• Echographie oculaire
  • Electrophysiologie, explorations fonctionnelles, consultations basse vision
  • Glaucome chirurgical ou médical
Site web http://www.bassevision.net - http://www.ophtalmo.net/bv/PRO/lab.html - http://www.ophtalmo.net/bv/CERBV/cerbv.html
Téléphone & fax
  • 02 51 83 07 17
  • 02 51 83 07 16
Adresse 3 place Anatole France
44000 Nantes
  • Docteur en Médecine, spécialité ophtalmologie
  • Ancien interne des Hôpitaux de Lille
  • DU Neuro-ophtalmologie
  • DU Strabologie
  • DU Expertise
  • DU Maladies héréditaires et dégénératives de la rétine et du nerf optique


Membre de
  • SFO (Société Française d’Ophtalmologie)
  • ISCEV (International Society for Clinical Electrophysiology of Vision)
  • ARVO (Association for Research in Vision and Ophtalmology)
  • SFG (Société Française du Glaucome)
  • Club d’Ophtalmologie Pédiatrie
  • SFOP (Société Française d’Optique Physiologique)
  • ARIBA (Association Représentative des Initiatives en Basse Vision
  • ANFOC (Association Nantaise de Formation Ophtalmologique Continue)
  • SFOALC (Société Française des Ophtalmologistes Adaptateurs de Lentilles de Contact)
  • SEVE (Société d’Explorations Visuelles et d’Electrophysiologie)
  • CNOF (Club de Neuro Ophtalmologie Francophone)
  • SGOF (Société de Génétique Ophtalmologique Francophone)
  • Publications 2013 :
  • JAMA Ophthalmol. 2013 Aug 8. doi: 10.1001/jamaophthalmol.2013.4476. [Epub ahead of print]
    Early-Onset Foveal Involvement in Retinitis Punctata Albescens With Mutations in RLBP1.
    Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP.
    Genetics of Sensory Diseases, Centre Hospitalier Régional Universitaire de Montpellier, Montpellier, France.
    IMPORTANCE Retinitis punctata albescens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in the fundus, in most cases caused by mutations in RLBP1. OBJECTIVE To study disease progression and visual function in RPA. DESIGN We performed clinical and molecular investigations in patients with RPA at various ages, from November 5, 2003, through June 20, 2012, with no planned patient follow-up. SETTING The National Reference Center for Genetic Sensory Diseases (Montpellier). PARTICIPANTS Eleven patients with RPA (mean age, 24 [range, 3-39] years) from 7 families and 11 control subjects undergoing evaluation. EXPOSURE Optical coherence tomography measurements. MAIN OUTCOMES AND MEASURES Screening for mutations by polymerase chain reaction sequencing of the 9 RLBP1 exons. Patients underwent standard ophthalmic examination, fundus imaging, autofluorescence testing, Goldmann visual field measurement, optical coherence tomography, adaptive optics-based infrared fundus ophthalmoscopy, dark adaptometry, and electroretinography. RESULTS We found 2 novel RLBP1 mutations (p.Tyr111X and p.Arg9Cys), and 8 patients from Morocco were homozygous for the recurrent 7.36-kilobase RLBP1 deletion of exons 7 through 9. All patients had night blindness (before age 6 years in 10). The dotlike deposits were generally dense but could be rare, appearing in adaptive optics as elongated structures with variable orientation and no foveal involvement. We found no specific refractive error, and visual acuity varied widely from normal (1.2) to counting fingers. Variable degrees of visual field impairment were present, and all patients had severely decreased electroretinographic responses with predominant rod impairment. No correlation between visual acuity (P = .27) or visual field and age (P = .08) was present. On optical coherence tomography, the mean (SD) central foveal (122 [23] vs 187 [30] µm in controls) and foveal (147 [19] vs 217 [17] µm) thicknesses were significantly (P < .01) decreased, independently of age, whereas the retinal thickness at the 3- and 6-mm rings around the fovea progressively decreased with age. Mean (SD) cone number was normal in 1 patient aged 13 years (21 000/mm2 [2000/mm2]) but dropped to 10 500/mm2 (5244/mm2), 8667/mm2 (2944/mm2), and 5833/mm2 (983/mm2) in 3 other patients aged 39, 32, and 29 years, respectively. CONCLUSIONS AND RELEVANCE Patients with RPA show variable degrees of foveal cone death, even at an early stage. This finding has implications for future treatment.
  • Publications 2012 :
  • Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness.
    Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I.
    Am J Hum Genet. 2012 Dec 11. doi:pii: S0002-9297(12)00584-8. 10.1016/j.ajhg.2012.10.023.
  • Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
    Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM.Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29.
  • Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
    Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C.
    Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.
  • Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
    Delphin N, Hanein S, Taie LF, Zanlonghi X, Bonneau D, Moisan JP, Boyle C, Nitschke P, Pruvost S, Bonnefont JP, Munnich A, Roche O, Kaplan J, Rozet JM.
    Eur J Hum Genet. 2012 Mar;20(3):352-6. doi: 10.1038/ejhg.2011.217. Epub 2011 Nov 30.
  • Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
    Ghoumid J, Andrieux J, Sablonnière B, Odent S, Philippe N, Zanlonghi X, Saugier-Veber P, Bardyn T, Manouvrier-Hanu S, Holder-Espinasse M.
    Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8.
  • Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy.
    Lamirel C, Cassereau J, Cochereau I, Vignal-Clermont C, Pajot O, Tanguy JY, Zanlonghi X, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C.
    J Neurol Neurosurg Psychiatry. 2010 May;81(5):578-80. doi: 10.1136/jnnp.2009.174953.
  • Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
    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.
    Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.
  • Du signe clinique au diagnostic, imagerie et exploration de la vision, Rapport Annuel 2012 BSOF (Bulletin des Sociétés d’Optalmologie de France)
    Champ visuel de l’adulte (Chapitre I, A, III-1)
    Champ visuel de l’enfant (Chapitre I, A, III-2)
    Electrorétinogramme multifocal (Chapitre I, A, V-3)
    Vision des couleurs (Chapitre I, A, VI-1)
    Electro-oculogramme (Chapitre I, A, VI-2)
    Vision des contrastes (Chapitre I, A, VI-3)
    Héméralopie (Chapitre II, A, III-2)
    Photophobie (Chapitre II, A, III-3)
    Démarches diagnostique devant une atteinte du
    champ visuel (Chapitre II, C)
  • Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies
    Isabelle Meunier, Carl Arndt, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Isabelle Drumare, Martine Mauget-Faysse, Benjamin Wolff, Aude Affortit, Christian Hamel and Bernard Puech