José-Alain Sahel

Summary

Affiliation: Institut de la Vision (Inserm/UPMC/CNRS)
Location: Paris, France
URL: http://www.institut-vision.org/index.php?option=com_content&view=article&id=48%3Aequipe-de-j-a-sahel&catid=17%3Afiches&Itemid=15&lang=en
Summary:
Dr José-Alain Sahel is currently the Director of the Vision Institute and the Laboratory of Excellence "LIFESENSES: senses for a lifetime". He is Professor of Ophthalmology at Pierre and Marie Curie University Medical School, Paris, France and Cumberlege Professor of Biomedical Sciences at the Institute of Ophthalmology, University College London, UK. He oversees the research centre that functions in synergy with the Quinze-Vingts National Ophthalmology Hospital and whose primary focus is understanding the mechanisms associated with eye diseases, and conception and evaluation of innovative treatments. The Vision Institute comprises more than 15 principal investigators and more than 220 researchers focused on developing novel therapeutic strategies for ocular diseases. Dr Sahel graduated from Paris University Medical School and performed his residency in Ophthalmology in Paris and Strasbourg. He was a research fellow at the Massachusetts Eye and Ear Infirmary, Harvard Medical School and a visiting lecturer at the Department of Ophthalmology, Harvard Medical School and the Department of Ophthalmology and Visual Sciences, University of Wisconsin. Dr Sahel served as Director of the Eye Pathology Laboratory at the Louis Pasteur University, Strasbourg and moved to the Pierre and Marie Curie University in 2002 as Professor of Ophthalmology, Chair of a Department of Ophthalmology at the Quinze-Vingts National Ophthalmology Hospital and at the Rothschild Ophthalmology Foundation, and coordinator of the Ophthalmology Clinical Investigation Centre and the National Reference Centre for Retinal Dystrophies. His laboratory conducts translational research on treatments for currently untreatable retinal diseases. Dr Sahel published over 200 peer-reviewed articles in specialty and general audience peer-reviewed journals. He has been the recipient of numerous awards, including Foundation Fighting Blindness Trustee Award, Alcon Research Institute Award for Excellence in Vision Research, Grand Prix NRJ-Neurosciences-Institut de France. Dr Sahel is a Member of the Academy of Sciences, Institut de France. He sits on ten editorial boards, including the Journal of Clinical Investigation, Science Translational Medicine, and Archives of Ophthalmology.
Grants:
Médaille de thèse (1980) ; Prix IPSEN de la recherche, Fondation IPSEN (1985) ; Prix de la Fondation de la recherche thérapeutique (1986) ; Research to Prevent Blindness International Scholar Award (1990); Prix de la recherche, Société française dophtalmologie (1990) ; Prix de parrainage, Fondation Alsace (1994) ; Ophtalmologiste de lannée (1998) ; Médaille dOr du Mérite Typhlophile, Paris (2001) ; Chevalier de l’Ordre national du mérite (2002) ; Prix Coup délan de la Fondation Schuller-Bettencourt (2002) ; TrusteeAward (avec Thierry Léveillard), Foundation Fighting Blindness, États-Unis (2005); Prix Emilia Valori, Académie des sciences (2005) ; Membre de l’Académie européenne d’Ophtalmologie (2006) ; Grand Prix scientifique de la Fondation NRJ, Institut de France (2006) ; Alcon Research Institute Alumni Award for Excellence in Vision Research (2006); Membre de l’International Academy of Ophtalmology (2007) ; Prix des Bâtisseurs, Réseau de Recherche en Santé de la Vision, Québec (2007) ; Prix Altran pour l’innovation, Fondation Altran (2007) ; Médaille d’or, Université Pierre et Marie Curie (2008) ; Chevalier de la Légion d’Honneur (2008) ; Membre de l’Académie des Sciences, Institut de France (2008) ; Doctorat Honoris Causa, Université de Genève (2010)
Publications:
2011
Clerin E, Wicker N, Mohand-Said S, Poch O, Sahel JA, Leveillard T. e-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa. BMC Ophthalmol. 2011 Dec 20;11(1):38. [Epub ahead of print]
Delyfer MN, Raffelsberger W, Mercier D, Korobelnik JF, Gaudric A, Charteris DG, Tadayoni R, Metge F, Caputo G, Barale PO, Ripp R, Muller JD, Poch O, Sahel JA, Léveillard T. Transcriptomic analysis of human retinal detachment reveals both inflammatory response and photoreceptor death. PLoS One. 2011;6(12):e28791.
Bouaita A, Augustin S, Lechauve C, Cwerman-Thibault H, Bénit P, Simonutti M, Paques M, Rustin P, Sahel JA, Corral-Debrinski M. Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy. Brain. 2011 Nov 26. [Epub ahead of print]
Bujakowska K, Audo I, Mohand-Saïd1 S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2011 Nov 7. doi: 10.1002/humu.21653. [Epub ahead of print]
Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Hum Mutat. 2011 Nov 2. doi: 10.1002/humu.21640. [Epub ahead of print]
Busskamp V, Picaud S, Sahel JA, Roska B. Optogenetic therapy for retinitis pigmentosa. Gene Ther. 2011 Oct 13. doi: 10.1038/gt.2011.155. [Epub ahead of print]
Wersinger E, Bordais A, Schwab Y, Sene A, Bénard R, Alunni V, Sahel JA, Rendon A, Roux MJ. Re-Evaluation of Dystrophins Localization in the Mouse Retina. Invest Ophthalmol Vis Sci. 2011 Sep 6.
Akesbi J, Adam R, Rodallec T, Barale PO, Ayello-Scheer S, Labbé A, Laroche L, Sahel JA, Nordmann JP. [Intraocular foreign bodies (IOFB) of the posterior segment: Retrospective analysis and management of 57 cases.] Fr Ophtalmol. 2011 Sep 2.
Galy A, Schenck A, Sahin HB, Qurashi A, Sahel JA, Diebold C, Giangrande A. CYFIP dependent Actin Remodeling controls specific aspects of Drosophila eye morphogenesis. Dev Biol. 2011 Aug 22.
Lelièvre EC, Lek M, Boije H, Houille-Vernes L, Brajeul V, Slembrouck A, Roger JE, Sahel J, Matter JM, Sennlaub F, Hallböök F, Goureau O, Guillonneau X. Ptf1a/Rbpj complex inhibits ganglion cell fate and drives the specification of all horizontal cell subtypes in the chick retina. Dev Biol. 2011 Jul 31. [Epub ahead of print]
Cohen SY, Bourgeois H, Corbe C, Chaine G, Espinasse-Berrod MA, Garcia-Sanchez J, Gaudric A, Hullo A, Leys A, Soubrane G, Sahel JA. RANDOMIZED CLINICAL TRIAL FRANCE DMLA2: Effect of Trimetazidine on Exudative and Nonexudative Age-Related Macular Degeneration. Retina. 2011 Aug 4. [Epub ahead of print]
Tick S, Rossant F, Ghorbel I, Gaudric A, Sahel JA, Chaumet-Riffaud P, Paques M. Foveal shape and structure in a normal population. Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5105-10.
Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis. 2011;17:1598-606.
E Zerbib J, Puche N, Richard F, Leveziel N, Cohen SY, Korobelnik JF, Sahel J, Munnich A, Kaplan J, Rozet JM, Souied EH. No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD. Exp Eye Res. 2011 Oct;93(4):382-6.
rrera MH, Goldschmidt P, Batellier L, Degorge S, Héron E, Laroche L, Sahel JA, Westcott M, Chaumeil C. Real-time polymerase chain reaction and intraocular antibody production for the diagnosis of viral versus toxoplasmic infectious posterior uveitis. Graefes Arch Clin Exp Ophthalmol. 2011 Jul 6. [Epub ahead of print]
Basdekidou C, Wolff B, Vasseur V, Mer YL, Sahel JA. Flat choroidal nevus inaccessible to ultrasound sonography evaluated by enhanced depth imaging optical coherence tomography. Case Report Ophthalmol. 2011 May;2(2):185-8.
Lelièvre EC, Benayoun BA, Mahieu L, Roger JE, Sahel JA, Sennlaub F, Veitia RA, Goureau O, Guillonneau X. A Regulatory Domain Is Required for Foxn4 Activity During Retinogenesis. J Mol Neurosci. 2011 Jun 24. [Epub ahead of print]
Sandali O, Barale PO, Bui Quoc E, Belghiti A, Borderie V, Laroche L, Sahel JA, Monin C. [Long-term results of the treatment of optic disc pit associated with serous macular detachment: A review of 20 cases.] J Fr Ophtalmol. 2011 Jun 6. [Epub ahead of print]
Wolff B, Maftouhi MQ, Mateo-Montoya A, Sahel JA, Mauget-Faÿsse M. Outer retinal cysts in age-related macular degeneration. Acta Ophthalmol. 2011 Jun 1. [Epub ahead of print]
Sahel JA. Quality versus quantity: assessing individual research performance. Sci Transl Med. 2011 May 25;3(84):84cm13.
Sahel JA. Spotlight on childhood blindness. J Clin Invest. 2011 Jun 1;121(6):2145-9.
Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis. 2011 May 11;6:21.
Liang F, Barale PO, Hoang Xuan K, Paques M, Sahel JA. Subretinal lymphomatous infiltration in primary intraocular lymphoma revealed by optical coherence tomography. Graefes Arch Clin Exp Ophthalmol. 2011 Apr 21. [Epub ahead of print]
Schweitzer C, Bonnel S, Le Mer Y, Wolff B, Colin J, Sahel JA. [Surgical management of sub-retinal haemorrhage secondary to polypoidal choroidal vasculopathy.] J Fr Ophtalmol. 2011 Apr 18. [Epub ahead of print]
Perol J, Wolff B, Sahel JA, Le Mer Y. [Intravitreal bevacizumab treatment for choroidal neovascularization in Bests disease]. J Fr Ophtalmol. 2011 May;34(5):281-6.
Audo I, Lancelot ME, Mohand-Saïd S, Antonio A, Germain A, Sahel JA, Bhattacharya SS, Zeitz C. Novel C2orf71 mutations account for ~1% of cases in a large French arRP cohort. Hum Mutat. 2011 Apr;32(4):E2091-103.
Sarda V, Nakashima K, Wolff B, Sahel JA, Paques M. Topography of patchy retinal whitening during acute perfused retinal vein occlusion by optical coherence tomography and adaptive optics fundus imaging. Eur J Ophthalmol. 2011 Feb 23. [Epub ahead of print]
Audo I, El Sanharawi M, Vignal-Clermont C, Villa A, Morin A, Conrath J, Fompeydie D, Sahel JA, Gocho-Nakashima K, Goureau O, Paques M. Foveal Damage in Habitual Poppers Users. Arch Ophthalmol. 2011 Jun;129(6):703-8.
Borsali E, Goldschmidt P, Mann F, Sterkers M, Le Bouter A, Ailem N, Legrand P, Gaujoux T, Batellier L, Sullam-Rea ML, Bouaziz T, Sahel JA, Chaumeil C. [Fusobacterium nucleatum isolated from a patient presenting lachrymal canaliculitis.] J Fr Ophtalmol. 2011 Mar;34(3):188.e1-4.
Fradot M, Picaud S, Fradot V, Léveillard T, Sahel JA, Roska B, Busskamp V, Cronin T, Bennett J. Gene therapy in ophthalmology: validation on cultured retinal cells and explants from post-mortem human eyes. Hum Gene Ther. 2011 May;22(5):587-93.
Deniz S, Wersinger E, Schwab Y, Mura C, Erdelyi F, Szabó G, Rendon A, Sahel JA, Picaud S, Roux MJ. Mammalian retinal horizontal cells are unconventional GABAergic neurons. J Neurochem. 2011 Feb;116(3):350-362.
2010
Rosolen SG, Lamory B, Harms F, Sahel JA, Picaud S, LeGargasson JF. Cellular-resolution in vivo imaging of the feline retina using adaptive optics: preliminary results. Vet Ophthalmol. 2010 Nov;13(6):369-76.
Vignal-Clermont C, Audo I, Sahel JA, Paques M. Poppers-associated retinal toxicity. N Engl J Med. 2010 Oct 14;363(16):1583-5.
Yang Y, Mohand-Said S, Léveillard T, Fontaine V, Simonutti M, Sahel JA. Transplantation of photoreceptor and total neural retina preserves cone function in P23H rhodopsin transgenic rat. PLoS One. 2010 Oct 19;5(10):e13469.
Lambard S, Reichman S, Berlinicke C, Niepon ML, Goureau O, Sahel JA, Léveillard T, Zack DJ. Expression of Rod-Derived Cone Viability Factor: Dual Role of CRX in Regulating Promoter Activity and Cell-Type Specificity. PLoS One. 2010 Oct 7;5(10). pii: e13075.
Audo I, Bujakowska K, Mohand-Said S, Lancelot ME, Moskova-Doumanova V, Waseem NH, Antonio A, Sahel JA, Bhattacharya SS, Zeitz C. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet. 2010 Oct 12;11(1):145.
Faure C, Macrez R, Vivien D, Sahel JA, Bonnel S. Interaction study between rtPA and bevacizumab. Br J Ophthalmol. 2010 Sep 23.
Boni S, Barale PO, Gendron G, Poisson F, Scheer S, Sahel JA. [Surgery of the idiopathic epimacular membrane on transconjunctival 25-gauge vitrectomy (TSV): A series of 50 cases.] J Fr Ophtalmol. 2010 Sep 20.
Sahel J, Bonnel S, Mrejen S, Paques M. Retinitis pigmentosa and other dystrophies. Dev Ophthalmol. 2010;47:160-7.
Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C. An unusual retinal phenotype associated with a novel mutation in RHO. Arch Ophthalmol. 2010 Aug;128(8):1036-45.
Zerbib J, Richard F, Puche N, Leveziel N, Cohen SY, Korobelnik JF, Sahel J, Munnich A, Kaplan J, Rozet JM, Souied EH. R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population. Mol Vis. 2010 Jul 15;16:1324-30.
Paques M, Simonutti M, Augustin S, Goupille O, El Mathari B, Sahel JA. In vivo observation of the locomotion of microglial cells in the retina. Glia. 2010 Nov 1;58(14):1663-8.
Busskamp V, Duebel J, Balya D, Fradot M, Viney TJ, Siegert S, Groner AC, Cabuy E, Forster V, Seeliger M, Biel M, Humphries P, Paques M, Mohand-Said S, Trono D, Deisseroth K, Sahel JA, Picaud S, Roska B. Genetic Reactivation of Cone Photoreceptors Restores Visual Responses in Retinitis pigmentosa. Science. 2010 329(5990):413-7. Epub 2010 Jun 24.
Cwerman-Thibault H, Sahel JA, Corral-Debrinski M. Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations. J Inherit Metab Dis. 2010 Jun 23. [Epub ahead of print]
Simonutti M, Paques M, Sahel JA, Gross M, Samson B, Magnain C, Atlan M. Holographic laser Doppler ophthalmoscopy. Opt Lett. 2010 Jun 15;35(12):1941-3.
Gaujoux T, Borsali E, Goldschmidt P, Chaumeil C, Baudouin C, Nordmann JP, Sahel JA, Laroche L, Borderie VM. Fungal keratitis in France. Acta Ophthalmol. 2010 Jun 1. [Epub ahead of print]
Pruneau D, Bélichard P, Sahel JA, Combal JP. Targeting the kallikrein-kinin system as a new therapeutic approach to diabetic retinopathy. Curr Opin Investig Drugs. 2010 May;11(5):507-14.
Léveillard T, Sahel JA. Rod-derived cone viability factor for treating blinding diseases: from clinic to redox signaling. Sci Transl Med. 2010 Apr 7;2(26):26ps16.
Audo I, Sahel JA, Bhattacharya S, Zeitz C. [TRPM1, a new gene implicated in congenital stationary night blindness.] Med Sci (Paris). 2010 Mar;26(3):241-4.
Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C. EYS is a major gene for rod-cone dystrophies in France. Hum Mutat. 2010 May;31(5):E1406-35.
Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci. 2010 51(7):3687-700. Epub 2010 Feb 17.
Cronin T, Raffelsberger W, Lee-Rivera I, Jaillard C, Niepon ML, Kinzel B, Clérin E, Petrosian A, Picaud S, Poch O, Sahel JA, Léveillard T. The disruption of the rod-derived cone viability gene leads to photoreceptor dysfunction and susceptibility to oxidative stress. Cell Death Differ. 2010 Feb 5. [Epub ahead of print]
Jammoul F, Dégardin J, Pain D, Gondouin P, Simonutti M, Dubus E, Caplette R, Fouquet S, Craft CM, Sahel JA, Picaud S. Taurine deficiency damages photoreceptors and retinal ganglion cells in vigabatrin-treated neonatal rats. Mol Cell Neurosci. 2010 Apr;43(4):414-421.
Clemons TE, Gillies MC, Chew EY, Bird AC, Peto T, Figueroa MJ, Harrington MW; MacTel Research Group.Collaborators (23): Sahel JA, Guymer R, Soubrane G, Gaudric A, Schwartz S, Constable I, Cooney M, Egan C, Singerman L, Gillies M, Friedlander M, Pauleikhoff D, Moisseiev J, Rosen R, Murphy R, Holz F, Comer G, Blodi B, Do D, Brucker A, Narayanan R, Wolf S, Rosenfeld P. Baseline characteristics of participants in the natural history study of macular telangiectasia (MacTel) MacTel Project Report No. 2. Ophthalmic Epidemiol. 2010 Jan-Feb;17(1):66-73.
de Preobrajensky N, Mrejen S, Adam R, Ayello-Scheer S, Gendron G, Rodallec T, Sahel JA, Barale PO. Vitrectomie transconjonctivale 23-gauge : étude rétrospective de 164 cas consécutifs. [23-gauge transconjunctival sutureless vitrectomy: A retrospective study of 164 consecutive cases.] J Fr Ophtalmol. 2010 Feb;33(2):99-104.
Kolomiets B, Dubus E, Simonutti M, Rosolen S, Sahel JA, Picaud S. Late histological and functional changes in the P23H rat retina after photoreceptor loss. Neurobiol Dis. Apr;38(1):47-58.
Reichman S, Kalathur RK, Lambard S, Ait-Ali N, Yang Y, Lardenois A, Ripp R, Poch O, Zack DJ, Sahel JA, Léveillard T. The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina. Hum Mol Genet. 2010 Jan 15;19(2):250-61.
Bourhis A, Girmens JF, Boni S, Pecha F, Favard C, Sahel JA, Paques M. Imaging of macroaneurysms occurring during retinal vein occlusion and diabetic retinopathy by indocyanine green angiography and high resolution optical coherence tomography. Graefes Arch Clin Exp Ophthalmol. 2010 Feb;248(2):161-6.
Leveziel N, Puche N, Richard F, Somner JE, Zerbib J, Bastuji-Garin S, Cohen S, Korobelnik JF, Sahel JA, Soubrane G, Benlian P, Souied EH. Genotypic influences on severity of exudative Age-related Macular Degeneration. Invest Ophthalmol Vis Sci. 2010 May;51(5):2620-5.
Claudepierre T, Paques M, Simonutti M, Buard I, Sahel J, Maue RA, Picaud S, Pfrieger FW. Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina. Mol Cell Neurosci. 2010 Jan;43(1):164-76.
Mateo-Montoya A, Stanescu D, Wolff B, Sahel JA, Bonnel S. Cytomegalovirus retinitis associated with Goods syndrome. Eur J Ophthalmol. 2010 Mar-Apr;20(2):479-80.
2009
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):720-9.
Sene A, Tadayoni R, Pannicke T, Wurm A, El Mathari B, Benard R, Roux MJ, Yaffe D, Mornet D, Reichenbach A, Sahel JA, Rendon A. Functional implication of Dp71 in osmoregulation and vascular permeability of the retina. PLoS One. 2009 Oct 7;4(10):e7329.
Korobelnik JF, Weber M, Cohen SY, Algan M, Becquet F, Benhamou N, Bodaghi B, Caputo G, Cochereau I, Français C, Coscas G, Creuzot-Garcher C, Desmettre T, Devin F, Frau E, Gaudric A, Kodjikian L, LeMer Y, Mauget-Faysse M, Monin C, Morel C, Razavi S, Sahel J, Soubrane G, Souied E, Tadayoni R. Recommandations pour la réalisation des injections intravitréennes. J Fr Ophtalmol. 2009 Apr;32(4):288-9.
Boni S, Tuil E, Barale PO, Scheer S, Sahel JA. Aspect de nécrose maculaire précédant un trou maculaire à la suite d’un accident de laser [Aspect of necrosis preceding macular hole from laser accident]. J Fr Ophtalmol. 2009 Apr;32(4):286.e1-3.
Errera MH, Barale PO, Ounnoughene Y, Puech M, Sahel JA. Membrane épirétinienne bilatérale associée à un syndrome de Terson traitée par vitrectomie transconjonctivale sans suture à 25-gauges [25-Gauge transconjunctival vitrectomy in a case of bilateral epiretinal membrane associated with a Terson syndrome]. J Fr Ophtalmol. 2009 Apr;32(4):268-72.
Korobelnik JF, Weber M, Cohen SY, Algan M, Becquet F, Benhamou N, Bodaghi B, Caputo G, Cochereau I, Français C, Coscas G, Creuzot-Garcher C, Desmettre T, Devin F, Frau E, Gaudric A, Kodjikian L, LeMer Y, Mauget-Faysse M, Monin C, Morel C, Razavi S, Sahel J, Soubrane G, Souied E, Tadayoni R. Guidelines for intravitreal injections. J Fr Ophtalmol. 2009 Apr;32(4):e1-2.
Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O; European Alzheimers Disease Initiative Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimers disease. Nat Genet. 2009 Oct;41(10):1094-9.
Wolff B, Masse H, Bonnel S, Sahel JA, Metge F. Syndrome de Vogt-Koyanagi-Harada : corrélations angiographique et tomographique [Vogt-Koyanagi-Harada syndrome: angiographic and optical coherence tomography correlations]. J Fr Ophtalmol. 2009 Oct;32(8):610-1.
Mateo-Montoya A, Bonnel S, Wolff B, Héron E, Sahel JA. White dots in the eye fundus revealing Hodgkins lymphoma. Eye (Lond). Epub 2009 Jul 31.
Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26.
Fridlich R, Delalande F, Jaillard C, Lu J, Poidevin L, Cronin T, Perrocheau L, Millet-Puel G, Niepon ML, Poch O, Holmgren A, Van Dorsselaer A, Sahel JA, Léveillard T. The thioredoxin-like protein rod-derived cone viability factor (RdCVFL) interacts with TAU and inhibits its phosphorylation in the retina. Mol Cell Proteomics. 2009 Jun;8(6):1206-18.
Yang Y, Mohand-Said S, Danan A, Simonutti M, Fontaine V, Clerin E, Picaud S, Léveillard T, Sahel JA. Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa. Mol Ther. 2009 May;17(5):787-95.
Jammoul F, Wang Q, Nabbout R, Coriat C, Duboc A, Simonutti M, Dubus E, Craft CM, Ye W, Collins SD, Dulac O, Chiron C, Sahel JA, Picaud S. Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity. Ann Neurol. 2009 Jan;65(1):98-107.

