Genetics of congenital eye malformations: insights from chick experimental embryology

Hum Genet. 2019 Sep;138(8-9):1001-1006. doi: 10.1007/s00439-018-1900-5. Epub 2018 Jul 6.


Embryological manipulations in chick embryos have been pivotal in our understanding of many aspects of vertebrate eye formation. This research was particularly important in uncovering the role of tissue interactions as drivers of eye morphogenesis and to dissect the function of critical genes. Here, we have highlighted a few of these past experiments to endorse their value in searching for hitherto unknown causes of rare congenital eye anomalies, such as microphthalmia, anophthalmia and coloboma. We have also highlighted a number of similarities between the chicken and human eye, which might be exploited to address other eye pathologies, including degenerative ocular diseases.

Publication types

  • Review

MeSH terms

  • Animals
  • Chickens / genetics*
  • Coloboma / genetics
  • Eye / physiopathology
  • Eye Abnormalities / genetics*
  • Humans
  • Microphthalmos / genetics
  • Signal Transduction / genetics