Genetic epidemiologic studies on age-related maculopathy: a population-based approach

Abstract

The western world is aging rapidly. In the Netherlands, the current mean life expectancy for men and women is 74.6 and 80.4 years, respectively, and those over 65 years of age comprise 13.6% of the total population. This proportion of elderly is expected to increase considerably within the coming years, and this will lead to higher frequencies of diseases. Age-related maculopathy (ARM) is one of those frequent geriatric diseases. It is an eye disease ultimately leading to blindness. The prevalence of the clinical end stages of this disorder range from 1 % in those aged 60 years of age to 10% in those aged 85 years and older. At least 60000 Dutch subjects are severely affected by these end stages, also called age-related macular degeneration (AMD). AMD has a great impact on visual function and the performance of daily tasks, in particular because there are still no means for long term restoration of vision. During the last decade there has been steadily increasing research activity investigating the disease etiology. It became better known that the pathogenesis was complex with a variety of risk factors involved. Family reports and twin studies pointed to a genetic background, and epidemiologic studies suggested environmental influences from vascular and dietmy factors, sunlight and smoking. However, findings were not unequivocal, and the evidence on most of these relations was insufficient and inconclusive. This called for more extensive research into the causes of ARM. This thesis aimed to answer the following questions: Pal'l I: What is the current genetic epidemiologic knowledge on ARM? Pari Jl: What is the incidence of AMD, what is the natural course of the disease, and what is the relation with visual impairment