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Malformations of the Eye and Orbit

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Perinatal Neuroradiology
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Abstract

The eye forms directly from the embryonic neural tube starting from the fourth week of gestation, under the regulation of several genes and proteins [1]. Malformation of the eye therefore may be isolated, accompany other complex malformations of the nervous system, or may be a part of multisystem developmental abnormalities, due to genetic, environmental, or both genetic and environmental factors. Numerous ocular and orbital anomalies can be recognized and diagnosed on clinical evaluation, but radiologic assessment is often crucial for the differential diagnosis, for the definition of the prognosis and for treatment planning. Moreover, the evaluation of the eye and orbit is a reasonable expectation as part of a detailed fetal US or MRI scan, particularly in the setting of suspected CNS malformations, so that some developmental abnormalities can be recognized also from midgestation onward [2].

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References

  1. O’Rahilly R (1983) The timing and sequence of events in the development of the human eye and ear during the embryonic period proper. Anat Embryol (Berl) 168:87–99

    Google Scholar 

  2. Burns NS, Iyer RS, Robinson AJ, Chapman T (2013) Diagnostic imaging of fetal and pediatric orbital abnormalities. AJR Am J Roentgenol 201:797–808

    Google Scholar 

  3. Gujar SK, Gandhi D (2011) Congenital malformations of the orbit. Neuroimaging Clin N Am 21:585–602

    Google Scholar 

  4. de Haan AB, Willekens B, Klooster J, Los AA, van Zwieten J, Botha CP, Spekreijse H, IJskes SG, Simonsz HJ (2006) The prenatal development of the human orbit. Strabismus 14:51–56

    Google Scholar 

  5. Dilmen G, Köktener A, Turhan NO, Tez S (2002) Growth of the fetal lens and orbit. Int J Gynaecol Obstet 76:267–271

    Google Scholar 

  6. Li XB, Kasprian G, Hodge JC, Jiang XL, Bettelheim D, Brugger PC, Prayer D (2010) Fetal ocular measurements by MRI. Prenat Diagn 30:1064–1071

    Google Scholar 

  7. Babcook C (2000) The fetal face and neck. In: Callen PW (ed) Ultrasonography in obstetrics and gynecology, 4th edn. PA Saunders, Philadelphia, pp 307–315

    Google Scholar 

  8. Stroustrup A, Levine D (2005) MR imaging of the fetal skull, face and neck. In: Levine D (ed) Atlas of fetal MRI, 1st edn. Taylor & Francis, Boca Raton, pp 73–90

    Google Scholar 

  9. Bilaniuk LT, Farber M (1992) Imaging of developmental anomalies of the eye and the orbit. AJNR Am J Neuroradiol 13:793–803

    Google Scholar 

  10. Blazer S, Zimmer EZ, Mezer E et al (2006) Early and late onset fetal microphthalmia. Am J Obstet Gynecol 194:1354–1359

    Article  PubMed  Google Scholar 

  11. Weiss AH, Kousseff BG, Ross EA, Longbottom J (1989) Simple microphthalmos. Arch Ophthalmol 107:1625–1630

    Google Scholar 

  12. Weiss AH, Kousseff BG, Ross EA, Longbottom J (1989) Complex microphthalmos. Arch Ophthalmol 107:1619–1624

    Google Scholar 

  13. Robinson AJ, Blaser S, Toi A et al (2008) MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlation. Pediatr Radiol 38:971–981

    Google Scholar 

  14. Righini A, Avagliano L, Doneda C et al (2008) Prenatal magnetic resonance imaging of optic nerve head coloboma. Prenat Diagn 28:242–246

    Google Scholar 

  15. Edward DP, Mafee MF, Garcia-Valenzuela E, Weiss RA (1998) Coats’ disease and persistent hyperplastic primary vitreous. Role of MR imaging and CT. Radiol Clin North Am 36:1119–1131

    Google Scholar 

  16. Smirniotopoulos JG, Bargallo N, Mafee MF (1994) Differential diagnosis of leukocoria: radiologic-pathologic correlation. Radiographics 14:1059–1079

    Google Scholar 

  17. Bianchini E, Zirpoli S, Righini A et al (2004) Magnetic resonance imaging in prenatal diagnosis of dacryocystocele: report of 3 cases. J Comput Assist Tomogr 28:422–427

    Google Scholar 

  18. Kaufman LM, Villablanca JP, Mafee MF (1998) Diagnostic imaging of cystic lesions in the child’s orbit. Radiol Clin North Am 36:1149–1163

    Google Scholar 

  19. Smoker WR, Gentry LR, Yee NK, Reede DL, Nerad JA (2008) Vascular lesions of the orbit: more than meets the eye. Radiographics 28:185–204

    Google Scholar 

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Doneda, C., Triulzi, F. (2016). Malformations of the Eye and Orbit. In: Perinatal Neuroradiology. Springer, Milano. https://doi.org/10.1007/978-88-470-5325-0_5

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  • DOI: https://doi.org/10.1007/978-88-470-5325-0_5

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-5324-3

  • Online ISBN: 978-88-470-5325-0

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