Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

ABSTRACT: The eye primordium arises as a lateral outgrowth of the forebrain, with a transient fissure on the inferior side of the optic cup providing an entry point for developing blood vessels. Incomplete closure of the inferior ocular fissure results in coloboma, a disease characterized by gaps in the inferior eye and recognized as a significant cause of pediatric blindness. Here, we identify eight patients with defects in tissues of the superior eye, a congenital disorder that we term superior coloboma. The embryonic origin of superior coloboma could not be explained by conventional models of eye development, leading us to reanalyze morphogenesis of the dorsal eye. Our studies revealed the presence of the superior ocular sulcus (SOS), a transient division of the dorsal eye conserved across fish,

SUBMITTER: Hocking JC 

PROVIDER: S-EPMC5862500 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature