I am a professor with two main resarch tracks: the extraocular muscles and aniridia-related keratopathy. Research is my passion and the reason I came to Sweden from Portugal 30 years ago.
My research focuses mainly on the extraocular muscles (EOMs), the effectors for ocular motility. These muscles have physiological properties that separate them from other muscles, not least their distinct behavior in disease, in particular their relative insensitivity in muscular dystrophies. The main goals are to understand how the unusual molecular composition of the EOMs may contribute to their resistance to muscular dystrophies and to identify novel approaches to optimize the effect of strabismus surgery. These are important goals, since there are no good therapeutic tools to help patients with muscular dystrophies. The outcome of strabismus surgery is often unsatisfactory with very high re-operation rates, important economic burden and loss of quality of life.
Another focus of my research is aniridia-related keratopathy. Aniridia is a rare disorder caused by mutations in the PAX6 gene, a gene essential for the development of the eye. One of the most visually significant consequences is aniridia related keratopathy (ARK). Aniridia causes significant and progressive suffering leading to severe visual impairment. There is no effective therapy for ARK but because the patients get their aniridia diagnosis many years prior to the development of ARK, there is a window of opportunity for novel therapeutic approaches aimed at maintaining epithelial integrity and corneal transparency. The present project aims at identifying such possible targets!