Corneal Dystrophy is a group of inherited eye diseases and an important cause of vision loss. The hallmark of corneal dystrophy is structural abnormality of the cornea, including cell fragility and/or the accumulation of proteinaceous aggregates, and/or corneal scarring, all of which lead to loss of transparency and varying degrees of visual impairment.
Most corneal dystrophy is inherited in a dominant fashion and is currently incurable except for possible grafting of donor corneal material which is often the only option as an end stage treatment for many of the stromal corneal dystrophies. Recurrence of the pathology within the transplant or its margins and the lifelong potential for rejection all pose problems to success of long term visual rehabilitation. To date no treatment has been developed which addresses the underlying pathology.
Corneal dystropy causing mutations work by dominant-negative interference which hinders the use of conventional gene replacement therapy, as the dominating mutant would impede the replacement gene. We are developing gene silencing and gene editing treatments, through siRNA and CRISPR Cas9 technologies, to treat dystrophies of the cornea and other areas of the eye.