Skip to main content
SpringerLink
Log in

The Malformed Eye

  • Chapter
Ophthalmic Histopathology

  • 179 Accesses

Abstract

Basically, malformations of the eye, orbit and adnexa are encountered in three forms. First, there are ocular abnormalities of a relatively minor nature, e.g. colobomata of the uveal tract and minor malformations of the retina and optic nerve head; these are observed in otherwise normal individuals and do not require treatment. Secondly, there are those, e.g. corneal malformations, cataracts, vitreous disorders, which are amenable to surgical intervention and excised tissue may be submitted to the laboratory for investigation. Thirdly, there are those in which major or minor degrees of ocular malformation are associated with severe and often lethal systemic disorders, e.g. synophthalmia, anencephaly and gross chromosomal abnormalities such as the trisomy D group; these abnormalities may be encountered in the post-mortem room, although antenatal screening is now extremely effective in preventing such foetuses coming to term.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Brodsky MC (1994) Congenital optic disc anomalies. Sury Ophthalmol 39:89–112

    Article  CAS  Google Scholar 

  • Catalano RA (1990) Down syndrome. Sury Ophthalmol 34:385–398

    Article  CAS  Google Scholar 

  • Churchill A, Booth A (1996) Genetics of aniridia and anterior segment dysgenesis. Br J Ophthalmol 80:669–673

    Article  PubMed  CAS  Google Scholar 

  • Damji KF, Allingham RR (1997) Molecular genetics is revolutionizing our understanding of ophthalmic disease. Am J Ophthalmol 124: 530–543

    PubMed  CAS  Google Scholar 

  • Dempster AG, Lee WR, Forrester JV, McCreath GT (1983) “The morning glory syndrome” — a mesodermal defect? Ophthalmologica 187:222–230

    Article  PubMed  CAS  Google Scholar 

  • Destro M, D’Amico DJ, Gragoudas ES, Brockhurst RJ et al. (1991) Retinal manifestations of neurofibromatosis. Arch Ophthalmol 109:662–666

    Article  PubMed  CAS  Google Scholar 

  • Djano J, Griffin B, van Bruggen I, McMenamin PG (1999) Environmental scanning electron microscopic study of macrophages associated with the tunica vasculosa lentis in the developing rat eye. Br J Ophthalmol 83:1384–1385

    Article  PubMed  CAS  Google Scholar 

  • Eagle RC, Shields JA, Shields CL, Wood MG (2000) Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex. Arch Ophthalmol 118:711–715

    Article  PubMed  Google Scholar 

  • Edward DP, Li J, Sawaguchi S, Sugar J,Yue BYTJ, Tso MOM (1993) Diffuse corneal clouding in siblings with the foetal alcohol syndrome. Am J Ophthalmol 115:484–493

    PubMed  CAS  Google Scholar 

  • Goldberg MF (1997) Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). Am J Ophthalmol 124: 587–626

    PubMed  CAS  Google Scholar 

  • Gomes JA, Eagle RC, Gomes AK, Rapuano CJ, Cohen EJ, Laibson PR (1996) Recurrent keratopathy after penetrating keratoplasty for aniridia. Cornea 15:457–462

    Article  PubMed  CAS  Google Scholar 

  • Gopal L, Kini MM, Badrinath SS, Sharma T (1991) Management of retinal detachment with choroidal coloboma. Ophthalmology 98:1622–1627

    PubMed  CAS  Google Scholar 

  • Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett WH (1992) Retinal hemangioblastoma. A histologic, immunohistochemical and ultrastructural evaluation. Ophthalmology 99:140–145

    PubMed  CAS  Google Scholar 

  • Hausmann N, Stefani FH, Lund OE (1992) Diplophthalmia versus cyclopia and synophthalmia. Mechanisms of doubling of the eye. Doc Ophthalmol 79:201–219

    Article  PubMed  CAS  Google Scholar 

  • Hayashi N, Repka MX, Ueno H, Iliff NT, Green WR (1999) Congenital cystic eye: report of two cases and review of the literature. Sury Ophthalmol 44:173–179

    Article  CAS  Google Scholar 

  • Holmstrom G, Taylor D (1998) Capillary haemangiomas in association with morning glory anomaly. Acta Ophthalmol Scand 76:613–616

    Article  PubMed  CAS  Google Scholar 

  • Honovar SG, Singh AD, Shields CL, Shields JA, Eagle RC (2000) Iris melanoma in a patient with neurofibromatosis. Sury Ophthalmol 45:231–236

    Article  Google Scholar 

  • Jakobiec FA (ed) (1982) Ocular Anatomy, Embryology and Teratology. Harper and Row, Philadelphia

    Google Scholar 

  • Jalili IK, Smith NJD (1988) A progressive cone-rod dystrophy and amel-ogenesis imperfecta: a new syndrome. J Med Genet 25:738–740

    Article  PubMed  CAS  Google Scholar 

  • Jensen OA, Hagerstrand I, Brun A, Lofgren O (1993) Limb-body wall complex with anophthalmos and choroidal coloboma. Paediatr Pathol 13:505–517

    Article  CAS  Google Scholar 

  • Johnson BL, Cheng KP (1997) Congenital aphakia: a clinicopathologic report of three cases. J Paediatr Ophthalmol Strabismus 34:35–39

