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Department of Genetics

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.

Methodology

  • electrophysiology, psychophysics, autofluorescence, OCT
  • genotyping microarray analysis, sequencing, linkage
  • cellular biology and biochemical techniques, generation and characterization of animal models

Scientific Cooperations

Group Leader

Christina Zeitz

[more information]

Contact

Institut de la Vision

Department of Genetics

17, rue Moreau
75012 Paris
France

Phone: +33 1 53 46 25 40
Fax: +33 1 53 46 26 02

Email:
christina.zeitz[at]inserm.fr

Website:
www.fondave.org/-Team-of-C-Zeitz-.html

Current Research Projects

  • Project 1
    Role of nyctalopin in signal transmission from photoreceptors to bipolar cells
  • Project 2
    Candidate gene analysis for autosomal recessive CSNB
  • Project 3
    Phenotype-genotype correlations in patients with autosomal dominant and autosomal recessive rod-cone dystrophies
  • Project 4
    Identification of gene defects involved in congenital nystagmus
  • Project 5
    Development of therapeutic strategies in patient rhodopsin mutations

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