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Original Article

Epidemiology of congenital eye malformations in 131,760 consecutive births

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Pages 179-186 | Accepted 05 Jun 1992, Published online: 08 Jul 2009

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Reem Amine & Elias I. Traboulsi. (2023) Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts. Journal of Binocular Vision and Ocular Motility 73:4, pages 104-108.
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Jonathan M. Holmes, David A. Leske, James P. Burke & David O. Hodge. (2003) Birth prevalence of visually significant infantile cataract in a defined U.S. population. Ophthalmic Epidemiology 10:2, pages 67-74.
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Stella J. Hornby, Simon J. Ward, Clare E. Gilbert, Lalit Dandona, Allen Foster & R. Barry Jones. (2002) Environmental risk factors in congenital malformations of the eye. Annals of Tropical Paediatrics 22:1, pages 67-77.
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Werner Götz. (1995) Transgenic models for eye malformations. Ophthalmic Genetics 16:3, pages 85-104.
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Aiping Song, Xincen Hou, Jian Zhuo & Tao Yu. (2020) Peripapillary choroidal thickness in eyes with high myopia. Journal of International Medical Research 48:4, pages 030006052091727.
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T. Yee Khong. 2007. Fetal and Neonatal Pathology. Fetal and Neonatal Pathology 825 850 .
Lan Chang, Delphine Blain, Stefano Bertuzzi & Brian P Brooks. (2006) Uveal coloboma: clinical and basic science update. Current Opinion in Ophthalmology 17:5, pages 447-470.
Crossref
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Crossref
K.W. Choy, C.C. Wang, A. Ogura, T.K. Lau, M.S. Rogers, K. Ikeo, T. Gojobori, L.Y. Tang, D.S.C. Lam, T.K.H. Chung & C.P. Pang. (2006) Molecular characterization of the developmental gene in eyes: Through data-mining on integrated transcriptome databases. Clinical Biochemistry 39:3, pages 224-230.
Crossref
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Crossref
Gábor Vogt, Erzsébet Puhó & Andrew E. Czeizel. (2005) A Population-based Case–control Study of Isolated Anophthalmia and Microphthalmia. European Journal of Epidemiology 20:11, pages 939-946.
Crossref
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Crossref
R. Brian Lowry, Ruth Kohut, Barbara Sibbald & Jocelyn Rouleau. (2005) Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System. Canadian Journal of Ophthalmology 40:1, pages 38-44.
Crossref
Paolo Tortori-Donati & Andrea RossiPaolo Tortori-Donati, Andrea Rossi & Roberta Biancheri. 2005. Pediatric Neuroradiology. Pediatric Neuroradiology 1317 1360 .
Imtiaz A. Chaudhry, Yonca O. Arat, Farrukh A. Shamsi & Milton Boniuk. (2004) Congenital Microphthalmos With Orbital Cysts. Ophthalmic Plastic & Reconstructive Surgery 20:6, pages 452-457.
Crossref
M.Ashwin Reddy, Peter J Francis, Vanita Berry, Shomi S Bhattacharya & Anthony T Moore. (2004) Molecular genetic basis of inherited cataract and associated phenotypes. Survey of Ophthalmology 49:3, pages 300-315.
Crossref
G Magnusson, P Jakobsson, U Kugelberg, A Lundvall, E Maly, K Tornqvist, M Abrahamsson, B Andreasson, MP Borres, U Broberger, L Hellström‐Westas, R Kornfält, N Nelson, J Sjöstrand & K Thiringer. (2007) Evaluation of screening procedures for congenital cataracts*. Acta Paediatrica 92:12, pages 1468-1473.
Crossref
Mario Messina, Elisabetta Ferrucci, Giuseppe Buonocore, Renato Scarinci & Alfredo Garzi. (2003) Association of microphthalmia and esophageal atresia: Description of a patient and review of the literature. American Journal of Medical Genetics Part A 119A:2, pages 184-187.
Crossref
