2013-30: Genetic epidemiological studies of retinitis pigmentosa - insights translated into clinical practice
Of all hereditary retinal dystrophies, retinitis pigmentosa (RP) is the most frequently occurring disorder with a frequency 1:4000. The visual morbidity of this disease is high; patients eventually suffer from severe visual impairment due to the death of photoreceptors and retinal pigment epithelium cells. During the last decades, molecular genetic studies have revealed the underlying molecular cause in~50% of patients, and more than 60 genes have been shown to be involved in the pathogenesis. The knowledge on the genes and pathways involved in RP has led to the development of new therapies that are currently still in an experimental phase. These include gene-specific therapies as well as more general and pathway-specific therapeutics.
The overall aim of the current study is to investigate the genetic epidemiology of RP, to determine biomarkers of disease severity, to establish a preferred practice pattern for counselling, and to make recommendations for eligibility for (future) therapies. To achieve this, we intend to collect retrospective and prospective clinical, genetic, and environmental data on 1000 RP patients, and search for metabolic changes in the aqueous humor in a subset of patients.