Norrie Disease

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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, mental retardation. The disease is caused by mutations in the Norrie disease pseudoglioma (NDP) gene (NDP gene mutations). Mutations in this gene have also been found in a variety of other recessive and sporadic vitreoretinal diseases, including exudative vitreoretinopathy (OMIM 305390; EVR), retinopathy of prematurity (ROP, stages 4b and 5) and Coats' disease (OMIM 300216). High phenotypic variability even in patients from one family carrying the same mutation has been noted, implicating an involvement of modifier genes or other disease-modulating factors.
In our lab, we focus on the investigation of the molecular pathophysiology of the disease phenotype, which is quite similar in this group of vasoproliferative blindness diseases, especially with regard to the defects in the retinal vasculature (angiogenesis).
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 exudative vitreoretinopathies by direct sequencing of the following genes: NDP, FZD4, LRP5 and TSPAN12. For details regarding clinical testing please refer to our respective web pages. Genetic Testing

TEAM MEMBERS

Wolfgang Berger (PhD)
Silke Feil
Lucas Mohn (PhD student)
Britta Seebauer (PhD student)
Jurian Zürcher (PhD student)

COLLABORATORS

Lucia 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