Ophthalmic Paediatrics and Genetics
ISSN: 0167-6784 (Print) (Online) Journal homepage: http://www.tandfonline.com/loi/iopg19
Epidemiology of congenital eye malformations in 131,760 consecutive births C. Stoll, Y. Alembik, B. Dott & M. P. Roth To cite this article: C. Stoll, Y. Alembik, B. Dott & M. P. Roth (1992) Epidemiology of congenital eye malformations in 131,760 consecutive births, Ophthalmic Paediatrics and Genetics, 13:3, 179-186 To link to this article: http://dx.doi.org/10.3109/13816819209046487
Published online: 08 Jul 2009.
Submit your article to this journal
Article views: 27
View related articles
Citing articles: 3 View citing articles
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iopg19 Download by: [RMIT University]
Date: 18 January 2016, At: 04:32
@ Aeolus Press Ophthalmic Paediatrics and Genetics 0167-6784/92/US$3.50
(Accepted 5 June 1992)
Epidemiology of congenital eye malformations in 13 1,760 consecutive births C. STOLL*, Y. ALEMBIK, B. DOTT and M.P. ROTH
Downloaded by [RMIT University] at 04:32 18 January 2016
Insiiiut de Puericuliure, Centre Hospitalo-Universiiaire, Sirasbourg, France ABSTRACT. The epidemiology of eye malformations was studied in the geographical area covered by the authors’ registry of congenital malformations. For each of the 78 new cases studied during the period 1979 to 1988, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital eye malformations was 7.5 per 10,000 with microphthalmia 1.8, anophthalmia 0.3, cataract 2.3 and coloboma 0.7 respectively. Sex ratio was 0.82. Prenatal diagnosis was performed in ten cases and three cases were induced abortions. The more common types of associated malformations in the 42 affected cases (53.8%) with at least one anomaly other than an eye malformation were clubfeet, microcephaly, hydrocephaly and facial dysmorphia. At birth infants with eye malformations and other malformations were smaller, weighed less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with eye malformations were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital eye malformations took more often drugs during pregnancy than mothers of controls. Fathers of children with congenital eye malformations were more often exposed to occupational hazards than fathers of controls. There was a significant association between eye malformation and consanguinity of parents. First degree relatives of probands had more than three times the prevalence of non-eye malformations than controls. These results are of relevance to genetic counseling. Key words: congenital eye malformations; anophthalmia; microphthalmia; congenital cataract; coloboma; consanguinity
INTRODUCTION Congenital anomalies of the eye are less common than other categories of congenital malformations like for example congenital heart disease (prevalence rate=7.6 per 1,000 births’ or internal urinary system malformations (prevalence rate= 3.5 per 1,000 births2). However, * Correspondence and reprint requests to: Claude Stoll, M.D., Institut de Puericulture, 23, rue de la Porte de I’H6pita1, 67091 Strasbourg Cedex, France
congenital malformations of the eye are often highly disabling. Congenital eye malformations have most often been studied in clinical series with biased a ~ c e r t a i n m e n t ~ .Given ~. the difficulties associated with precise clinical diagnoses and the relative rarity of congenital eye malformations, it is not surprising that few studies have been performed on congenital eye malformations. The present study provides rates for specific eye lesions for total births among 131,760 consecutive pregnancies in one small region. Complete ascertainment of infants with
Ophthahic Paediatrics and Genetics - 1992, Vol13, No. 3, pp. 179-186 0Aeolus Press Buren (The Netherlands) I992
179
C . Stoll et al. congenital eye malformations in a defined geographic area provides an opportunity to study the epidemiology and the risk factors of congenital eye malformations.
ces were equal and adapted the t-test was used. Odds ratio values were analysed by the chisquared test. RESULTS
Downloaded by [RMIT University] at 04:32 18 January 2016
MATERIAL AND METHODS The patients described here came from 131,760 consecutive births of known outcome, including 921 stillborn babies registered at our Registry of Congenital Malformations covering the ‘Departement du Bas-Rhin’, in which Strasbourg is situated. Our Registry has been described elsewhere5. Briefly, newborns from 11 maternity hospitals were examined during the period 1 January 1979 to 31 December 1988. There were no home deliveries in the area under study. All newborn babies were registered within the first nine days, as well as all fetuses with a minimum age of 20 weeks. New patients diagnosed between birth and one year were also registered. When a suspected or a confirmed case was notified, all available records were checked by a doctor. For each patient more than 50 factors were studied and follow-up information was obtained through the paediatric surgeon and the physician in charge of the child’s care. For each patient a control was studied. Each control was a normal child of the same sex as the patient born after the patient in the same maternity hospital. For seasonality studies the monthly occurrence of all normal births from 1979 to I988 was chosen as control rate. For sex ratio, controls were the normal newborn population. Statistical analysis was carried out using the Statistical Analysis System procedure software package6. Statistical comparison of patients and controls was carried out using the chi-squared Yates test with correction and the Student’s t-test. When it could not be assumed that varian-
180
During the study period 78 cases out of a total of 13 1,760 consecutive births were detected, representing a prevalence of congenital eye malformations (detectable from birth to one year) of 5.9 per 10,000 births. The prevalence of the eye malformations is shown in Table 1. Seventy-four children (94.9%) were live births, one was stillborn and three (3.8%) were interrupted pregnancies, all three with multiple congenital anomalies. Diagnosis was performed prenatally in ten patients (12.8%), at birth in 32 (41.0%), during the first month and the first year of life in 16 (20.5c?o) and 20 (25.6%) babies respectively. There were 36 (46.1 To) patients with no malformations other than congenital eye malformations (isolated congenital eye malformations) and 42 (53.8%) patients with additional malformations (Table 2). We were able to separate these other malformations into recognized synTABLE 1 . Prevalence of the diverse eye lesions
Cataract Microphthalmia Anophthalmia Coloboma of iris Glaucoma Ectopia lentis Megalocornea Aniridia Chorio-retinal atrophy Blepharophimosis Chorioretinitis Miscellaneous Total
No.
%
Prevalence per 10,000 births
30 24 4 9 4 3 3 4 2 4 4 8 99
30.3 24.2 4.0 9.0 4.0 3.0 3.0 4.0 2.0 4.0 4.0 8.0
2.3 1.8 0.3 0.7
0.3 0.2 0.2 0.3 0.1 0.3 0.3 0.6 7.5
Epidemiology of congenital eye malformations in 131,760 consecutive births TABLE 2. Prevalence of congenital anomalies of eye (CAE) and non-eye malformations
Downloaded by [RMIT University] at 04:32 18 January 2016
CAE anomalies alone CAE with non-eye anomalies Chromosomal abnormalities Non-chromosomal recognized syndromes Multiple malformations Total
No.
%
Prevalence per 10,000 births
Sex ratio (m /fl
36 42 6
46.1 53.8 1.7
2.73 3.18
0.81 0.73 2.0
18 18 78
23.0 23 .O
1.36
dromes (chromosomal and non-chromosomal) and non-recognized syndromes (multiple malformations). After exclusion of chromosomal syndromes, 36 cases had at least one extra eye anomaly. Table 3 shows the distribution of malformations in these cases. The sex ratios are shown in Table 2. More females than males had congenital eye malformations but the sex ratio was not significantly different from controls. There were no differences between parents of subjects with congenital eye malformations and controls, with respect to the distribution of parity, previous stillbirths, parental age (mean maternal and paternal ages were 26.5 and 29.4 years respectively), ethnic origin, residence and education.