    CAS  Google Scholar 

  • Kaye LD, Rothnel AD, Beauchamp GR, Meyers SM, Estes ML (1992) Ocular findings associated with neurofibromatosis type II. Ophthalmology 99:1424–1429

    PubMed  CAS  Google Scholar 

  • Kim T, Cohen EJ, Schnall BM, Affel EL, Eagle RC (1998) Ultrasound biomicroscopy and histopathology of sclerocornea. Cornea 17:443–445

    Article  PubMed  CAS  Google Scholar 

  • Koole FD, Velzeboer CM, van der Harten JJ (1990) Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). Ophthalmic Paediatr Genet 11:15–21

    Article  PubMed  CAS  Google Scholar 

  • Kuchle M, Kraus J, Rummelt C, Naumann GOH (1991) Synophthalmia and holoprosencephaly in chromosome 18p deletion defect. Arch Ophthalmol 109:136–137

    Article  PubMed  CAS  Google Scholar 

  • McMenamin PG (2001) Embryology and early development of the eye and adnexa. In Forrester J, Dick A, McMenamin PG and Lee WR. The Eye. Basic Sciences in Practice, 2nd edition. Saunders, London. In press.

    Google Scholar 

  • Miller MT, Deutsch TA, Cronin C, Keys CL (1987) Amniotic bands as a cause of ocular anomalies. Am J Ophthalmol 104:270–279

    PubMed  CAS  Google Scholar 

  • Mooy CM, Clark BJ, Lee WR (1990) Posterior axial malformation and uveoretinal angiodysgenesis a neurocristopathy. Graefes Arch Clin Exp Ophthalmol 228:9–18

    Article  PubMed  CAS  Google Scholar 

  • Murata T, Hashimoto S, Ishibashi T, Inomata H, Sueishi K (1992) A case of amniotic band syndrome with bilateral epibulbar choristoma. Br J Ophthalmol 76:685–687

    Article  PubMed  CAS  Google Scholar 

  • Musarella MA (1992) Gene mapping of ocular diseases. Sury Ophthalmol 36:285–312

    Article  CAS  Google Scholar 

  • Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L (1984) Aniridia: a review. Sury Ophthalmol 28:621–642

    Article  CAS  Google Scholar 

  • Niemala A, Lemeta S, Sainio M, Rauma S et al. (2000) Haemangioblastoma of the retina: impact of von Hippel-Lindau disease. Invest Ophthalmol Vis Sci 41:1909–1915

    Google Scholar 

  • Nishida K, Kinoshita S, Ohashi Y, Kuwayama Y, Yamamoto S (1995) Ocular surface abnormalities in aniridia. Am J Ophthalmol 120:368–375

    PubMed  CAS  Google Scholar 

  • Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E (2000) Ocular colobomata. Sury Ophthalmol 45:175–194

    Article  CAS  Google Scholar 

  • Ozeki H, Shirai S, Ikeda K, Ogura Y (1999) Anomalies associated with Axenfeld-Rieger syndrome. Graefes Arch Clin Exp Ophthalmol 237:730–734

    Article  PubMed  CAS  Google Scholar 

  • Ragge NK, Falk RE, Cohen WE, Murphree AL (1993) Images of Lisch nodules across the spectrum. Eye 7:95–101

    Article  PubMed  Google Scholar 

  • Ragge NK, Baser ME, Klein J, Nechiporuk A et al. (1995) Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol 120:634–641

    PubMed  CAS  Google Scholar 

  • Riss JM, Girard NJ, Proust H, Lebreuil G, Raybaud CA, Ridings B (1995) Diffuse choroidal haemangioma: report of a clinicopathological study in a 4-year old boy. Ophthalmologica 209:284–288

    Article  PubMed  CAS  Google Scholar 

  • Russell-Eggit IM, Blake KD, Taylor DSI, Wise RKH (1990) The eye in the CHARGE association. Br J Ophthalmol 74:421–426

    Article  Google Scholar 

  • Stromland K, Miller M, Cook C (1991) Ocular teratology. Sury Ophthalmol 35:429–446

    Article  CAS  Google Scholar 

  • Torczynski E (1994) Developmental anomalies of the eye. In Garner A and Klintworth GK (eds) Pathobiology of Ocular Disease, a dynamic Approach, 2nd edition. Marcel Dekker, New York, pp 1285–1344.

    Google Scholar 

  • Velzeboer CM, van der Harten JJ, Koole FD (1989) Ocular pathology in trisomy 18. Ophthalmic Paediatr Genet 10:263–269

    Article  PubMed  CAS  Google Scholar 

  • Zhu M, Provis JM, Penfold PL (1999) The human hyaloid system: cellular phenotypes and inter-relationships. Exp Eye Res 68:553–563

    Article  PubMed  CAS  Google Scholar 

  • Zhu M, Madigan MC, van Driel D, Maslim J et al. (2000) The human hyaloid system: cell death and vascular regression. Exp Eye Res 70:767–776

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathology, University of Glasgow, Western Infirmary, Glasgow, G11 6NT, UK

    William R. Lee (Honorary Senior Research Fellow)

Authors
  1. William R. Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2002 Springer-Verlag London

About this chapter

Cite this chapter

Lee, W.R. (2002). The Malformed Eye. In: Ophthalmic Histopathology. Springer, London. https://doi.org/10.1007/978-1-4471-3910-2_8

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-3910-2_8

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-3912-6

  • Online ISBN: 978-1-4471-3910-2

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation