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Institut für Medizinische Molekulargenetik

Eye Diseases

We identified by positional cloning and candidate gene approaches eight genes (CABP4, CACNA2D4, GRM6, NDP, NYX, RP2, RPGR, and SLC16A12) that are mutated in familial and sporadic forms of human eye diseases (cataract, Wagner disease, cone dystrophy, retinitis pigmentosa, night blindness, and Norrie disease). For some of them, the precise role of the corresponding gene product(s) in retinal tissue is poorly characterized. It is our goal to understand the molecular pathophysiology of these diseases as a prerequisite to develop novel therapeutic interventions.


The group of retinal and vitreoretinal diseases (cone dystrophies, exudative vitreoretinopathies, macular degenerations, night blindness, retinitis pigmentosa) is particularly heterogeneous. Mutations in more than 250 genes can give rise to about 20 different retinal and vitreoretinal phenotypes. For more details please refer to:

Berger W, Kloeckener-Gruissem B, Neidhardt J (2010) The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 29:335-375

Disease classification overview.

Wolfgang Berger (PhD)
Silke Feil
David Grubich Atac (MD/PhD)
Samuel Koller (PhD)
Jordi Maggi (PhD)
Kevin Maggi

Weiterführende Informationen

Fundus normal

Normal fundus photograph

The fundus shown here is completely normal. Fundus photography is a diagnostic tool for degenerative retinal diseases and can reveal characteristic changes as for example in retinitis pigmentosa or choroideremia.


Patient fundus photograph

Fundus photograph from a patient diagnosed with Malattia leventinese (autosomal dominant drusen). The disease is caused by a pathogenic sequence variant (c.1033C>T; p.(Arg345Trp)) in the EFEMP1 gene.