Publications

  1. pmc Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
    Isabelle Audo
    INSERM, UMRS968, Paris, F 75012, France
    BMC Med Genet 11:145. 2010
  2. pmc Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity
    Firas Jammoul
    Institut National de la Sante et de la Recherche Medicale, U592, Institut de la Vision, Paris, France
    Ann Neurol 65:98-107. 2009
  3. pmc Rod-derived cone viability factor for treating blinding diseases: from clinic to redox signaling
    Thierry Leveillard
    Department of Genetics, Institut de la Vision, INSERM, UPMC University of Paris 06, UMR S 968, CNRS 7210, Paris F 75012, France
    Sci Transl Med 2:26ps16. 2010
  4. ncbi Targeting the kallikrein-kinin system as a new therapeutic approach to diabetic retinopathy
    Didier Pruneau
    Fovea Pharmaceuticals SA, Vision Institute, 17 rue Moreau, 75012 Paris, France
    Curr Opin Investig Drugs 11:507-14. 2010
  5. ncbi Holographic laser Doppler ophthalmoscopy
    M Simonutti
    Institut National de la Santé et de la Recherche Médicale 101, UMR S 968, rue de Tolbiac, 75654 Paris Cedex 13, France
    Opt Lett 35:1941-3. 2010
  6. ncbi Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa
    Volker Busskamp
    Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland
    Science 329:413-7. 2010
  7. doi In vivo observation of the locomotion of microglial cells in the retina
    Michel Paques
    INSERM, UMR_S968, Institut de la Vision, Paris, France
    Glia 58:1663-8. 2010
  8. pmc R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population
    Jennyfer Zerbib
    Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris 12, Creteil, France
    Mol Vis 16:1324-30. 2010
  9. doi An unusual retinal phenotype associated with a novel mutation in RHO
    Isabelle Audo
    Institut National de la Sante et de la Recherche Medicale, Paris, France
    Arch Ophthalmol 128:1036-45. 2010
  10. doi Retinitis pigmentosa and other dystrophies
    Jose Sahel
    Department of Ophthalmology of the Foundation Rothschild, Paris, France
    Dev Ophthalmol 47:160-7. 2010

Detail Information

Publications38

  1. pmc Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
    Isabelle Audo
    INSERM, UMRS968, Paris, F 75012, France
    BMC Med Genet 11:145. 2010
    ....
  2. pmc Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity
    Firas Jammoul
    Institut National de la Sante et de la Recherche Medicale, U592, Institut de la Vision, Paris, France
    Ann Neurol 65:98-107. 2009
    ..The objective of this study was to investigate the light dependence of the vigabatrin-elicited retinal toxicity and to screen for molecules preventing this secondary effect of vigabatrin...
  3. pmc Rod-derived cone viability factor for treating blinding diseases: from clinic to redox signaling
    Thierry Leveillard
    Department of Genetics, Institut de la Vision, INSERM, UPMC University of Paris 06, UMR S 968, CNRS 7210, Paris F 75012, France
    Sci Transl Med 2:26ps16. 2010
    ..This signaling pathway potentially links environmental insults to an endogenous neuroprotective response...
  4. ncbi Targeting the kallikrein-kinin system as a new therapeutic approach to diabetic retinopathy
    Didier Pruneau
    Fovea Pharmaceuticals SA, Vision Institute, 17 rue Moreau, 75012 Paris, France
    Curr Opin Investig Drugs 11:507-14. 2010
    ..Although additional studies are required to investigate the role of the KKS in early capillary loss and late-stage neovascularization processes, the blockade of the KKS is a promising therapeutic strategy for DR...
  5. ncbi Holographic laser Doppler ophthalmoscopy
    M Simonutti
    Institut National de la Santé et de la Recherche Médicale 101, UMR S 968, rue de Tolbiac, 75654 Paris Cedex 13, France
    Opt Lett 35:1941-3. 2010
    ..Wide-field maps of fluctuation spectra in the 10 Hz to 25 kHz band exhibit angiographic contrasts in the retinal vascular tree without requirement of an exogenous marker...
  6. ncbi Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa
    Volker Busskamp
    Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland
    Science 329:413-7. 2010
    ..Using human ex vivo retinas, we show that halorhodopsin can reactivate light-insensitive human photoreceptors. Finally, we identified blind patients with persisting, light-insensitive cones for potential halorhodopsin-based therapy...
  7. doi In vivo observation of the locomotion of microglial cells in the retina
    Michel Paques
    INSERM, UMR_S968, Institut de la Vision, Paris, France
    Glia 58:1663-8. 2010
    ..Our results show that the locomotion of MCs is not limited to translocation to acutely damaged area, but may also be observed in the basal state and after completion of the recruitment of MCs into scars...
  8. pmc R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population
    Jennyfer Zerbib
    Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris 12, Creteil, France
    Mol Vis 16:1324-30. 2010
    ..Our purpose was to analyze the role of the R102G polymorphism of the complement component (C3) gene in a French population, in a case-control study...
  9. doi An unusual retinal phenotype associated with a novel mutation in RHO
    Isabelle Audo
    Institut National de la Sante et de la Recherche Medicale, Paris, France
    Arch Ophthalmol 128:1036-45. 2010
    ..To report a new genetic variant in the rhodopsin gene (RHO) associated with an unusual autosomal dominant retinal phenotype...
  10. doi Retinitis pigmentosa and other dystrophies
    Jose Sahel
    Department of Ophthalmology of the Foundation Rothschild, Paris, France
    Dev Ophthalmol 47:160-7. 2010
    ..These diseases may also be complicated by macular edema...
  11. doi [Surgery of the idiopathic epimacular membrane on transconjunctival 25-gauge vitrectomy (TSV): a series of 50 cases]
    S Boni
    Centre Hospitalier National d Ophtalmologie des Quinze Vingts, Paris, France
    J Fr Ophtalmol 33:544-50. 2010
    ..The surgery of the idiopathic epimacular membrane has gained from the advent of 25-gauge transconjunctival vitrectomy (TSV) initiated by Fujii in 2002...
