Original Papers • Travaux originaux • Originalarbeiten

Ophthalmologica. Basel 184: 61-71 (1982)

Genetics of Cataract

Jules François
Ophthalmological Clinic. University of Ghent, Belgium

Key Words. Congenital cataract • Metabolic disorders • Inheritance mode

Abstract. Isolated cases of cataract are often hereditary. This is the case in at least 25% of
congenital cataracts and in a great number ofacquired cataracts. They arc mostly autosomal
dominant. The cataracts associated with metabolic disorders or genetic dysplasias of course
display the same inheritance mode as the systemic disease.

Introduction metabolic disorder or a genetic systemic dys­

Congenital or acquired cataracts may be
either isolated or associated with metabolic
disorders or genetic dysplasias. In the first
case the inheritance is mostly autosomal
dominant, while in the second case it is the
same as that of the systemic disease.
Isolated Cataracts
Congenital cataracts
Congenital cataracts are hereditary in
25.5% of the cases according to Merin and
Crawford [1971, 386 cases] and even in 51%
of the cases according to Keith [1974, 55
cases]. In personal statistics of 300 cases of
plasia in 6%. In 59% of the cases the etiology
was unknown.
Congenital cataracts show heterogeneity
[Warburg, 1977],
Indeed (1) Renwick and Lawler [1963]
found a linkage between the locus for con­
genital zonular pulverulent cataract and the
Duffy blood group locus. The final probabil­
ity of linkage, after combination with an a
priori probability against linkage, was as­
sessed as 0.977. But the large cataract pedi­
gree reported by Mohr [1954] showed a prob­
ability of linkage of only 0.02. Hence, a dif­
ferent type of dominantly inherited cataract
is probably involved.
(2) The absence or presence of associated
features also indicates heterogeneity, as well
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large lens opacities, we found a hereditary as differences in the type of lens changes in
factor in 25%, embryopathy in 10%, and a isolated cataracts.
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62
• o c •
• •
I membranous cataract [Gruber. 1945.6 cases
vi • ©
Fig. 1. Total nuclear cataract. Autosomal dominant
inheritance [François, personal observation].
(3) Phenotypically, essentially identical
lens changes may show different modes of
inheritance, although cataracts of different
morphologic types may be observed in the
same family [Lutman and Neel. 1945;
Marner. 1949],
In my classification [François, 1963], cat­
aracts involving the capsule are distin­
guished from those affecting only the lens
fibers. The latter group is subdivided into
cataracts developing in a normal lens rudi­
ment and those developing in an abnormal
rudiment.
I Capsular or capsulo-lenlicular cataracts: (I) ante­
rior polar. (2) anterior capsular. (3) posterior polar.
(4) posterior capsular
II Cataracts developing in a normal lens rudiment: (I)
stellate, (2) dilacerated. (3) floriform, (4) embryonic
anterior axial, (5) punctate. (6) central pulverulent.
(7) nuclear. (8) zonular
III Cataractsdevelopinginan abnormal lens rudiment:
(1) fusiform. (2) disk-shaped or ring-shaped. (3) crys­
talline coralliform or aculeiform
IV Total, membranous or fibrous cataracts
V Special forms
Autosomal Dominant Inheritance
Anterior polar cataract [Harman. 1909 a,
9 cases in 5 generations with microphthal­
mos, nystagmus and strabismus; Sander.
François
1931. father and 3 daughters with myopia
and mental and physical retardation]; crys­
talline aculeiform or frosted cataract [Rom-
er. 1926 .Gifford and Pit ntenney. 1937]; crys­
talline coralliform cataract [Nellleship.
1909; Riad. 1938; Jordan. 1955]: floriform
cataract [Doggart, 1957, 4 generations;
Tosch. 1958. 5 generations; Keerl. 1968];
in 4 generations]; nuclear or coppock cata­
ract, discoid cataract and pulverulent zonu­
lar cataract [Nellleship and Ogilvie, 1906,18
cases in 4 generations; Harman, 1909b, 19
cases in 4 generations; Smith, 1910,26 cases
in 4 generations; Girardet, 1943,15 cases in 4
generations; Lee and Benedict, 1950, 63
cases in 6 generations, etc.]; nuclear diffuse
non progressive cataract [Vogt. 1930; Weber,
1940; Hammerstein and Scholz, 1974, 40
affected members in 6 generations]; total
nuclear cataract [Brown, 1924; Parrow,
1955 \Sborgia et al., 1970; Huntzingerel al.,
1975; François, personal observation of
more than 15 families (fig. 1)]; stellate or co­
ralliform cataract involving the sutures [Jor­
dan. 1955, 24 affected in 3 generations; An-
tillon andGarzon, 1975,6 cases in I family];
posterior polar cataract [Tulloh, 1955, 15
affected in 5 generations; Valk and Bink-
horst, 1956, 2 generations with choroider-
emia and myopia; Nellleship, 1909, 1912,
posterior scattered cortical opacities in
childhood and progressing to total cataract;
François, personal observation (fig. 2)]; total
congenital cataract [Meissner, 1933,22 cases
in 6 generations in 1 family and 13 in 5 gen­
erations in a second (fig.3): Jahns, 1938, 3
generations]. All these cataracts show auto­
somal dominant heredity.
Zonular, perinuclear or lamellar cata­
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racts also display an autosomal dominant
inheritance: Harman [1909c, with malfor-
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Genetics of Cataract 63

