with sophisticated ultrasound studies the
relatively avascular, but there are usually vessels that hallmark of the scalloped-edged membrane and
pass to the ciliary processes and the iris, with the hya- stretched ciliary processes in a micro-phalmic eye are
loid vascular system present to a variable degree.125 recognized.
The hyaloid vessels may be large but only very occa- The indications for surgery are threefold: first, to
sionally there is significant flow and leakage from this prevent the complications of glaucoma and hypo-
vessel may cause intralenticular haemorrhage116,129,130,213 tony, second for cosmesis, and third for vision. It is
(Figs. 21–24). known that, if treated as any other axial media opac-
The lens itself may be of a normal size which gives ity in an infant, the visual prognosis may be suffi-
rise to a shallow anterior chamber as the retrolental ciently good108 to warrant the arduous optical cor-
CHILDHOOD CATARACTS 139

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 playing a role in the formation of the retrolental
for unilateral congenital cataract. Early surgery and membrane.127
amblyopia therapy is mandatory and the visual re- Intraocular lenses have been used,93 but except in
sults are probably better in the milder cases. The sur- the mildest cases, the added risks due to the PHPV
gery consists of removal of the lens and membrane itself make optical correction with contact lenses the
with a vitrectomy machine,159,186,199,200,201 but the best approach. Spectacles may be used when the
more extensive membranes require intraocular scis- child is being occluded but many older infants ob-
sors, and some advocate the use of intraocular di- ject strongly to this treatment.
athermy. It is important to avoid cutting the ciliary
processes and to remove all of the membrane. If this IV. The Untreated State
is not possible, the surgeon must make sure that a What happens to untreated congenital cataracts?
ring of membrane is not left behind. Surgical com- The growing cortex alters the shape of central
plications have been described.45 There are no accu- cataracts25 in that they are compacted at a decreasing
rate figures, but it is highly likely that glaucoma, rate with increasing age, with the result that the eye
hemorrhage, and retinal detachment are signifi- remains emmetropic despite changes in many of the
cantly more frequent than in uncomplicated cata- parameters that determine refraction.80 Many cata-
ract surgery; the parents should be counseled ac- racts change so little with time that they can be man-
cordingly. In some cases early surgery may carry a aged conservatively,41,42,50,51,71 and never require treat-
higher risk of secondary glaucoma than conservative ment. Often, in lamellar cataracts, the child is able to
management. High frequency ultrasound examina- go through a normal education, perhaps with a little
tion may help plan the best entry site and has re- extra help, and it is the desire to obtain a drivers li-
vealed evidence of thickened anterior hyaloid face cense that brings about the surgery. Some cataracts

Fig. 23. Severe PHPV with central dense core, largely re-
absorbed lens, and vascular connection between the Fig. 24. Dense PHPV with partially reabsorbed lens and
plaque and the iris. stretched ciliary processes.
140 Surv Ophthalmol 48 (2) March–April 2003 AMAYA ET AL

progress rapidly; for instance, untreated galacto- set cataract gene maps to human chromosome 17q24. Nat
Genet 9:37–40, 1995
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racts, but if medically treated, some of these cataracts and Alports syndrome. Br J Ophthalmol 50:390–403, 1966
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Pediatr Ophthalmol 14:109–11, 1977
Monitoring of galactosemia dietary control by obser- 5. Basti S, Hejtmancik JF, Padma T, et al: Autosomal domi-
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