Réseau de recherche en santé de la vision Logo fonds de la recherche du Québec - santé Logo

Childhood blindness : Dr Cayouette and Dr Koenekoop discovery

A close collaboration between Dr. Michel Cayouette’s laboratory (Christine Jolicoeur and Maéva Langouët – Clinical Research Institute of Montreal), Director of the VHRN, and the Dr. Robert Koenekoop’s research group, VHRN member (Montreal Children’s Hospital), as well as a team of international collaborators, has demonstrated that mutations in the BCOR gene are the cause of early-onset retinitis pigmentosa (RP). This is an exceptional advance for science (early detection) and patient care (potential pathway to gene therapy).

To learn more about this discovery, you can read the article published in Science Advances in the September issue « Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration ».

Press release :