J. lnher. Metab. Dis.

13 (1990) 509-516
© SSIEM and KluwerAcademicPublishers.Printed in the Netherlands

Cataract and Metabolic Disease

W. ENDRES and Y. S. SHIN
Universitgtts-Kinderklinik, Lindwurmstrasse 4, D-8000 Miinchen 2, F R G

Summary: In addition to the already recognized metabolic diseases which

have been associated with cataract formation, e.g. galactosaemia, galactokinase
deficiency, Lowe's syndrome and diabetes, several other disorders can also lead
to the development of cataracts. They are sorbitol dehydrogenase deficiency,
uridine diphosphate galactose-4-epimerase deficiency, marginal maternal trans-
ferase and galactokinase deficiency, gatactitot and sorbitol accumulation of
unknown origin, heterozygosity for galactosaemia and galactokinase deficiency
as well as the carrier state for Lowe's syndrome. In this review these metabolic
disorders have been divided into five groups according to the age at the first
appearance of lens clouding and the possible means of treatment have been
discussed.

In more than 90% of congenital cataract the aetiology remains unknown. Most of
these cataracts are inherited as a dominant trait. Only a small number of congenital
cataracts are known to be due to metabolic disorders. Since some of these diseases
have been detected quite recently and, at least in some cases, lens clouding can be
prevented by dietary means, it is worthwhile drawing the attention of paediatricians
and ophthalmologists to the possibility of early diagnosis and treatment.
An additional aim of this review is to differentiate the metabolic disorders leading
to cataract formation into various groups according to the age at onset of tens
clouding. This may also be helpful in the differential diagnosis of inborn errors of
metabolism presenting with cataracts.

DISEASE-RELATED FIRST APPEARANCE OF CATARACT

As shown in Table 1, the disorders have been divided into five groups according to
the age at onset of cataract: at birth, during the further newborn period, in infancy,
in childhood and in adulthood.

At birth
The prenatal development of lens clouding is a universal finding in patients with
Lowe's oculo-cerebro-renal syndrome (McKusick 30900) (Lowe et al., 1952; Abbassi
et al., 1968). We also demonstrated cataractous changes with lenticonus opacification

509
510 Endres and Shin

Table 1 Cataract in metabolic disorders

Time when first visible Disorder
At birth Lowe's syndrome
Zellweger syndrome
Rhizomelic chondrodysplasia punctata
Sorbitol dehydrogenase deficiency

In the newborn
(after 5 days) Galactosaemia (Gal-l-P uridyl transferase deficiency)
UDP galactose-4-epimerase deficiency
Marginal maternal galactokinase deficiency
Hyperglycinuria
Single observation:
Metachromatic leukodystrophy

In the infant
(after 4 weeks) Galactokinase deficiency
Partial galactokinase deficiency
Marginal maternal galactokinase deficiency
Galactitol or sorbitol accumulation of unknown origin
e-Mannosidosis
Sialidosis
Hypoglycaemia
Single observations:
Hypobetalipoproteinaemia and vitamin E deficiency
Mitochondrial myopathy and lactic acidosis
Vitamin D deficiency rickets
Lactose intolerance

In the child Diabetes mellitus

Wilson's disease
Hypoparathyroidism
Pseudohypoparathyroidism
Single observations:
Cerebellar atrophy, mental retardation and myopathy
Menkes' disease
Alport's syndrome

In the adult Heterozygosity for Gal-I-P uridyl transferase deficiency

Heterozygosity for galactokinase deficiency
Carriers for Lowe's syndrome
Lactose absorbers
Riboflavin deficiency
Gyrate atrophy with hyperornithinaemia
Glucose-6-phosphate dehydrogenase deficiency
Cerebrotendinous xanthomatosis
Myotonic dystrophy

