You are here: vision-research.eu » People » Research Groups » France » Zeitz, Christina

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

Research Groups

People

Related Research Groups

bipolar cells
Oops, an error occurred! Code: 2020080900050572222a01
candidate gene analysis
Oops, an error occurred! Code: 202008090005054197c84f
candidate gene analysis
Oops, an error occurred! Code: 202008090005058ff64c1e
disease gene mapping
Oops, an error occurred! Code: 202008090005056a78a2da
electroretinography: clinical
Oops, an error occurred! Code: 2020080900050588e3699f
gene/expression
Oops, an error occurred! Code: 20200809000505f0ded423
genetics
Oops, an error occurred! Code: 2020080900050520bb997e
inner retina dysfunction: biochemistry and cell biology
Oops, an error occurred! Code: 20200809000505dba3ae29
nystagmus
Oops, an error occurred! Code: 20200809000505dba32116
pathology: human
Oops, an error occurred! Code: 20200809000505196ac775
receptors
Oops, an error occurred! Code: 202008090005050817463c
retina
Oops, an error occurred! Code: 20200809000505eb7b7a30
retina: distal (photoreceptors, horizontal cells, bipolar cells)
Oops, an error occurred! Code: 202008090005055d6f1900
night blindness
Oops, an error occurred! Code: 20200809000505fa84de88
CSNB
Oops, an error occurred! Code: 20200809000505acaeb272
phenotype-genotype correlation
Oops, an error occurred! Code: 2020080900050519f3ea86
nyctalopin
Oops, an error occurred! Code: 20200809000505819ad6fd
retinal dystrophies
Oops, an error occurred! Code: 20200809000505aff0576e