Funding outcome

The outer layer of our eyes is the cornea. Individuals with 'corneal dystrophy' experience an accumulation of fluid in their cornea, which profoundly impairs vision. Indeed, the principal reason for corneal transplant is corneal dystrophy. Corneal dystrophy arises because of genetic mutations, meaning that the disease can be inherited from one's parents. Congenital Hereditary Endothelial dystrophy (CHED) arises at birth or in the early years of life. Fuchs endothelial corneal dystrophy (FECD) arise in the fifth or sixth decade of life and progressively impairs vision. For reasons unknown, the incidence of the disease is three-fold higher in women than men. Moreover, FECD is common, affecting 4% of the population. Mutations of a gene called SLC4A11 cause both CHED and FECD. In this project, we will examine a new idea about how SLC4A 11 mutations lead to corneal blindness. We will test the idea that SLC4A 11 helps corneal cells to stay stuck in place. We believe that corneal blindness occurs when some cells become 'unstuck'. If we are correct, then this will open up new possibilties to treat corneal blindness. This work is especially significant as corneal transplant is the only treatment availble to individuals with corneal dystrophies. Most CHED patient are found in the developing world, without access to transplant. The therapy being developed in this study holds promise to provide an accessible treatment for childhood CHED patients.