J. Inher. Metab. Dis. 13 (1990)

Cataract and Metabolic Disease 511

in a fetus at risk for Lowe's syndrome as early as the 24th week of gestation (Endres
et aL, 1977).
In disorders of peroxisome biogenesis, e.g. in Zellweger syndrome (Heymans, 1984;
McKusick 21410) and rhizomelic chondrodysplasia punctata (Lazarow and Moser,
1989; McKusick 21510), cataracts are a frequent observation at birth.
In 1982 Vaca and colleagues described several predominantly male members of, a
Mexican family with cataracts and reduced sorbitol dehydrogenase (EC 1.1.1.14)
activity (McKusick 18250) in red blood cells. Shin and colleagues (1984) described a
German family where a father and his son had cataracts and reduced sorbitol
dehydrogenase activity in red blood cells. However, the grandfather of the family
described by Vaca and colleagues (1982), who also had reduced sorbitol dehydrogenase
activity in red blood cells, was completely normal without any signs of lens
clouding. A further study concerning the pathogenetic relationship between sorbitol
dehydrogenase deficiency and the development of cataracts is therefore necessary.
Possible additional factors should be considered, such as an increased aldose reductase
(EC 1.1.t.21) activity as observed in diabetic rats (Varma and Kinoshita, 1974), which
can contribute to a sorbitol accumulation in lenses or sorbitol dehydrogenase
isozymes in tissues other than in red blood cells. The determination of sorbitol in
plasma (Shin et al., 1985b) may be an excellent means of proving the cause of cataract
as well as controlling a potential therapy.

Cataract in the newborn

In some patients with galactosaemia due to galactose-l-phosphate uridyl transferase
(EC 2.7.7.12) deficiency (Mason and Turner, 1935; Holton, 1990; McKusick 23040)
lens opacities can be detected within the first week of life (Segal, 1989). In these
patients aldose reductase catalyses the conversion of accumulated galactose to its
polyol, galactitol, which leads to swelling of the lens fibres. If dietary galactose
restriction is initiated early, the cataract can regress fully. The incidence of cataract
in galactosaemic patients detected by clinical symptoms is about 50% (Buist et aI.,
1988). However, 13% of 147 patients found by newborn screening already had
cataracts in the neonatal period (Buist et al., 1988).
Holton and colleagues (1981) and Sardharwalla and colleagues (1988) each reported
a patient with a generalized uridine diphosphate galactose-4-epimerase (EC 5.1.3.2)
deficiency (McKusick 23035) whose clinical symptoms were similar to those usually
found in patients with classical galactosaemia. In one of these patients cataracts were
present on slit lamp examination (Sardharwalla et al., 1988). However, cataracts have
also been observed in some patients with peripheral epimerase deficiency who were
otherwise healthy (Shin et al., 1985a). Cataracts have even been found in heterozygotes
for peripheral epimerase deficiency (Jakobs et al., 1990). In all three genetic
constellations (generalized epimerase deficiency, peripheral epimerase deficiency and
the heterozygous state for peripheral epimerase deficiency) elevated plasma galactitol
levels have been demonstrated (Jakobs et al., 1990). It can therefore be postulated
that galactitol accumulation in the lens could be a main cause of the cataract
development.

J. tnher. Metab. Dis. 13 (1990)

512 Endres and Shin

Harley and colleagues (1974) demonstrated that 75 mothers of children with

cataracts had somewhat reduced galactokinase activities in red blood cells but these
were not compatible with the heterozygous state of galactokinase deficiency. They
made a similar observation in 36 mothers whose galactose-t-phosphate uridyl
transferase activities were reduced but not significantly different from those of controls
and concluded that 'these results are interpreted as strong evidence that marginal
maternal deficiency of either or both enzymes, in the face of substantial lactose intake
during pregnancy, may contribute to the formation of cataracts during developmental
life.' This interpretation, however, has been questioned by Winder and colleagues
(1985) on the basis of observations on a small number of families with established
enzyme deficiencies and/or cataracts. Further investigations concerning the lactose
intake in mothers of such families during pregnancy are also necessary in order to
elucidate this point.
The association of cataract with hyperglycinuria in six members of a Finnish
kindred with autosomal dominantly inherited cataract (Simil~i and K/i/Jr, 1974) may
be an incidental observation. The same may be true for the single observation of
cataract in a newborn infant with metachromatic leukodystrophy (Endres, 1986).
Nevertheless, these findings indicate a complexity in cataract formation.

