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Identification of gene defects leading to non progressive or progressive ocular eye diseases from A(udo)-Z(eitz)
Congenital stationary night blindness (CSNB) is a group of genetically and clinically heterogeneous retinal disorders. Genes involved in the different forms of CSNB encode proteins located in the phototransduction cascade or that are important for the retinal signalling from photoreceptors to adjacent bipolar cells. We have identified several genes and their pathogenic mechanisms, which are associated with the different forms of CSNB, by either positional cloning or candidate gene approaches.
These approaches will be now applied together with my colleague Dr. Isabelle Audo to identify gene defects leading to other eye diseases like rod-cone dystrophies, nystagmus and glaucoma in patients seen at the CHNO of the Quinze-Vingts.
These findings combined with exhaustive genotype-phenotype correlations deliver the basis for the preparation of patients for a clinical trial, if a gene therapy of the respective gene is available.
Department of Genetics
17, rue Moreau
75012 Paris
France
Phone: +33 1 53 46 25 40
Fax: +33 1 53 46 26 02