Syndromic Eye Anomalies

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


The knowledge of syndromic eye abnormalities is of central importance for the correlation of different combinations of malformations of the eye and other organs in order to determine an exact syndrome diagnosis in spontaneous abortions, pregnancy terminations, and neonates born with multiple congenital malformations. An exact diagnosis not only can provide prognostic information for the index case but also may be helpful in determining the risks for future pregnancies of the same parents. Syndromes may be the result of gross chromosomal abnormalities such as triploidy, trisomy, or monosomy, with a low risk for repeat pregnancy. The detection of monogenic heritable syndromes may offer the possibility of prenatal testing of future offspring. Known malformation sequences of unknown genetic cause also may be characterized by particular ocular anomalies.


Syndrome Triploidy Trisomy Germline mutation Developmental malformation Choristoma Patau syndrome Cyclopia Microphthalmia Cryptophthalmia Ciliopathy 


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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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