Cataract in infancy
Galactokinase (EC 2.7.1.6) deficiency (McKusick 23020), first described by Gitzelmann
(1965; 1967), leads to cataract formation during the first months of life and is the
sole clinical manifestation of the disease. In one patient lens opacities have been
observed as early as the age of three weeks (Thalhammer et al., 1968).
Beutler and colleagues (1973) and Beutler and Matsumoto (1978) reported a
statistical correlation of the partial reduction in the galactokinase activity with
cataract development during the first year of life. Similar observations have been
made by Kaloud and colleagues (1975). Marginal maternal galactokinase deficiency
as mentioned previously may lead to lens clouding beyond the newborn period
(Harley et al., t974).
Some infants with cataract and normal galactose metabolizing enzymes in red
blood cells have been found to have elevated plasma concentrations of galactitol
(Jakobs et al., 1988). Jakobs and colleagues (1990) recently reported that an increased
sorbitol concentration was also observed in some cataract patients with a normal
sorbitol dehydrogenase activity in red blood cells. Currently no comprehensible
explanations for this polyol accumulation in plasma have been found and the cause
remains speculative.
In addition cataracts have been observed in disorders of glycoprotein degradation
including ~-mannosidosis ((~ckerman, 1967; Kjellman et al., 1969; McKusick 24850)
and sialidosis (Durand et al., 1977; Beaudet and Thomas, 1989; McKusick 25655).
It has also been well established that hypoglycaemia from different causes during
infancy can result in cataract formation (Merin and Crawford, 1971; Koivisto et al.,
1972).

J. lnher, Metab. Dis, 13 (1990)

Cataract and Metabolic Disease 513

Isolated cases of infantile cataract have been described in metabolic disorders such
as hypobetalipoproteinaemia and vitamin E deficiency (Griffiths et al., 1988),
mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis
after exercise (Sengers et al., 1975), vitamin D deficiency rickets (Hochman and
Mejlszenkier, 1977) and lactose intolerance (Hirashima et al., 1979).

Cataract in childhood
Cataracts developed during childhood (mainly during adolescence) may be due to
diabetes mellitus, Wilson's disease (McKusick 27790), hypoparathyroidism and
pseudohypoparathyroidism. According to Danks (1989) tenticular opacities have been
observed in 15- 20% of all patients with Wilson's disease. Cataracts have been seen
occasionally in patients suffering from cerebellar atrophy, mental retardation and
myopathy (Herva et al., 1987), Menkes' kinky hair disease (Sakano et al., 1982) and
children with Alport's syndrome (Schatz, 1971).

Cataract in adults
Cataracts have been observed among adult subjects who were heterozygous for
galactose-l-phosphate uridyl transferase deficiency (Prchal et al., 1978; Burke et al.,
1988; Brivet et al., 1989) or for galactokinase deficiency (Monteleone et at., 1971;
Prchal et aI., 1978). The cataract formation among the respective heterozygotes,
however, may depend upon the galactose intake. Lenticular opacities have also been
seen in carriers of the gene for Lowe's syndrome (Gardner and Brown, 1976; Hittner
et al., 1982).
Rinaldi and colleagues (1984) observed a prevalence of persistent high lactase
activity in adult Neapolitans with cataracts. The authors interpreted this finding as
an increased susceptibility to cataracts in adults absorbing a higher amount of
galactose from a lactose-containing diet.
Riboflavin deficiency in red blood cells has been demonstrated in eight adult
patients with cataracts (Prchal et al., 1978). Since riboflavin deficiency has also been
associated with the development of cataracts in animals, it can be assumed that it
was directly responsible for the cataract formation in humans.
Finally, rare disorders such as gyrate atrophy with hyperornithinaemia (Valle
and Simell, 1989, McKusick 25887), glucose-6-phosphate dehydrogenase deficiency
(Luzzatto and Mehta, 1989; McKusick 30590), cerebrotendinous xanthomatosis
(Bj6rkhem and Skrede, 1989; McKusick 21370) and myotonic dystrophy (Harper,
1989; McKusick 16090) can be associated with the development of cataract.

