Unmet Need:
Fuchs’ endothelial corneal dystrophy (FECD) is a genetic disease affecting the cornea and is estimated to affect 7% of the adult population (see Aiello et al. 2022). The first genetic defect shown to cause FECD was a point mutation in the alpha 2 collagen 8 gene (Col8a2). The disease results in a buildup of fluid in the cornea and causes clouding and blurring of vision. Although a patient is born with the condition, it is not detectable or symptomatic until middle age or later. Early stage treatments can intervene in the progression of the disease using eyedrops or eye ointments, but the advanced stage often requires corneal transplant surgery. Current therapies also cannot reverse disease progression. Therefore, there is a strong need to further understand the disease and develop more treatments to halt and possibly reverse disease progression.
Technology Overview:
Researchers at Johns Hopkins have developed a Col8a2 knock-in mouse model that contains a point mutation known to cause early onset Fuchs endothelial corneal dystrophy. The inventors introduced a mutation from glutamine to lysine at the 455 position to replicate a known human mutation in the mice. The result is a mouse line that develops a highly similar corneal disease to the human disease FECD. The mouse line provides an opportunity to study the pathobiology of disease and potential treatments to help individuals affected.
Stage of Development:
Mouse line is developed.
Available through Jackson Laboratory
https://www.jax.org/strain/029749
Publication:
Jun, Albert S., et al. Human Molecular Genetics, 10.1093, 2012