  12. pmc Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity
    Sophie Lambard
    Department of Genetics, INSERM, U968, Paris, France
    PLoS ONE 5:e13075. 2010
    ..Studying how their expression is regulated in the retina has implications for understanding both their activity and the mechanisms determining cell-type specificity within the retina...
  13. pmc Transplantation of photoreceptor and total neural retina preserves cone function in P23H rhodopsin transgenic rat
    Ying Yang
    INSERM, U968, Paris, France
    PLoS ONE 5:e13469. 2010
    ....
  14. doi Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort
    Isabelle Audo
    INSERM, U968, Paris, F 75012, France
    Hum Mutat 32:E2091-103. 2011
    ..To our knowledge, our study provides the first large scale screening of C2orf71 in a French arRP cohort through direct sequencing and suggests that it would account for approximately 1% of arRP cases...
  15. pmc Quality versus quantity: assessing individual research performance
    Jose Alain Sahel
    INSERM, U968, Paris F 75012, France
    Sci Transl Med 3:84cm13. 2011
    ..Here, I draw on key issues raised by this report and comment on the suggestions for improving existing research evaluation practices...
  16. pmc Flat choroidal nevus inaccessible to ultrasound sonography evaluated by enhanced depth imaging optical coherence tomography
    Chrysanthi Basdekidou
    Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
    Case Report Ophthalmol 2:185-8. 2011
    ..To demonstrate the usefulness of enhanced depth imaging optical coherence tomography (EDI-OCT) in investigating choroidal lesions inaccessible to ultrasound sonography...
  17. doi Foveal shape and structure in a normal population
    Sarah Tick
    Clinical Investigation Center 503, Centre hospitalier national des Quinze Vingts, INSERM and Université Pierre et Marie Curie Paris 6, Paris, France
    Invest Ophthalmol Vis Sci 52:5105-10. 2011
    ..The shape of the human fovea presents important but still poorly characterized variations. In this study, the variability of the shape and structure of normal foveae were examined...
  18. doi EYS is a major gene for rod-cone dystrophies in France
    Isabelle Audo
    INSERM U968, Department of Genetics, Institut de la Vision, UPMC Univ Paris 06, 17 rue Moreau, Paris, France
    Hum Mutat 31:E1406-35. 2010
    ..With a prevalence of 12% or more we provide evidence that EYS is a major gene for RP in France and probably elsewhere...
  19. pmc Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients
    Isabelle Audo
    INSERM, U968, Paris, France
    Invest Ophthalmol Vis Sci 51:3687-700. 2010
    ..For genetic diagnosis, genomic DNA of 79 families was isolated by standard..
  20. pmc Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa
    Ying Yang
    Universite Pierre et Marie Curie PARIS6, UMR S 592, Paris, France
    Mol Ther 17:787-95. 2009
    ..The demonstration at the functional level of the therapeutic potential of RdCVF in the most frequent of dominant RP mutations paves the way toward the use of RdCVF for preserving central vision in many RP patients...
  21. pmc The thioredoxin-like protein rod-derived cone viability factor (RdCVFL) interacts with TAU and inhibits its phosphorylation in the retina
    Ram Fridlich
    double daggerInstitut de la Vision, INSERM UMR592, 17 rue Moreau, 75012 Paris, France
    Mol Cell Proteomics 8:1206-18. 2009
    ..The functional interaction between RdCVFL and TAU described here is the first characterization of the RdCVFL signaling pathway involved in neuronal cell death mediated by oxidative stress...
  22. doi Genotyping microarray for CSNB-associated genes
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Invest Ophthalmol Vis Sci 50:5919-26. 2009
    ....
  23. doi Imaging of macroaneurysms occurring during retinal vein occlusion and diabetic retinopathy by indocyanine green angiography and high resolution optical coherence tomography
    Alexandre Bourhis
    Department of Ophthalmology of the Fondation Ophtalmologique Rothschild, Universite Pierre et Marie Curie PARIS6, 75019 Paris, France
    Graefes Arch Clin Exp Ophthalmol 248:161-6. 2010
    ..Here, we investigated the respective contribution of fluorescein angiography (FA), of indocyanine green angiography (ICGA) and of high-resolution optical coherence tomography (HR-OCT) to their detection...
  24. doi [25-Gauge transconjunctival vitrectomy in a case of bilateral epiretinal membrane associated with a Terson syndrome]
    M H Errera
    Service d Ophtalmologie IV, CHNO des XV XX, Paris, France
    J Fr Ophtalmol 32:268-72. 2009
    ..Following a review of the current literature on the subject we report the physiopathologic mechanisms of Terson syndrome and the explanation for the proliferative vitreoretinopathy formation...
  25. doi [Aspect of necrosis preceding macular hole from laser accident]
    S Boni
    Service 4, Centre Hospitalier National d Ophtalmologie des Quinze Vingts, Paris, France
    J Fr Ophtalmol 32:286.e1-3. 2009
    ..The macular injury by high energy laser was responsible for a necrotic modification of the macula preceding the formation of the macular hole...
