Molecular Ophthalmogenetics - Arthur A.B. Bergen

Our previous research: Before 2004, we focussed on positional identification of monogenic retinal disorders, and we facilitated molecur diagnostics and genomics based experimental therapies. We were actively involved in the discovery of disease genes and molecular mechanisms implicated in Norrie disease, retinitis pigmentosa (type 2 and 12), Best disease, ocular albinism (type 1), pseudoxanthoma elasticum (PXE), stationary night blindness (3 types) and many others. Today, we only identify new monogenic genes as a good opportunity comes along.

Since 2004, we focussed on the elucidation of the molecular etiology of age-related macular degeneration. We combined the results of large scale genetic association studies, gene expresssion studies and functional data into a molecular model of AMD. We (currently) use this model to facilitate new molecular based diagnostics and therapies. In 2010, we received a prestigious national research prize for this AMD research.


Our current aim: To elucidate the pathobiology of complex neuro-ophthalmic disorders, including age-related macular degeneration (AMD) and primary open angle glaucoma (POAG).  Our fundamental research into the molecular machinery, function and pathoplogy of the neuro-epithelial outer blood-retina barriers of the eye is instrumental for this purpose. Again, we also aim to facilitate molecular diagnostics and experimental therapeutic research.


Our research questions: Why do we loose vision as we age? What are the common denominators of retina and brain disease? What are the specific molecular and cellular mechanisms underlying age-related macular degeneration and primary opem angle glaucoma ? Can we, ultimately, develop a rational genomics-driven prevention or therapy for these disorders?

Our experimental approach: Depending on the research question(s) asked, we study human patients, human (patient) material, cell lines or transgenic mouse models with a range of  in silico, molecular, cellular or functional techniques and methodologies. Typically, we follow a genomics driven approach, from molecule to man.

Our Ophthalmogenetics centre: Together with the departments of ophthalmology and clinical genetics of the AMC, we form a strong international ophthalmogenetic centre, in which ophthalmogenetic research, education and patient care are combined. Cornerstone of this centre is the presence of a unique register/biobank of over 22.000 patients with genetic eye disorders, which is held by the NIN since 1965.

Our collaborations: We interact substantially with several (inter-)national research groups, which provide complementary resources, expertise(s) or interests.