AVN researchers identify a novel ocular disease – Superior Coloboma

A recently published paper in PLoS Genetics (Hocking et al., March 2018) is the culmination of a long-standing collaborative project by two AVN labs (PIs: Ordan Lehmann and Andrew Waskiewicz). The group identified eight patients with tissue gaps in the superior portion of the iris, retina, and/or lens – a novel congenital disease the researchers termed Superior Coloboma. By using zebrafish to revisit ocular development, the authors discovered the superior ocular sulcus, a transient groove bisecting the dorsal retina and the potential origin of superior coloboma. Moreover, they showed how patterning cues control formation and closure of the sulcus and its developmental function in directing growing ocular blood vessels.