0.45 1.36 5.91
0.85 0.77 0.82
congenital eye malformations and associated congenital eye malformations were studied separately, these percentages were 10.2 and 23.0 respectively. Odds ratios (OR) = 4.7 (confidence interval (CI) = 1.28 - 12.96). During pregnancy 8.9% of the women had hydramnios and 10.2% oligoamnios (controls 3.8% @ < 0.05) and 1.3% @< 0.01) respectively). Only one pregnancy was induced. No pregnancy was obtained by insemination. Height, head circumference and weight at birth
The mean birth weight of all children with congenital eye malformations was 3,118 g (controls 3,297 g, p
ISSN: 0167-6784 (Print) (Online) Journal homepage: http://www.tandfonline.com/loi/iopg19
Epidemiology of congenital eye malformations in 131,760 consecutive births C. Stoll, Y. Alembik, B. Dott & M. P. Roth To cite this article: C. Stoll, Y. Alembik, B. Dott & M. P. Roth (1992) Epidemiology of congenital eye malformations in 131,760 consecutive births, Ophthalmic Paediatrics and Genetics, 13:3, 179-186 To link to this article: http://dx.doi.org/10.3109/13816819209046487
Published online: 08 Jul 2009.
Submit your article to this journal
Article views: 27
View related articles
Citing articles: 3 View citing articles
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iopg19 Download by: [RMIT University]
Date: 18 January 2016, At: 04:32
@ Aeolus Press Ophthalmic Paediatrics and Genetics 0167-6784/92/US$3.50
(Accepted 5 June 1992)
Epidemiology of congenital eye malformations in 13 1,760 consecutive births C. STOLL*, Y. ALEMBIK, B. DOTT and M.P. ROTH
Downloaded by [RMIT University] at 04:32 18 January 2016
Insiiiut de Puericuliure, Centre Hospitalo-Universiiaire, Sirasbourg, France ABSTRACT. The epidemiology of eye malformations was studied in the geographical area covered by the authors’ registry of congenital malformations. For each of the 78 new cases studied during the period 1979 to 1988, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital eye malformations was 7.5 per 10,000 with microphthalmia 1.8, anophthalmia 0.3, cataract 2.3 and coloboma 0.7 respectively. Sex ratio was 0.82. Prenatal diagnosis was performed in ten cases and three cases were induced abortions. The more common types of associated malformations in the 42 affected cases (53.8%) with at least one anomaly other than an eye malformation were clubfeet, microcephaly, hydrocephaly and facial dysmorphia. At birth infants with eye malformations and other malformations were smaller, weighed less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with eye malformations were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital eye malformations took more often drugs during pregnancy than mothers of controls. Fathers of children with congenital eye malformations were more often exposed to occupational hazards than fathers of controls. There was a significant association between eye malformation and consanguinity of parents. First degree relatives of probands had more than three times the prevalence of non-eye malformations than controls. These results are of relevance to genetic counseling. Key words: congenital eye malformations; anophthalmia; microphthalmia; congenital cataract; coloboma; consanguinity
INTRODUCTION Congenital anomalies of the eye are less common than other categories of congenital malformations like for example congenital heart disease (prevalence rate=7.6 per 1,000 births’ or internal urinary system malformations (prevalence rate= 3.5 per 1,000 births2). However, * Correspondence and reprint requests to: Claude Stoll, M.D., Institut de Puericulture, 23, rue de la Porte de I’H6pita1, 67091 Strasbourg Cedex, France
congenital malformations of the eye are often highly disabling. Congenital eye malformations have most often been studied in clinical series with biased a ~ c e r t a i n m e n t ~ .Given ~. the difficulties associated with precise clinical diagnoses and the relative rarity of congenital eye malformations, it is not surprising that few studies have been performed on congenital eye malformations. The present study provides rates for specific eye lesions for total births among 131,760 consecutive pregnancies in one small region. Complete ascertainment of infants with
Ophthahic Paediatrics and Genetics - 1992, Vol13, No. 3, pp. 179-186 0Aeolus Press Buren (The Netherlands) I992
179
C . Stoll et al. congenital eye malformations in a defined geographic area provides an opportunity to study the epidemiology and the risk factors of congenital eye malformations.