17S0
I II III IV V VI VII

Fig. 2. Congenital posterior polar cataract and pro- mal dominant inheritance [François, personal observa-
gressivc posterior cortical cataract oflale onset. Autoso- tion].

mation of the fingers], Cridland [1918], Hil­

bert [1912], Jankiewicz and Freeberg [1956],
V-S>
Keizer [1952], Knapp [1926], Marner [1949,
132 cases in 8 generations, mainly affected
by zonular cataract, but some by nuclear,
anterior, polar or stellate cataract (fig.4)],
and François [personal observation].

Autosomal Recessive Inheritance

Autosomal recessive inheritance of con­
genital or juvenile cataract is rare. Saebo
[1949] studied 17 families. In 8. two or more
sibs were affected. In 9 families, the parents
were related, being first cousins in 5 (fig. 5).
Two of these 17 families were, however, not
affected by isolated cataracts: in one family
the proband had also retinitis pigmentosa of
Fig. 3. Congenital total cataract. Autosomal domi­
nant inheritance [Meissner, 1933).
mentosa and was deaf-mute (Usher’s syn­
drome).
Other examples of autosomal recessive
inheritance have been reported by Wagner
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which cataract is a known complication. In [1940], Bane [1944], Rados [1947], Gianfer-
another family the proband had retinitis pig- rari et al. [1954], Klein [1956], Joseph [1957],
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64 François

Catoract

Fig. 4. Zonular cataract. Autosomal dominant inheritance [Marner, 1949].

François [1961], Plancha and Votan-Bona

m o w [1976].

Sex- Linked Recessive inheritance

Sex-linked inheritance is exceptional ii
congenital cataract. Walsh and Wegma>
[1937] described a possible X-linked cata
racl. The 7 alTected males in the family ha
nuclear cataracts with microcornea, nystag
mus and severe visual impairment; 6 hete
rozygous females had posterior suture cata
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Fig. 5. Congenital total cataract. Autosomal reces­

sive inheritance with consanguinity of the parents racts and other small lens opacities with onl
[Saebo. 1949], slight reduction in vision. Fraccaro et a
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Genetics of Cataract 65

| M A L E W ITH C A T A R A C T

0 F E M A L E W IT H Y S U T U R A L C A T A R A C T

f) F E M A L E W ITH M O R E A D V A N C E D C A T A R A C T L E F T E Y E
✓ E X A M IN E D

/ PRO PO SITU S

®
Qjj N FEM A LES OR MALES

Fig. 6. X-linked recessive inheritance of sutural cataract [Krill ct al.. 1969].

