The Role of Genetic Mutations on Genes PAX2 & PAX6 in Cyclopia Syndrome

Authors: Shahin Asadi*

DOI: 10.23880/nnoaj-16000147

Volume 5, Issue 1

Abstract

Cyclopia syndrome typically coexists with holoprosencephaly. This ocular lesion may present as complete ocular fusion in a single orbit or as two eyes in a single orbit. Eye defects linked with cyclopia syndrome include colobomas (gaps) in the iris, retina, and optic nerve; inconstant optic nerve numbers (either one or two is possible), and an absent or abnormal optic chiasm. Cyclopia syndrome is caused by mutations in the PAX2 and PAX6 genes. Cyclopia syndrome occurs when the rostral (anterior) portion of the notochord and adjacent mesoderm are deficient in mass. This shortage leads to the aberrant induction of the forebrain tissues followed by severe derangement of midline facial development.

Keywords: Cyclopia Syndrome; Genetic Mutations; PAX2; PAX6 Genes; Holoprosencephaly

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