Genetic and environmental factors in eye diseases

Klaver is multi-talented. In addition to conducting fundamental research in mice and zebrafish, she leads large scale epidemiological studies and also performs cataract operations. With such broad interests she builds bridges between fundamental and epidemiological research and clinical practice.

Based at the Erasmus MC in Rotterdam, Klaver coordinates international research into the influence of genes and the environment on four key eye abnormalities: Myopia, age-related macular degeneration, retinal dystrophy and glaucoma. She is taking the lead of one international research consortium (CREAM) and also participating in general cohort studies such as The Rotterdam Study and Generation R.

Klaver discovered that macular degeneration has a strong genetic component and identified the first of the thirty risk-increasing genes that are now recognised. But her work also proved that smoking, poor diet and lack of exercise also significantly increase a genetic predisposition.

The CREAM consortium led by Klaver deduced from data from more than 45,000 Europeans and Asians that myopia is strongly hereditary. One in three Dutch people have a predisposition; in Asia the figure is eighty percent. More than one hundred genes were found to increase the risk. But here too the environment influences the inherited risk: children who read a lot are more likely to need “negative spectacles” later in life than children who play outside a lot.

Klaver: “At Erasmus MC we have already spent more than fifteen years researching the causes of serious eye diseases. We have set up projects in which thousands of people are regularly tested and examined for any eye defects such as myopia, retinal dystrophy, glaucoma. We record changes in the eye when they are still very small, and then follow their development. A lot of eye checks need to be done, a lot of scans and analysis with expensive equipment. Thanks to the Ammodo KNAW Award, I can now digitize and use computers to analyse scans and retina photos which had to be neglected in recent years. I can also buy important equipment in the coming years and I have been able to appoint a trained ‘perimetriste’, a colleague who can carry out visual field tests on the subjects of our study. This is essential for my research into the development of retinal dystrophies; my ultimate goal is to find new avenues for the prevention and treatment of currently largely untreatable eye diseases.”