Functions

 Development of the vertebrate eye requires a series of steps including specification of the anterior neural plate, evagination of the optic vesicles from the ventral forebrain, and the cellular differentiation of the lens and retina. Homeo box-containing genes, like RAX or the transcription regulator PAX6 (MIM.607108), play a critical role in vertebrate and invertebrate eye formation.

Etiology

 germ-line mutations of RAX in microphtalmia / anophtalmia(#14662654#)

References

 Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet. 2003 Dec 8 PMID: #14662654#

 Mathers, P. H.; Grinberg, A.; Mahon, K. A.; Jamrich, M. The Rx homeobox gene is essential for vertebrate eye development. Nature 387: 603-607, 1997. PubMed ID : #9177348#