ces were equal and adapted the t-test was used. Odds ratio values were analysed by the chisquared test. RESULTS
Downloaded by [RMIT University] at 04:32 18 January 2016
MATERIAL AND METHODS The patients described here came from 131,760 consecutive births of known outcome, including 921 stillborn babies registered at our Registry of Congenital Malformations covering the ‘Departement du Bas-Rhin’, in which Strasbourg is situated. Our Registry has been described elsewhere5. Briefly, newborns from 11 maternity hospitals were examined during the period 1 January 1979 to 31 December 1988. There were no home deliveries in the area under study. All newborn babies were registered within the first nine days, as well as all fetuses with a minimum age of 20 weeks. New patients diagnosed between birth and one year were also registered. When a suspected or a confirmed case was notified, all available records were checked by a doctor. For each patient more than 50 factors were studied and follow-up information was obtained through the paediatric surgeon and the physician in charge of the child’s care. For each patient a control was studied. Each control was a normal child of the same sex as the patient born after the patient in the same maternity hospital. For seasonality studies the monthly occurrence of all normal births from 1979 to I988 was chosen as control rate. For sex ratio, controls were the normal newborn population. Statistical analysis was carried out using the Statistical Analysis System procedure software package6. Statistical comparison of patients and controls was carried out using the chi-squared Yates test with correction and the Student’s t-test. When it could not be assumed that varian-
180
During the study period 78 cases out of a total of 13 1,760 consecutive births were detected, representing a prevalence of congenital eye malformations (detectable from birth to one year) of 5.9 per 10,000 births. The prevalence of the eye malformations is shown in Table 1. Seventy-four children (94.9%) were live births, one was stillborn and three (3.8%) were interrupted pregnancies, all three with multiple congenital anomalies. Diagnosis was performed prenatally in ten patients (12.8%), at birth in 32 (41.0%), during the first month and the first year of life in 16 (20.5c?o) and 20 (25.6%) babies respectively. There were 36 (46.1 To) patients with no malformations other than congenital eye malformations (isolated congenital eye malformations) and 42 (53.8%) patients with additional malformations (Table 2). We were able to separate these other malformations into recognized synTABLE 1 . Prevalence of the diverse eye lesions
Cataract Microphthalmia Anophthalmia Coloboma of iris Glaucoma Ectopia lentis Megalocornea Aniridia Chorio-retinal atrophy Blepharophimosis Chorioretinitis Miscellaneous Total
No.
%
Prevalence per 10,000 births
30 24 4 9 4 3 3 4 2 4 4 8 99
30.3 24.2 4.0 9.0 4.0 3.0 3.0 4.0 2.0 4.0 4.0 8.0
2.3 1.8 0.3 0.7
0.3 0.2 0.2 0.3 0.1 0.3 0.3 0.6 7.5
Epidemiology of congenital eye malformations in 131,760 consecutive births TABLE 2. Prevalence of congenital anomalies of eye (CAE) and non-eye malformations
Downloaded by [RMIT University] at 04:32 18 January 2016
CAE anomalies alone CAE with non-eye anomalies Chromosomal abnormalities Non-chromosomal recognized syndromes Multiple malformations Total
No.
%
Prevalence per 10,000 births
Sex ratio (m /fl
36 42 6
46.1 53.8 1.7
2.73 3.18
0.81 0.73 2.0
18 18 78
23.0 23 .O
1.36
dromes (chromosomal and non-chromosomal) and non-recognized syndromes (multiple malformations). After exclusion of chromosomal syndromes, 36 cases had at least one extra eye anomaly. Table 3 shows the distribution of malformations in these cases. The sex ratios are shown in Table 2. More females than males had congenital eye malformations but the sex ratio was not significantly different from controls. There were no differences between parents of subjects with congenital eye malformations and controls, with respect to the distribution of parity, previous stillbirths, parental age (mean maternal and paternal ages were 26.5 and 29.4 years respectively), ethnic origin, residence and education.
0.45 1.36 5.91
0.85 0.77 0.82
congenital eye malformations and associated congenital eye malformations were studied separately, these percentages were 10.2 and 23.0 respectively. Odds ratios (OR) = 4.7 (confidence interval (CI) = 1.28 - 12.96). During pregnancy 8.9% of the women had hydramnios and 10.2% oligoamnios (controls 3.8% @ < 0.05) and 1.3% @< 0.01) respectively). Only one pregnancy was induced. No pregnancy was obtained by insemination. Height, head circumference and weight at birth
The mean birth weight of all children with congenital eye malformations was 3,118 g (controls 3,297 g, p
