Norrie Disease (ND)
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The clinical symptoms of Norrie disease (ND; OMIM 310600), a rare X-linked recessive disorder, comprise congenital blindness, progressive deafness and, in some cases, intellectual disabilities, behavioral difficulties and peripheral vascular diseases (varicose veins, venous insufficiency). ND is caused by mutations in the Norrie disease pseudoglioma (NDP) gene (NDP gene mutations).
We have a longstanding interest in Norrie disease as illustrated by gene identification in 1992 by positional cloning and the generation of a mouse model for the disease in 1996. The detailed analysis of the knockout mouse line has revealed striking similarities of the disease phenotype in human patients and affected mice regarding the ocular and audiologic symptoms.
In our lab, we focus on the investigation of the molecular pathophysiology of
the disease phenotype, which is similar in different vasoproliferative
blindness diseases, especially with regard to abnormalities in the retinal
For this purpose, our group developed a knockout mouse model resembling the human disease in eye and ear. We are analyzing the early development of the disease and its progression by different molecular biological methods, including gene and protein expression (realtime RT-PCR, Western blots, immunohistochemistry). Further, we investigate recombinant protein function in cell culture experiments as well as in vitro assays.
We also offer clinical / genetic testing for Norrie disease and familial exudative vitreoretinopathies by direct (Sanger) sequencing of NDP, FZD4, LRP5 and TSPAN12. Norrin, encoded by NDP, is a ligand for the receptor complex consisting of FZD4, LRP5 and TSPAN12. More information on the functional link between the 4 genes is also available on this website at exudative vitreoretinopathies. For details regarding clinical testing please refer to our respective web pages. Genetic Testing
Wolfgang Berger (PhD)
Britta Seebauer (PhD student)
Galli-Resta (PhD), Istituto di Neuroscienze CNR, Pisa, Italy
Rolf Jaussi (PhD), Paul-Scherrer-Institut, Villigen
Ulrich Luhmann (PhD), Institute of Ophthalmology, UCL, UK
Charlotte Poloschek (MD), University Eye Clinic Freiburg, Germany
Katherine B. Sims (MD), Harvard Medical School, Neurogenetics Clinic, Boston, USA