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Isabelle Audo

Current Research Projects

With my colleague, Dr Christina Zeitz, our group focuses on inherited stationary and progressive retinal diseases to decipher their genetic mechanisms. Studies include screening of known genes as well as linkage and candidate gene analysis in phenotypically well-characterized patients. Further functional analyses are conducted to better understand the role of new genes. These findings combined with exhaustive genotype-phenotype correlations deliver the basis for preparation of patients for future clinical trial.


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

Selected Publications

  1. Audo I, Michaelides M, Hawlina M., Robson AG, Neveu MN, Hogg CR, Webster AR, Moore AT, Bird AC, Holder GE.
    Phenotypic and genotypic characterization of patients with Enhanced S cone syndrome.
    Invest. Ophthal. Vis. Sci. USA, 2008; 49: 2082-2093.
  2. Audo I, Robson AG, Moore AT, Holder GE.
    Post-phototransduction and inner retinal dysfunction: clinical phenotypes and disease mechanisms.
    Survey of Ophthalmol. 2008; 53: 16-40.
  3. Audo I, Vanakker OM, Leroy BP, Smith A, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR.
    Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Invest. Ophthal. Vis Sci. USA. 2007;48 4250-4256.
  4. Audo I, Tsang SH, Fu AD, Barnes J, Holder GE, Moore AT
    Autofluorescence imaging in a case of benign familial fleck retina.
    Arch of Ophthalmol, 2007; 125: 714-715.
  5. Audo I, Webster AR, Bird AC, Holder GE, Kidd MN.
    Progressive retinal dysfunction in diffuse unilateral subacute neuroretinitis.
    Br J Ophthalmol. 2006; 90: 793-794.
  6. Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, , Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ.
    Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families.
    Invest. Ophthal. Vis. Sci. USA, 2005; 46: 1891-1898.
  7. - Fintz A.-C., Audo I., Hicks D., Mohand-Said S., Léveillard T., Sahel J.
    (F.A.C. and A.I. should be considered as first co-autors).
    Partial characterisation of retinal-derived cone neuroprotection in two models of photoreceptor degeneration.
    Invest. Ophthal. Vis. Sci. USA, 2003 ; 44 : 818-825.
  8. Audo I., Darjatmoko S.R., Schlamp C.L., Lokken J.M., Lindstrom M.J., Albert D.M., Nickells R.W.
    Vitamin D Analogs Increase p53, p21 and Apoptosis in a Xenograft Model of Human Retinoblastoma..
    Invest. Ophthal. Vis. Sci. USA, 2003 : 44 :4192-4199.
  9. Dawson D.G., Gleiser J., Zimbric M.L., Darjatmoko S.R., Frisbie J.C., Lokken J.M., Lindstrom M.J., Audo I., Strugnell S.A., Albert D.M.
    Toxicity and dose-response studies of 1alpha- hydroxyvitamin D2 in LH beta-Tag transgenic mice.
    Trans. Am. Ophthalmol. Soc. 2002; 100: 125-129.
  10. Albert D, Nickells R, Gamm D, Zimbric M, Schlamp C, Lindstrom M, Audo I.
    Vitamin D analogs, a new treatment for retinoblastoma: The first Ellsworth Lecture.
    Ophthalmic Genet. 2002; 23:137-156
  11. Mouriaux F., Audo I., Defoort-Dhellemes S., Labalette P., Guilbert F., Constantinides G., Pellerin P.
    Prise en charge des microphtalmies et des anophtalmies congénitales.
    J. Fr. ophtalmol. ; 1997, 20, 8, 583-591.
Isabelle Audo
Isabelle Audo

Research Group

Identification of gene defects leading to non progressive or progressive ocular eye diseases from A(udo)-Z(eitz)

[more information]


Centre de Recherche Institut de la Vision, UMR S 968 Inserm

Université Pierre et Marie Curie
CHNO des Quinze-Vingts
Department of Genetics

17, rue Moreau
75 012 Paris

Phone +33 1 53 46 25 42
Fax: +33 1 53 46 25 02




CV of Isabelle Audo [pdf]

Research Groups


Related Research Groups

age-related macular degeneration
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candidate gene analysis
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electrophysiology: clinical
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imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound)
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Leber congenital amaurosis
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linkage analysis
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macular dystrophy, inherited
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retinal degenerations: cell biology
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retinal degenerations: hereditary
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retinitis pigmentosa
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