Research

One main focus of our research program is color vision and the heriditary color vision deficiencies. In the past, we have performed studies on the structure of the red-/green-opsin gene cluster, with respect to red-/green-colorblindness and blue cone monochromatism. To be mentioned are also the publications of the identification, cloning and characterisation of the causative genes for autosomal recessive achromatopsia (rod monochromatism, total coloblindness).

Another main research project focuses on the causes of hereditary optic neuropathies. In the past we have worked intensively on the maternally and mitochondrial inherited Lebers Hereditary Optic Neuropathy (LHON). Currently we are working on the autosomal dominantly inherited forms of Optic Atrophy Type Kjer (ADOA). Our lab was substantially involved in the identification, cloning and characterisation of the first causative gene.

Our most recent project deals with the identification of hereditary factors in glaucoma. And some mutations in patients with hereditary forms of glaucoma and Axenfeld-Rieger-Syndrome have been identified and described.

In the past the Molecular genetics laboratory was able to identify the first genetic cause of X-chromosomal hereditary night blindness (CSNB - Congenital stationary night blindness).