Lisa A. Schimmenti, June de la Cruz, Richard Alan Lewis, J.D. Karkera, Glenda S. Manligas, Erich Roessler & Maximilian Muenke. (2002) Novel mutation in sonic hedgehog in non‐syndromic colobomatous microphthalmia. American Journal of Medical Genetics Part A 116A:3, pages 215-221.
Crossref
Libe Gradstein, Nadav Belfair, Edna Ronen, Tova Lifshitz & BenZion Biedner. (2002) Functional visual loss in patients with bilateral ocular coloboma. Journal of American Association for Pediatric Ophthalmology and Strabismus 6:3, pages 195-197.
Crossref
Lawrence F. Handler, Katrinka L. Heher & James A. Katowitz. 2002. Pediatric Oculoplastic Surgery. Pediatric Oculoplastic Surgery 559 583 .
D.M. Lehman, W.E. Sponsel, R.F. Stratton, J. Mensah, J.C. Macdonald, T.L. Johnson-Pais, H. Coon, X.T. Reveles, J.D. Cody & R.J. Leach. (2001) Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. American Journal of Medical Genetics 101:2, pages 114-119.
Crossref
Stella J Hornby, Lalit Dandona, Allen Foster, R Barry Jones & Clare E Gilbert. (2007) Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India. Developmental Medicine & Child Neurology 43:6, pages 392-398.
Crossref
Jean W. Keeling. 2001. Fetal and Neonatal Pathology. Fetal and Neonatal Pathology 739 764 .
Benjamin C Onwochei, John W Simon, J.Bronwyn Bateman, Kimberly C Couture & Envar Mir. (2000) Ocular Colobomata. Survey of Ophthalmology 45:3, pages 175-194.
Crossref
Stella J Hornby, Shajan Adolph, Clare E Gilbert, Lalit Dandona & Allen Foster. (2000) Visual acuity in children with coloboma. Ophthalmology 107:3, pages 511-520.
Crossref
E. Lemyre, N. Lemieux, J.C. D�carie & M. Lambert. (1998) Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. American Journal of Medical Genetics 77:2, pages 162-165.
Crossref
Rosanna Pallotta, Paola Fusilli, Giuseppe Sabatino, Alberto Verrotti & Francesco Chiarelli. (1998) Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family. American Journal of Medical Genetics 76:3, pages 252-254.
Crossref
Eva Bermejo & Mar�a-Luisa Mart�nez-Fr�as. (1998) Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. American Journal of Medical Genetics 75:5, pages 497-504.
Crossref
David Taylor. (1998) Congenital cataract: The history, the nature and the practice. Eye 12:1, pages 9-36.
Crossref
Allen Foster, Clare Gilbert & Jugnoo Rahi. (1997) Epidemiology of cataract in childhood: A global perspective. Journal of Cataract and Refractive Surgery 23:Supplement 1, pages 601-604.
Crossref
Ulla Kugelberg, Charlotta Zetterström & Sinikka Syrén‐Nordqvist. (2009) Ocular axial length in children with unilateral congenital cataract. Acta Ophthalmologica Scandinavica 74:3, pages 220-223.
Crossref
Susan Tucker, Barry Jones & Richard Collin. (1996) Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos. Eye 10:3, pages 310-314.
Crossref
Daniel Sandler, Anthony Mancuso, Troy Becker, Roberto Zori, John Hellrung, Janet Silverstein, Valerie Burton, Ada Hamosh & Charles Williams. (2005) Association of anophthalmia and esophageal atresia. American Journal of Medical Genetics 59:4, pages 484-491.
Crossref
S M Tucker, N Sapp & R Collin. (1995) Orbital expansion of the congenitally anophthalmic socket.. British Journal of Ophthalmology 79:7, pages 667-671.
Crossref
A C Gatrell, J R O Collin, R Downes, B Jones & T C Bailey. (1995) The geographical epidemiology of ocular diseases: Some principles and methods. Eye 9:3, pages 358-364.
Crossref
R Gilbert. (1993) "Clusters" of anophthalmia in Britain.. BMJ 307:6900, pages 340-341.
Crossref
M Warburg. (1993) Classification of microphthalmos and coloboma.. Journal of Medical Genetics 30:8, pages 664-669.
Crossref
. (2008) BIBLIOGRAPHY OF DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY: SELECTED BOOKS AND ARTICLES RECEIVED IN 1992. Developmental Medicine & Child Neurology 35:s67-69, pages 1-129.
Crossref

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