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Clinical database of inherited eye diseases in Quebec

Funded from 2007-2014

Description of the infrastructure

This Database is an essential tool to further understand the molecular aspects of inherited eye diseases. Indeed, it links clinical data to molecular data. Since 1996, the infrastructure accumulated information from 3170 glaucoma patients (79 families and 1991 sporadic), 968 cases of AMD (24 families and 169 sporadic cases), 15 families with Usher (129 people including 38 patients), 29 families with Stargarts disease (188 people including 45 patients) and 24 families suffering from retinitis pigmentosa (149 people including 61 patients). Some of these data were taken more 50 years ago. The database has also recruited 400 control-people.

Impact of the infrastructure

Thanks to the study of genetic mutations, the database determines the risk of developing certain inherited diseases of the eye. By studying modifier genes, the database can also foresee the evolution of glaucoma.

Accessibility

Data from the Database are available to all VHRN members that request it. They must respect the ethic rules of Quebec’s CHU.

Responsable de l’infrastructure

Vincent Raymond, MD, PhD
Département de médecine moléculaire
Université Laval

Contact person

Pascal Belleau
pascal.belleau@crchul.ulaval.ca

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