Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System

Canadian Journal of Ophthalmology

Volumn 40, Issue 1, 2005, Pages 38-44

  Lowry, R Brian ^a,b,e   Kohut, Ruth ^c,d   Sibbald, Barbara ^a,b   Rouleau, Jocelyn ^c  

^a Alberta Congenital Anomalies S S   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c HEALTH CANADA   (Canada)

^d CALGARY HEALTH REGION   (Canada)

^e ALBERTA CHILDREN'S HOSPITAL   (Canada)

Author keywords

Anophthalmia; Epidemiology; Microphthalmia; Prevalence; Surveillance

Indexed keywords

ALBERTA CONGENITAL ANOMALIES SURVEILLANCE SYSTEM; ANOPHTHALMIA; AUTOPSY; CANADIAN CONGENITAL ANOMALIES SURVEILLANCE SYSTEM; CHROMOSOME ANALYSIS; CLUSTER ANALYSIS; ENVIRONMENTAL FACTOR; EYE MALFORMATION; HEALTH CARE SYSTEM; HEALTH SURVEY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MEDICAL RECORD; MICROPHTHALMIA; NEWBORN; PHENOTYPE; POPULATION RESEARCH; PREGNANCY TERMINATION; REGISTER; REVIEW; TERATOGENESIS;

EID: 16344369421     PISSN: 00084182     EISSN: 17153360     Source Type: Journal    
DOI: 10.1016/S0008-4182(05)80115-2     Document Type: Article

References (21)

1. International Clearinghouse for Birth Defects Monitoring Systems. Annual report 2003. Rome: International Centre on Birth Defects; 2003. p. 39.
2. Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002;39:16-22.
3. Bermejo E, Martínez-Frías ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998;75:497-504.
4. Clementi M, Turolla L, Mammi I, Tenconi R. Clinical anophthalmia: an epidemiological study in northeast Italy based on 368,256 consecutive births. Teratology 1992;46:551-3.
5. Dolk H, Busby A, Armstrong BG, Walls PH. Geographical variation in anophthalmia and microphthalmia in England, 1988-94. BMJ 1998;317:905-10.
6. Kallén B, Robert E, Harris J. The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol 1996;25:1009-16.
7. Spagnolo A, Bianchi F, Calabro A, Calzolari E, Clementi M, Mastroiacovo P, et al. Anophthalmia and benomyl in Italy: a multicenter study based on 940,615 newborns. Reprod Toxicol 1994;8:397-403.
8. Stoll C, Alembik Y, Dott B, Roth MP. Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet 1992;13:179-86.
9. Campbell H, Holmes E, MacDonald S, Morrison D, Jones I. A capture-recapture model to estimate prevalence of children born in Scotland with developmental eye defects. J Cancer Epidemiol Prev 2002;7:21-8.
10. Bianchi F, Calabro A, Calzolari E, Mastroiacovo PP, Petrelli G, Spagnolo A, et al. Clusters of anophthalmia: no link with benomyl in Italy [letter]. BMJ 1994;308:205.
11. Kristensen P, Irgens LM. Clusters of anophthalmia: no link with benomyl in Norway [letter]. BMJ 1994;308:205-6.
12. Castilla EE. Clusters of anophthalmia: no further clues from global investigation [letter]. BMJ 1994;308:206.
13. Warburg M. Classification of microphthalmos and coloboma. J Med Genet 1993;30:664-9.
14. Warburg M. An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalmic Paediatr Genet 1991;12:57-63.
15. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994;7:463-71; erratum 8:203.
16. Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 1998;35:806-12.
17. Percin EF, Ploder LA, Yu JJ, Arid K, Horsford DJ, Rutherford A, et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 2000;25:397-401.
18. Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, et al. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 1999;22:196-8.
19. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, et al. Mutations in SOX2 cause anophthalmia. Nat Genet 2003;33(4):461-3.
20. Cuzick J. Commentary: clustering of anophthalmia and microphthalmia is not supported by the data. BMJ 1998;317:910.
21. Mariman ECM. Clustering of anophthalmia and microphthalmia [editorial]. BMJ 1998;317:895-6.