Anophthalmos, microphthalmos, and coloboma in the United Kingdom: Clinical features, results of investigations, and early management

Ophthalmology

Volumn 119, Issue 2, 2012, Pages 362-368

  Shah, Shaheen P ^a,b   Taylor, Amy E ^a   Sowden, Jane C ^b,c   Ragge, Nicky ^d,e   Russell Eggitt, Isabelle ^c   Rahi, Jugnoo S ^b,c   Gilbert, Clare E ^a  

^a LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d PRINCESS ANNE HOSPITAL   (United Kingdom)

^e OXFORD BROOKES UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANOPHTHALMIA; ARTICLE; CHILD; CLINICAL FEATURE; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; EYE MALFORMATION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSERVATIONAL STUDY; PHENOTYPE; PRIORITY JOURNAL; PROSTHESIS; REHABILITATION CARE; SPECTACLES; ULTRASOUND; UNITED KINGDOM; VISUAL ACUITY; VISUAL IMPAIRMENT;

ABNORMALITIES, MULTIPLE; ANOPHTHALMOS; CHILD, PRESCHOOL; COLOBOMA; CROSS-SECTIONAL STUDIES; ETHNIC GROUPS; FEMALE; GREAT BRITAIN; HUMANS; INFANT; MALE; MICROPHTHALMOS; PHENOTYPE; VISUAL ACUITY;

EID: 84856551543     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2011.07.039     Document Type: Article

References (32)

1. C. Gilbert, A. Foster Childhood blindness in the context of VISION 2020the right to sight Bull World Health Organ 79 2001 227 232 (Pubitemid 32246481)
2. E. Bermejo, M.L. Martinez-Frias Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain Am J Med Genet 75 1998 497 504 (Pubitemid 28078521)
3. I. Mann Developmental Abnormalities of the Eye 2nd ed 1957 Lippincott Philadelphia, PA 60 98
4. Y. Porges, R. Gershoni-Baruch, R. Leibu Hereditary microphthalmia with colobomatous cyst Am J Ophthalmol 114 1992 30 34
5. M. Warburg An update on microphthalmos and coloboma: a brief survey of genetic disorders with microphthalmos and coloboma Ophthalmic Paediatr Genet 12 1991 57 63
6. J. Zlotogora, C. Legum, J. Raz Autosomal recessive colobomatous microphthalmia Am J Med Genet 49 1994 261 262 (Pubitemid 24041997)
7. P.A. Boyd, B. Armstrong, H. Dolk Congenital anomaly surveillance in Englandascertainment deficiencies in the national system (report online) BMJ 330 2005 27 http://www.bmj.com/content/330/7481/27.full.pdf Accessed June 19, 2011
8. D. Morrison, D. FitzPatrick, I. Hanson National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology J Med Genet 39 2002 16 22 (Pubitemid 34093600)
9. A. Busby, H. Dolk, R. Collin Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94 Arch Dis Child Fetal Neonatal Ed 79 1998 F168 F173
10. S.P. Shah, A.E. Taylor, J.C. Sowden Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk Invest Ophthalmol Vis Sci 52 2011 558 564
11. M.R. Stanford British Ophthalmological Surveillance Unit Steering Committee A British ophthalmological surveillance unit Br J Ophthalmol 81 1997 932 933 (Pubitemid 27493976)
12. C. Stoll, Y. Alembik, B. Dott, M.P. Roth Congenital eye malformations in 212,479 consecutive births Ann Genet 40 1997 122 128 (Pubitemid 27334332)
13. G. Vogt, M. Szunyogh, A.E. Czeizel Birth characteristics of different ocular congenital abnormalities in Hungary Ophthalmic Epidemiol 13 2006 159 166 (Pubitemid 43879816)
14. M. Clementi, R. Tenconi, F. Bianchi Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy Birth Defects Orig Artic Ser 30 1996 413 424
15. ICD-10 International Statistical Classification of Diseases and Related Health Problems 10th Revision 1994 World Health Organization Geneva
16. M.B. Forrester, R.D. Merz Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001 Birth Defects Res A Clin Mol Teratol 76 2006 187 192
17. B. Kallen, E. Robert, J. Harris The descriptive epidemiology of anophthalmia and microphthalmia Int J Epidemiol 25 1996 1009 1016 (Pubitemid 26348680)
18. I. Pecorella, V. Novacco, S. Dadalt Bilateral ocular malformations in a newborn with normal karyotype: histologic findings Ann Diagn Pathol 6 2002 319 325 (Pubitemid 35168130)
19. M.P. Schittkowski, R.F. Guthoff Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients Br J Ophthalmol 94 2010 487 493
20. S. Tucker, B. Jones, R. Collin Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos Eye 10 1996 310 314 (Pubitemid 26241499)
21. R.S. Smith, T.H. Roderick, J.P. Sundberg Microphthalmia and associated abnormalities in inbred black mice Lab Anim Sci 44 1994 551 560
22. R.N. Bamford, E. Roessler, R.D. Burdine Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects Nat Genet 26 2000 365 369
23. N.K. Ragge, I.D. Subak-Sharpe, J.R. Collin A practical guide to the management of anophthalmia and microphthalmia Eye (Lond) 21 2007 1290 1300 (Pubitemid 47541891)
24. D.O. Jesberg, C.L. Schepens Retinal detachment associated with coloboma of the choroid Arch Ophthalmol 65 1961 163 173
25. B. Patnaik, R. Kalsi Retinal detachment with coloboma of the choroid Indian J Ophthalmol 29 1981 345 349
26. S.J. Hornby, S. Adolph, C.E. Gilbert Visual acuity in children with coloboma: clinical features and a new phenotypic classification system Ophthalmology 107 2000 511 520 (Pubitemid 30192137)
27. D.R. Daufenbach, M.S. Ruttum, J.S. Pulido, R.V. Keech Chorioretinal colobomas in a pediatric population Ophthalmology 105 1998 1455 1458 (Pubitemid 28509765)
28. J. Hyer, J. Kuhlman, E. Afif, T. Mikawa Optic cup morphogenesis requires pre-lens ectoderm but not lens differentiation Dev Biol 259 2003 351 363 (Pubitemid 36836150)
29. S.U. Iseri, R.J. Osborne, M. Farrall Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies Hum Mutat 30 2009 1378 1386
30. I.C. Lloyd, J. Ashworth, S. Biswas, R.V. Abadi Advances in the management of congenital and infantile cataract Eye (Lond) 21 2007 1301 1309 (Pubitemid 47534743)
31. C.Y. Gregory-Evans, M.J. Williams, S. Halford, K. Gregory-Evans Ocular coloboma: a reassessment in the age of molecular neuroscience J Med Genet 41 2004 881 891 (Pubitemid 40007248)
32. Rare Diseases Task Force Centres of Reference for rare diseases in Europe: State-of-the-art in 2006 and recommendations of the Rare Diseases Task Force 2006 http://www.eucerd.eu/EUCERD/upload/file/Publication/RDTFECR2006.pdf Accessed June 18, 2011