Sporadic Eye Anomalies

  • Robert M. VerdijkEmail author
  • Martina C. Herwig-Carl


Sporadic eye anomalies are defined as congenital malformations of the eye that are not related to a heritable trait or syndromic disease. The lesions described in this chapter—anophthalmia, microphthalmia, buphthalmos, coloboma, anterior segment developmental anomalies, cataract, and calcifications of the optic nerve—may be seen as sporadic but should alert the pathologist to rule out a syndromic cause. Generalized noninfectious conditions such as anencephaly or maternal pre-eclampsia can also affect the developing fetal eye.


Anophthalmia Microphthalmia Buphthalmos Coloboma Morning glory syndrome Cataract Calcification Retinal hemorrhages 


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© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Pathology, Section Ophthalmic PathologyErasmus MC University Medical Center RotterdamRotterdamThe Netherlands
  2. 2.Department of PathologyLeiden University Medical CenterLeidenThe Netherlands
  3. 3.Department of OphthalmologyUniversity Hospital BonnBonnGermany

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