Visual impairment in humans can be due to multifactorial or monogenic factors though the distinction between these categories is not yet well defined. The most frequent multifactorial causes of visual impairment are age-related macular degeneration, glaucoma, high myopia, optic atrophy, and cataract. The monogenic eye diseases have been classified according to the location of lesions (cornea, lens, vitreous, retina, choroid), the age of onset, and the severity. We concentrate on inherited autosomal recessive retinal diseases, in particular Leber congenital amaurosis and retinitis pigmentosa, familial and age-related macular dystrophies, and vitreoretinal diseases. The aim of our studies is to identify novel eye disease genes, to decipher the molecular pathogenesis of the associated diseases, to facilitate cost-effective molecular diagnostics, and to pave the way for novel therapeutics. More detailed descriptions of these projects can be found by clicking on the project of interest below.

1. Homozygosity Mapping in Patients with Autosomal Recessive Retinal Dystrophies

2. Genetic Causes of Macular Degeneration

3. Elucidation of the Molecular basis of Retinal Detachment, Familial Exudative Vitreoretinopathy, and Wagner Disease