CONCLUSIONS
The age-related classification of cataract formation presented here may be helpful in
the differential diagnosis of a certain group of metabolic diseases. The causes of

J. Inher. Metab. Dis. 13 (1990)

514 Endres and Shin

cataract formation are indeed diverse and the time of onset is also variable. We need
further investigations in order to estimate the validity of the correlations reported
between disease and cataract. In particular, this might be true for sorbitol dehydrogen-
ase deficiency, partial galactokinase defiency, heterozygosity for galactose-l-phos-
phate uridyl transferase deficiency or for galactokinase deficiency, marginal maternal
galactokinase deficiency, and galactitol or sorbitol accumulation of unknown origin.
The early and accurate detection of possible causes for the cataract may be helpful
in preventing its formation by appropriate measures. In most diseases no specific
treatment is available. In patients with a defect in gatactose metabolism dietary
galactose restriction is the main objective. An important question lies, however, in
the therapy for pregnant mothers homozygous or heterozygous for one of the
disorders in galactose metabolism. The extremely high levels of galactose-1-phosphate
in red blood cells during the newborn period in galactosaemic patients suggests that
the galactose metabolism is very active during the prenatal as well as the neonatal
period. Galactose toxicity may therefore occur in infants with such mothers even
though they are completely healthy otherwise. Further studies are needed for a
definite regime for treatment.

REFERENCES
Abbassi, V., Lowe, C. U. and Calcagno, P. L. Oculo-eerebro-renal syndrome. Am. J. Dis.
Child. 115 (1968) 145-168
Beaudet, A. L. and Thomas, G. H. Disorders of glycoprotein degradation: mannosidosis,
fucosidosis, sialidosis, and aspartylglycosaminuria. In Scriver, C. R., Beaudet, A. L., Sly, W.
S. and Valle, D. (eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York,
t989, pp. 1603-1621
Beutler, E. and Matsumoto, F. Galactokinase and cataracts. Lancet 1 (1978) 1161
Beutler, E., Matsumoto, F., Kuhl, W., Krill, A., Levy, N, Sparkes, R. and Degnan, M.
Galactokinase deficiency as a cause of cataracts. N. Engl. J. Med. 228 (1973) 1203-1206
Bj6rkhem, I. and Skrede, S. Familial diseases with storage of sterols other than cholesterol:
Cerebrotendinous xanthomatosis and phytosterolemia. In Scriver, C. R., Beaudet, A. L.,
Sly, W. S. and Valle, D. (eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New
York, 1989, pp. 1283-1302
Brivet, M., Migayron, F., Roger, J., Cheron, G. and Lemonnier, A. Lens hexitols and cataract
formation during lactation in a woman heterozygote for galactosaemia. J. Inher. Metab.
Dis. 12, Suppl. 2 (1989) 343-345
Buist, N., Waggoner, D., Donnell, G. and Levy, H. The effects of newborn screening on
prognosis in gatactosemia: results of the international survey. Proceedings of the 26th S S I E M
Symposium (1988) p. 53, ISBN 1-870617-01-0
Burke, J. P., O'Keefe, M., Bowell, R. and Naughton, E. R. Cataracts in children with classical
galactosaemia and in their parents. J. Inher. Metab. Dis. 11, Suppl. 2 (1988) 246-248
Danks, D. M. Disorders of copper transport. In Scriver, C. R., Beaudet, A. L., Sly, W. S. and
Valle, D. (eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1989,
pp. 1411-1431
Durand, P., Gatti, R., Cavalieri, S., Borrone, C., Tondeur, M., Michalski, J.-C. and Strecker,
G. Sialidosis (mucolipidosis I). Helv. Paediatr. Acta 32 (1977) 391-400
Endres, W. Unpublished observation (1986)
Endres, W., Schaub, J., Stefani, F. H., Wirtz, A. and Zahn, V. Cataract in a fetus at risk for
oculo-cerebro-renal syndrome (Lowe). Kiln. Wochenschr. 55 (1977) t41-144

J. Inher, Metab. Dis, 13 (1990)

Cataract and Metabolic Disease 515

Gardner, R. J. M. and Brown, N. Lowe's syndrome: Identification of carriers by lens

