Inherited disorders affecting the clear front window of the eye are known as corneal dystrophies. Members of a unique NZ family have significant recurrent episodes of eye pain from childhood, caused by the front surface of the cornea falling off, which often leads to progressive scarring. The cause of this rare disease is unknown, however our recent work shows this disease is due to one of two gene mutations on chromosome 10. Our aim is to understand the normal role of these genes, and the consequence of changes to these genes, in corneal health and disease. We will look at the two protein products of these genes in donor corneas to establish where the proteins sit within the outer-most layer of corneal cells, and what stimuli, e.g. stress or trauma, may change their production. We will then establish disease models in zebrafish by introducing the disease gene(s) into the developing zebrafish embryo, to see the effect on the zebrafish cornea. Using this animal model of a rare genetic disorder will help identify an underlying cause for a more common condition, recurrent corneal erosion, and will help target effective treatments for corneal wound healing, both accidental, and due to surgical interventions.
|Effective start/end date||5/1/11 → 7/1/14|
- National Science Foundation: $34,799.00