[1967] found the same type of expression in 9
affected males (with nystagmus) and in 6
female carriers. Linkage studies indicated
that the XG locus and the cataract locus may
be within measurable distance.
Waardenburg et al. [1961] observed a
family with clear X-linked recessive inheri­
tance (congenital cataract with microcornea
or slight microphthalmos).
Krill et al. [1969] observed a family of
three generations (fig. 6). They found 8 af­
fected males with almost total cataract and 8
female carriers with posterior sutural cata­
ract surrounded by dot-like opacities.
Zonular congenital cataracts may also
sometimes be sex-linked [Falls, 1952],
Witkop-Oostenrijk [1956] described a
family in which X-linked dominance (possi­
bly with lethality in the affected hemizygous
males) might be the genetic mechanism of
the congenital cataract.
The pedigrees of Stieren [1907] and Hal-
bertsma (1934), which have been cited as
fected males also had congenital hydroceph­
alus. All affected males were born blind and
died in convulsions. Thus, they may have
suffered from a complex syndrome of which
cataract was only one feature. Furthermore,
two unaffected males had daughters who
gave birth to affected sons. In Halbertsma’s
family, beside 10 affected males, 3 females
had congenital cataract and 1 had senile cat­
aract.
.Juvenile, Presenile and Senile
Cataracts
The most frequent juvenile cataract is the
coronary or cerulean cataract, which begins
at adolescence. It may be transmitted as an
autosomal dominant trait [Halbertsma,
1928; Vogt. 1930; Wolfe and Wolfe. 1943],
On the other hand, true juvenile cataracts
are not rare and there are many pedigrees
demonstrating the autosomal dominant in­
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examples of X-linked cataract, are not ac­ heritance of some of these cataracts [Rowan
ceptable. In Stieren's pedigree 7 of 17 af­ and Wilson, 1921; Veil and Favory, 1930;
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66
Fig. 7. Juvenile cataract. Autosomal dominant in­
heritance [Francois. personal observation].
Arjona. 1935; François, 1961 (fig.7); Ciucci,
1967, 5 generations; personal observation
(fig. 8)].
What about senile cataracts'! It should be
kept in mind that all persons over 50 years of
age generally show some lens opacities and
that it is therefore difficult to prove inheri­
tance. Nevertheless, detailed observations in
families with cataract and the examination
of numerous pairs of twins convinced Vogt
et al. [1939] that senile cataract is mostly due
to a hereditary factor, and that the type of
cataract which a person develops is also
strictly hereditary. In fact, whether it is a
nuclear or a cortical cataract, the type is
often accurately transmitted. As Nordmann
[1954] noticed, this even applies to details, so
that in a cuneiform cataract or total sclerosis
Fig. 8. Juvenile cataract. Autosomal dominant inheritance [Francois, personal observation].
François
with subcapsular cataract, the clear fissures
will have exactly the same form in successive
generations. It seems that even the evolu­
tionary tendency is transmitted, the cataract
remaining stationary in some persons and
progressing more or less rapidly in others.
An important argument in favor of the
hereditary character of senile cataract is the
concordance in monozygotic twins [Vogt,
1930: Waardenburg, 1932: Oguchi, 1937].
Moreover, there are many pedigrees
which demonstrate the autosomal dominant
inheritance of presenile or senile cataract.
Hornback and De Garis. [1933, 4 genera­
tions with 33 affected members out of 138];
Vinsonhaler and Cosgrove [1936, 6 genera­
tions with 22 affected members out of 59];
Johnstone [1947, 5 generations with 40 af­
fected members out of 118]; Orlowski [1966,
6 families of 2 or 3 generations]; François
[personal observations], etc. reported some
examples.
One of the most important investigations
on the inheritance of cataract is that of Net-
tleship [1905], who collected 122 pedigrees
including 375 cases of presenile or senile
cataract. In 35 families 1 sibship only was
affected, in 47 families there were 2 affected
generations, in 31 families 3 affected genera­
tions, in 5 families 4 affected generations and
in 4 families 5 affected generations. 130.194.20.173 - 11/7/2017 3:58:11 PM
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Genetics of Cataract 67