examination. J. Med. Genet. 13 (1976) 449-454
Gitzelmann, R. Deficiency of erythrocyte galactokinase in a patient with galactose diabetes.
Lancet 2 (1965) 670-671
Gitzelmann, R. Hereditary galactokinase deficiency, a newly recognized cause of juvenile
cataracts. Pediatr. Res. 1 (1967) 14-23
Griffiths, R. D., Taylor, C. J., Isherwood, D. M. and Jackson, M. J. Fat malabsorption, vitamin
E deficiency, scoliosis and cataracts. J. Inher. Metab. Dis. 11, Suppl. 2 (1988) 153-154
Harley, J. D., Irvine, S., Mutton, P. and Gupta, J. D. Maternal enzymes of galactose metabolism
and the 'inexplicable' infantile cataract. Lancet 2 (1974) 259-261
Harper, P. S. The muscular dystrophies. In Scriver, C. R., Beaudet, A. L, Sly, W. S. and Valle,
D. (eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1989,
pp. 2869-2902
Herva, R., yon Wendt, L., von Wendt, G., Saukkonen, A.-L, Leisti, J. and Dubowitz, J. A
syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.
Neuropediatrics 18 (1987) 164-169
Heymans, H. S. A. Cerebro-hepato-renal (Zellweger) syndrome. Clinical and biochemical
consequences of peroxisomal dysfnnction. Thesis, University of Amsterdam, 1984
Hirashima, Y., Shinozuka, S., Ieiri, T., Matsuda, I., Ono, Y. and Murata, T. Lactose intolerance
associated with cataracts. Eur. J. Pediatr. 130 (1979) 41-45
Hittner, H. M., Carroll, A. J. and Prchal, J. T. Linkage studies in carriers of Lowe oculo-
cerebro-renal syndrome. Am. J. Hum. Genet. 34 (1982) 966-971
Hochman, H. I. and Mejlszenkier, J. D. Cataracts and pseudotumor cerebri in an infant with
vitamin D-deficiency rickets. J. Pediatr. 90 (1977) 252-254
Holton, J. B. Galactose disorders: an overview. J. Inher. Metab. Dis. 13 (1990)
476-486
Holton, J. B., Gillett, M. G., MacFaul, R. and Young, R. Galactosaemia: a new variant due
to uridine diphosphate galactose-4-epimerase deficiency. Arch. Dis. Child. 56 (1981)
885-887
Jakobs, C., Douwes, A. C., Kok, R. M., De Jong, A., Endres, W. and Shin, Y. S. Elevated
plasma galactitol levels in patients with congenital cataracts without enzyme defects. Eur.
J. Pediatr. 147 (t988) 446
Jakobs, C., Douwes, A. C., Brockstedt, M., Stellaard, F., Endres, W. and Shin, Y. S. Plasma
polyol levels in patients with cataract. J. Inher. Metab. Dis. 13 (1990) 517-522
Kaloud, H., Sitzmann, F. C., Schenker, H. and Prestele, H. Enzymaktivit~itswerte des
Galaktosestoffwechsels bei der sogenannten Cataracta congenita. Dtsch. Med. Wochenschr.
100 (1975) 873-876
Kjellman, B., Gamstrop, I., Brun, A., Ockerman, P.-A. and Palmgren, B. Mannosidosis: a
clinical and histopathologic study. J. Pediatr. 75 (1969) 366-373
Koivisto, M., Blanco-Sequeiros, M. and Krause, U. Neonatal symptomatic and asymptomatic
hypoglycaemia: a follow-up study of 151 children. Dev. Med. Child. Neurol. 14 (1972)
603-614
Lazarow, P. B. and Moser, H. W. Disorders of peroxisome biogenesis. In Scriver, C. R.,
Beaudet, A. L, Sly, W. S. and Valle, D. (eds.), The Metabolic Basis of Inherited Disease,
McGraw-Hill, New York, 1989, pp. 1479-1509
Lowe, C. U., Terrey, M. and MacLachlan, E. A. Organic aciduria, decreased renal ammonia
production, hydrophthalmos and mental retardation. Am. J. Dis. Child. 83 (1952) 164-184
Luzzatto, L. and Mehta, A. Glucose-6-phosphate dehydrogenase deficiency. In Scriver, C. R.,
Beaudet, A. L., Sly, W. S. and Valle, D. (eds.), The Metabolic Basis of Inherited Disease,
McGraw-Hill, New York, 1989, pp. 2237-2265
Mason, H. H. and Turner, M. E. Chronic galactosemia. Am. J. Dis. Child. 50 (1935) 359-374
Merin, S. and Crawford, J. S. Hypoglycemia and infantile cataract. Arch. Ophthalmol. 86 (1971)
495-498
Monteleone, J. A., Beutler, E., Monteleone, P. L., Utz, C. L. and Casey, E. C. Cataracts,

J. lnher. Metab. Dis. 13 (1990)

516 Endres and Shin

galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Am. J. Med.

