Today corneal dystrophies are treated surgically where the deposits are removed with a laser, or the patient gets a corneal transplant from a donor. However, the deposits return after a few years, and as surgery can only be used a limited number of times, there is a need for more durable solutions. Therefore, it would be ideal if there were other non-surgically ways to treat the disease, and that is exactly what a team of researchers from Aarhus University and Aalborg University Hospital have joined forces to find.

The project takes place at the Department of Molecular Biology and Genetics at Aarhus University, headed by Professor Jan J. Enghild, and at Aalborg University Hospital, headed by Professor Henrik Vorum. The research team has received a grant from the VELUX FONDEN of just over DKK 10 million to create a better foundation for the future treatment of corneal dystrophy.

Corneal dystrophy is caused by mutations in the genes

Corneal dystrophy is a hereditray disease caused by mutations in the genes coding for proteins in the cornea. So far, more than 60 different mutations are found in the gene encoding the protein Transforming Growth Factor Beta-Induced protein (TGFBIp), all of which result in a corneal clouding and thereby severe visual impairment and pain for the patient.

The TGFBIp protein is found at high levels in the cornea and also forms the bulk of the protein material in the deposits. With the new research project, the researchers want to study the molecular mechanisms underlying the deposition of TGFBIp. The physiological function of TGFBIp in normal corneas is still elusive. The researchers will seek to determine the functions of the TGFBIp as a mean to better understand the pathology of corneal dystrophy. To do so, the researchers will characterise TGFBIp's biochemical properties and interactions with other proteins in the cornea.

An imbalance in the natural turnover of TGFBIp might be a possible cause for the protein deposit, and they therefore intend to determine whether proteases have influence on the disease progression. Based on the biochemical studies, the researchers also plan to make relevant animal models, which are expected to contribute to a better understanding of the disease, and thereby ultimately to contribute to the development of a non-surgical treatment.

VELUX FONDEN is a non-profit, philanthropic foundation supporting scientific, cultural, social and environmental projects in Denmark and abroad. The foundation’s priority areas are: active senior citizens, eye research and gerontology. In addition, the foundation supports human scientific, cultural, social and environmental projects to promote a knowledge-based, informed, inclusive and sustainable society.

In 2015, VELUX FONDEN awarded DKK 221 million for non-profit purposes. VELUX FONDEN was established by Villum Kann - the founder of VELUX and other companies in the VKR Group, whose mission it is to bring daylight, fresh air and a better environment into people’s everyday lives.

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