Associated Congenital or Acquired al.. 1978]. These authors admitted either an

Cataracts incorrect diagnosis or a hypothetical homo-
zygoty. Nevertheless, these cases can now be
Many congenital or acquired cataracts explained by Mary Lyon’s theory (inactiva­
constitute a feature of metabolic disorders or tion of one X-chromosome).
genetic dysplasias. They show of course the Some authors found that the heterozy­
same heredity as the causal disease. gotes or female carriers of the gene presented
The metabolic disorders which are asso­ with numerous diffuse punctate or snow­
ciated with congenital or neonatal cataract flake-like opacities throughout the lens and
are: (1) Lowe’s disease: (2) galactosemia, and particularly in the cortex with or without
(3) galactokinase deficiency. While galacto­ anterior or mostly posterior polar opacities
semia and galactokinase deficiency are. as [ Terslev, 1960 : Richards et al., 1965 : Holmes
most metabolic disorders, autosomal reces­ et al., 1968: Tongue, 1972. etc.]. It has, nev­
sive, Lowe’s oculocerebrorenal syndrome is ertheless, to be noted that other authors did
sex-linked recessive. not find lens opacities in the heterozygote
Lowe’s syndrome is characterized by: (1) women [Ardouin et al., 1971 ; Grubbauerand
renal tubulopathy with vitamin-resistant Petek. 1974],
renal rickets; (2) psychomotor retardation, Cataracts are seen in many genetic dys­
and (3) congenital cataract1 and, in 50% of plasias. They may be either congenital or
the cases, congenital glaucoma. There is acquired. They may be observed in recessive
concordance in monozygotic twins [ Witz- as well as in dominant disorders.
leben et al., 1968], Nearly all the affected As examples of autosomal recessive dis­
children are males, so that a sex-linked re­ orders with congenital cataracts we can men­
cessive inheritance has to be accepted [Slreiff tion Conradi’s syndrome (congenital stip­
et al., 1958; François and Haussons, 1963; pled epiphyses, chondrodystrophia calcifi-
Wilson et al., 1963: Bach et al.. 1966; Haut cans congenita), Crome’s syndrome (with
and Joann ides, 1966; Pallisgaard and epileptic fits, mental retardation, small stat­
Goldschmidt, 1971; Holmes and Tucker. ure). Sjogren’s syndrome (with oligophre­
1972], Pallisgaard and Goldschmidt [1971] nia), Marinesco-Sjögren's syndrome (with
found in a family of 4 generations 5 proven cerebellar ataxia and mental retardation),
cases and 3 probable cases in males. There congenital ichtyosis [Jancke, 1950. 3 sisters;
are, nevertheless, at least 11 affected female Pinkerton, 1958. 2 brothers], etc.
children [Scholten, 1960; Dent and Smellie, As examples of autosomal dominant dis­
1961 ; Adams et al.. 1962 ; S voir et al., 1967 : orders with congenital cataracts we can men­
Midler et al.. 1967 ; Sa get et al., 1970 ; Harris tion François' dyscephalic syndrome (bird­
et al., 1970; Tongue, 1972; Lythgoe and like face, dwarfism, hypotrichosis and skin
Ramsey. 1973; Cyvin et al.. 1972: Betend et atrophy, microphthalmia and congenital
cataract), Marshall’s syndrome (ectodermal
dysplasia with ocular anomalies and deaf­
The congenital cataract is an essential feature: with­
ness), congenital hemolytic icterus (with he­
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out cataract the diagnosis of Lowe’s disease is very molytic anemia and constitution’s anoma­
doubtful. lies), etc.
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68
As examples o f autosomal recessive dis­
orders with juvenile or presen He cataracts we
can mention some metabolic diseases such
as cerebral cholesterinosis (or cerebrotendi-
nous xanthomatosis), Refsum’s syndrome
(with retinitis pigmentosa, chronic polyneu­
ritis and cerebellar signs), phenylketonuria
or diabetes mellitus, and some genetic dys­
plasias, such as Rothmund’s syndrome (with
poikiloderma atrophicans), Werner’s syn­
drome (with scleroderma-like skin changes)
or Wcill-Marchesani syndrome (spheropha-
kia-brachymorphia syndrome).
As examples o f autosomal dominant dis­
orders with juvenile or presenile cataracts we
can mention Steinert’s myotonic dystrophy.
Flynn-Aird syndrome (neuro-ectodermal
syndrome with deafness, ataxia, epilepsy,
skin atrophy, dental anomalies, cystic bone
changes), Alport’s syndrome (nephropathy
and deafness), etc.
There exists also one example of an inter­
mediate X-linked dysplasia with congenital
cataract, that is the Nance syndrome, which
is characterized by congenital cataracts, mi­
crocorneas, dental anomalies, anteverted
pinnae and shortened metacarpals. In the
family reported by Nance [1974] 7 males
were affected, while 9 female carriers had
posterior sutural lens opacities and cone-
shaped teeth. McKusick and Mussels [1971]
and Gorlin [1971] observed similar cases.
Résumé
Les cas de cataracte pure sont souvent héréditaires.
C’est le cas dans au moins 25% des cataractes congéni­
tales et dans un grand nombre de cataractes acquises.
Elles ont le plus souvent une hérédité autosomale domi­
nante. Les cataractes associées à des troubles métaboli­
ques ou à des dysplasies génétiques ont évidemment le
même mode d’hérédité que la maladie générale.
François
Zusammenfassung
Isolierte Fälle von Katarakt sind oft erblich. Dies ist
in mindestens 25% der angeborenen Katarakte sowie
bei einer grossen Zahl erworbener Katarakte der Fall.
Der Vererbungsmodus ist meist autosomal dominant.
Bei mit Stoffwechselstörungen oder genetischen Dys­
plasien einhergehenden Katarakten besteht selbstver­
ständlich derselbe Erbgang wie bei den Systemkrank­
heiten.
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Received: July 14. 1981
Accepted: July 14, 1981
Prof. Dr. J. François.
Clinique ophtalmologique de l'Université.
135 Pintelaan. B-9000 Ghent (Belgium)
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