50 (1971) 403-407
Ockerman, P.-A. A generalized storage disease resembling Hurler's syndrome. Lancet 2 (1967)
239-241
Prchal, J. T., Conrad, M. E. and Skalka, H. W. Association of presenile cataracts with
heterozygosity for galactosaemic states and with riboflavin deficiency. Lancet 1 (1978)
12-13
Rinaldi, E., Costagliola, C., Albini, L., de Rosa, G., Auricchio, G., de Vizia, B. and Auricchio,
S. High frequency of lactose absorbers among adults with idiopathic senile and presenile
cataract in a population with a high prevalence of primary adult lactose malabsorption.
Lancet 1 (1984) 355-357
Sakano, T., Okuda, N., Yoshimitsu, K., Hatano, S., Nishi, Y., Tanaka, T. and Usui, T. A case
of Menkes' syndrome with cataracts. Eur. J. Pediatr. 138 (1982) 357-358
Sardharwalla, I. B., Wraith, J. E., Bridge, C., Fowler, B. and Roberts, S. A. A patient with
severe type of epimerase deficiency gatactosaemia. J. Inher. Metab. Dis. 11, Suppl. 2 (1988)
249-251
Schatz, H. Alport's syndrome in a negro kindred. Am. J. Ophthalmol. 71 (1971) 1236-1240
Segal, S. Disorders of galactose metabolism. In Scriver, C. R., Beaudet, A. L., Sly, W. S. and
Valle, D. (eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1989,
pp. 453-480
Sengers, R. C. A., ter Haar, B. G. A., Trijbels, J. M. F., Willems, J. L., Daniels, O. and
Stadhouders, A. M. Congenital cataract and mitochondrial myopathy of skeletal and heart
muscle associated with lactic acidosis after exercise. J. Pediatr. 86 (1975) 873-880
Shin, Y. S., Rieth, M., Endres, W. and Haas, P. Sorbitol dehydrogenase deficiency in a thmily
with congenital cataracts. J. Inher. Metab. Dis. 7, Suppl. 2 (1984) 151-152
Shin, Y. S., Endres, W., Rieth, M., Kruse, K. and Jakobs, C. Metabolite patterns and clinical
expressions of uridine diphosphogalactose epimerase deficiency. Pediatr. Res. 19 (1985a)
1075
Shin, Y. S., Endres, W., Schmid, K.-M., V61cker, H. E. and Jakobs, C. Elevated plasma sorbitol
levels in cataract patients with sorbitol dehydrogenase deficiency. Pediatr. Res. 19 (1985b)
1082
Similii, S. and K/i/Jr, M.-L. Hyperglycinuria in a family with autosomal dominantly inherited
cataract. CIin. Genet. 6 (1974) t38-141
Thalhammer, O., Gitzelmann, R. and Pantlitschko, M. Hypergalactosemia and galactosuria
due to galactokinase deficiency in a newborn. Pediatrics 42 (1968) 441-445
Vaca, G., Ibarra, B., Bracamontes, M., Garcia-Cruz, D., S~mchez-Corona, J., Medina, C.,
Wunsch, C., Gonz/dez-Quiroga, G. and Cantfi, J. M. Red blood cell sorbitol dehydrogenase
deficiency in a family with cataracts. Hum. Genet. 61 (1982) 338-341
Valle, D. and Simell, O. The hyperornithinemias. In Scriver, C. R., Beaudet, A. L., Sly, W. S.
and Valle, D. (eds.), The Metabolic Basis of Inherited Disease, McGraw-Hill, New York,
1989, pp. 599-627
Varma, S. D. and Kinoshita, J. H. Sorbitol pathway in diabetic and galactosemic rat lens.
Biochim. Biophys. Acta 338 (1974) 632-640
Winder, A. F., Fielder, A. R., Mount, J. N. and Menzies, J. S. Direct and maternal aspects of
the risk of cataract with partial disorders of galactose metabolism. Clin. Genet. 28 (1985)
199-206.

J. Inher. Metab. Dis~ 13 (1990)