  26. pmc Functional implication of Dp71 in osmoregulation and vascular permeability of the retina
    Abdoulaye Sene
    Institut National de la Sante et de la Recherche Medicale, UMR_S 968, Institut de la Vision, Paris, France
    PLoS ONE 4:e7329. 2009
    ..Furthermore, our data provide novel insights into the mechanisms of retinal homeostasis provided by Müller cells under normal and pathological conditions...
  27. pmc The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina
    Sacha Reichman
    Department of Genetics, Institut de la Vision, INSERM Université Pierre et Marie Curie Paris 6, UMR S 968, Paris, France
    Hum Mol Genet 19:250-61. 2010
    ....
  28. doi Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina
    Thomas Claudepierre
    CNRS UPR 3212, University of Strasbourg, Institute of Cellular and Integrative Neurosciences INCI, 5, rue Blaise Pascal, F 67084 Strasbourg, France
    Mol Cell Neurosci 43:164-76. 2010
    ..Our findings suggest that Npc1 is required for normal retinal function and that its absence may serve as model to study age-related degeneration of the retina...
  29. pmc TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
    Isabelle Audo
    INSERM, UMR_S968, F 75012, Paris, France
    Am J Hum Genet 85:720-9. 2009
    ..The mutation spectrum comprises missense, splice-site, deletion, and nonsense mutations. We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells...
  30. doi Genotypic influences on severity of exudative age-related macular degeneration
    Nicolas Leveziel
    Faculte de Medecine Henri Mondor, Department of Ophthalmology, APHP Assistance Publique Hôpitaux Paris, Groupe Hospitalier Albert Chenevier Henri Mondor, University Paris 12, Creteil, France
    Invest Ophthalmol Vis Sci 51:2620-5. 2010
    ..The study was conducted to establish correlations between the AMD genotype and both the phenotype and severity of AMD...
  31. doi Late histological and functional changes in the P23H rat retina after photoreceptor loss
    Bogdan Kolomiets
    INSERM, UMR_S968, Institut de la Vision, F 75012, Paris
    Neurobiol Dis 38:47-58. 2010
    ....
  32. doi [23-gauge transconjunctival sutureless vitrectomy: a retrospective study of 164 consecutive cases]
    N de Preobrajensky
    CHNO des Quinze vingt, 28, rue de Charenton, Paris, France
    J Fr Ophtalmol 33:99-104. 2010
    ..To describe our initial experience and to evaluate the outcomes of patients treated with 23-gauge transconjunctival sutureless vitrectomy for a variety of vitreoretinal conditions...
  33. doi Baseline characteristics of participants in the natural history study of macular telangiectasia (MacTel) MacTel Project Report No. 2
    Traci E Clemons
    The EMMES Corporation, Rockville, MD 20850, USA
    Ophthalmic Epidemiol 17:66-73. 2010
    ....
  34. pmc Taurine deficiency damages photoreceptors and retinal ganglion cells in vigabatrin-treated neonatal rats
    Firas Jammoul
    INSERM, UMR_S968, Institut de la Vision, Paris, France UPMC Univ Paris 06, UMR_S968, Institut de la Vision, Paris, France
    Mol Cell Neurosci 43:414-21. 2010
    ..These results provide the first evidence of retinal ganglion cell neuroprotection by taurine. They further confirm that taurine supplementation should be administered with the vigabatrin treatment for infantile spasms or epilepsy...
  35. pmc The disruption of the rod-derived cone viability gene leads to photoreceptor dysfunction and susceptibility to oxidative stress
    T Cronin
    Department of Genetics, Institut de la Vision, INSERM, UPMC Univ Paris 06, UMR S 968, CNRS 7210, Paris, France
    Cell Death Differ 17:1199-210. 2010
    ..We show here that the RdCVF gene, in addition to therapeutic properties, has an essential role in photoreceptor maintenance and resistance to retinal oxidative stress...
  36. pmc Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
    Isabelle Audo
    INSERM, U968, Paris, F 75012, France
    Orphanet J Rare Dis 7:8. 2012
    ..However, these methods are time consuming, expensive and unable to provide a result if the patient carries a new gene mutation. In addition, multiplicity of phenotypes associated with the same gene defect may be overlooked...
  37. pmc Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
    Crystel Bonnet
    Unite de Genetique Medicale, INSERM UMRS 587, Hopital d Enfants Armand Trousseau, Assistance Publique Hopitaux de Paris, Paris, France
    Orphanet J Rare Dis 6:21. 2011
    ..Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool...
  38. doi Gene therapy for blindness
    Jose Alain Sahel
    INSERM UMR_S 968, UPMC, University of Paris 06, Institut de la Vision, Paris, France
    Annu Rev Neurosci 36:467-88. 2013
    ..We conjecture that advances in gene therapy in the retina will pave the way for gene therapies in other parts of the brain. ..