Publications by authors named "Isabelle Audo"

100Publications

The genetics of rod-cone dystrophy in Arab countries: a systematic review.

Eur J Hum Genet 2020 Nov 13. Epub 2020 Nov 13.

Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, 1107 2809, Lebanon.

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http://dx.doi.org/10.1038/s41431-020-00754-0DOI Listing
November 2020

Subjective visual vertical in patients with Usher syndrome.

J Vestib Res 2020 ;30(4):275-282

EFEE - Center for children balance disorders evaluation. ENT Departement, Robert Debré Universitary Hospital , 48, Bld Sérurier, 75019 Paris, France.

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http://dx.doi.org/10.3233/VES-200711DOI Listing
January 2020

DEEP-PHENOTYPING AND FURTHER INSIGHTS IN ITM2B-RELATED RETINAL DYSTROPHY.

Retina 2020 Aug 18. Epub 2020 Aug 18.

Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, F-75012 Paris, France.

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http://dx.doi.org/10.1097/IAE.0000000000002953DOI Listing
August 2020

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.

Am J Ophthalmol 2020 11 22;219:87-100. Epub 2020 May 22.

Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ajo.2020.05.024DOI Listing
November 2020

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report.

BMC Ophthalmol 2020 Feb 21;20(1):59. Epub 2020 Feb 21.

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Maladies Rares "dystrophies rétiniennes d'origine génétique", DHU Sight Restore INSERM-DHOS CIC 1423, 28, rue de Charenton, 75012, Paris, France.

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http://dx.doi.org/10.1186/s12886-020-01341-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035659PMC
February 2020

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.

Genes (Basel) 2019 12 16;10(12). Epub 2019 Dec 16.

Rammal Hassan Rammal Research Laboratory, Physiotoxicity (PhyTox), Faculty of Sciences, Lebanese University, Nabatieh 1700, Lebanon.

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http://dx.doi.org/10.3390/genes10121047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947157PMC
December 2019

Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease.

Invest Ophthalmol Vis Sci 2019 12;60(15):4951-4957

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientfique, Institut de la Vision, Paris, France.

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http://dx.doi.org/10.1167/iovs.19-27100DOI Listing
December 2019

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother.

Stem Cell Res 2019 12 5;41:101625. Epub 2019 Nov 5.

INSERM, CNRS, Institut de la Vision, Sorbonne Université, 17 rue Moreau, Paris, F-75012, France; CHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, 28 rue de Charenton, Paris, F-75012, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101625DOI Listing
December 2019

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.

Am J Ophthalmol 2019 12 26;208:429-437. Epub 2019 Aug 26.

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Maladies Rares "dystrophies rétiniennes d'origine génétique," Département hospitalo-universitaire Sight Restore, Institut National de la Santé et de la Recherche Médicale, DHOS Centre d'Investigation Clinique 1423, Paris, France; Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France.

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http://dx.doi.org/10.1016/j.ajo.2019.08.011DOI Listing
December 2019

Postural Instability in Subjects With Usher Syndrome.

Front Neurol 2019 8;10:830. Epub 2019 Aug 8.

UMR 1141 Inserm, Robert Debré Hospital, Université de Paris, Paris, France.

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http://dx.doi.org/10.3389/fneur.2019.00830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694594PMC
August 2019

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.

Mol Vis 2019 13;25:373-381. Epub 2019 Jul 13.

Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, Université des Sciences de Technologies et de médecine (USTM), Nouakchott, Mauritanie.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639433PMC
April 2020

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Doc Ophthalmol 2019 10 2;139(2):151-160. Epub 2019 Jul 2.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s10633-019-09704-8DOI Listing
October 2019

Neoplasia and intraocular inflammation: From masquerade syndromes to immunotherapy-induced uveitis.

Prog Retin Eye Res 2019 09 12;72:100761. Epub 2019 May 12.

Ophthalmology Department, DHU Sight Restore, Pitié Salpêtrière University Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2019.05.002DOI Listing
September 2019

Novel Missense Mutations in Are Associated with Bestrophinopathies in Lebanese Patients.

Genes (Basel) 2019 02 18;10(2). Epub 2019 Feb 18.

Rammal Hassan Rammal Research Laboratory, PhyToxE research group, Department of Life and Earth Sciences, Faculty of Sciences, Lebanese University, Nabatieh 1700, Lebanon.

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http://dx.doi.org/10.3390/genes10020151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409913PMC
February 2019

A novel missense mutation of causes congenital cataract in a large Mauritanian family.

Eur J Ophthalmol 2019 Nov 29;29(6):621-628. Epub 2018 Oct 29.

Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, Université des Sciences de Technologies et de médecine (USTM), Nouakchott, Mauritanie.

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http://dx.doi.org/10.1177/1120672118804757DOI Listing
November 2019

Usher Syndrome and Color Vision.

Curr Eye Res 2018 10 30;43(10):1295-1301. Epub 2018 Jul 30.

a Centre for Ophthalmology, Institute for Ophthalmic Research , University of Tuebingen , Tuebingen , Germany.

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http://dx.doi.org/10.1080/02713683.2018.1501804DOI Listing
October 2018

A Novel Heterozygous Missense Mutation in Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

Biomed Res Int 2018 23;2018:7694801. Epub 2018 Apr 23.

Department of Ophthalmology and Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, USA.

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http://dx.doi.org/10.1155/2018/7694801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937575PMC
October 2018

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.

Ophthalmology 2018 10 5;125(10):1587-1596. Epub 2018 May 5.

Centre de Maladies Rares "Dystrophies Rétiniennes d'Origine Génétique," DHU Sight Restore INSERM-DHOS CIC 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2018.03.057DOI Listing
October 2018

MERTK mutation update in inherited retinal diseases.

Hum Mutat 2018 07 23;39(7):887-913. Epub 2018 May 23.

Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

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http://dx.doi.org/10.1002/humu.23431DOI Listing
July 2018

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

Sci Rep 2018 04 4;8(1):5665. Epub 2018 Apr 4.

Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, F-75012, Paris, France.

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http://dx.doi.org/10.1038/s41598-018-23919-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884771PMC
April 2018

Retinal findings in a patient of French ancestry with CABP4-related retinal disease.

Doc Ophthalmol 2018 04 10;136(2):135-143. Epub 2018 Mar 10.

Exploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital, Rue Emilie Laine, 59037, Lille Cedex, France.

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http://dx.doi.org/10.1007/s10633-018-9629-yDOI Listing
April 2018

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.

Retina 2019 May;39(5):867-878

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHUSight Restore, INSERM-DGOS CIC 1423, Paris, France.

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http://dx.doi.org/10.1097/IAE.0000000000002041DOI Listing
May 2019

Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.

Stem Cell Res 2017 12 7;25:26-29. Epub 2017 Oct 7.

Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.10.007DOI Listing
December 2017

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

Stem Cell Res 2017 10 5;24:1-4. Epub 2017 Aug 5.

Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S968, CNRS UMR7210, 75012 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.08.003DOI Listing
October 2017

Electrophysiological features and multimodal imaging in ritonavir-related maculopathy.

Doc Ophthalmol 2017 12 12;135(3):241-248. Epub 2017 Sep 12.

Unité d'électrophysiologie, Centre hospitalier national d'ophtalmologie des Quinze-Vingts, 28, rue de Charenton, 75571, Paris, France.

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http://link.springer.com/10.1007/s10633-017-9612-z
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http://dx.doi.org/10.1007/s10633-017-9612-zDOI Listing
December 2017

RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME.

Retin Cases Brief Rep 2019 ;13(4):295-299

Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est, Creteil, France.

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http://dx.doi.org/10.1097/ICB.0000000000000594DOI Listing
March 2020

Retinitis Pigmentosa and Other Dystrophies.

Dev Ophthalmol 2017 28;58:191-201. Epub 2017 Mar 28.

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http://dx.doi.org/10.1159/000455281DOI Listing
August 2017

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults.

Am J Ophthalmol 2017 May 22;177:169-174. Epub 2017 Feb 22.

CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France; Sorbonne Universités, UPMC Univ Paris 06 UMR S968, INSERM U 968, CNRS, UMR_7210, Institut de la Vision, Paris, France.

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http://dx.doi.org/10.1016/j.ajo.2017.02.016DOI Listing
May 2017

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Ophthalmology 2016 10 26;123(10):2196-204. Epub 2016 Jul 26.

Institute for Neurosciences of Montpellier U1051, University of Montpellier - University Hospital, Genetics of Sensory Diseases, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.06.028DOI Listing
October 2016

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Am J Hum Genet 2016 05 7;98(5):1011-1019. Epub 2016 Apr 7.

Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Ophthalmology, University of Toronto, 340 College Street, Toronto, ON M5T 3A9, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867910PMC
May 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy.

Graefes Arch Clin Exp Ophthalmol 2016 May 7;254(5):855-64. Epub 2015 Sep 7.

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU View Maintain, INSERM-DHOS CIC 1423, Paris, 75012, France.

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http://dx.doi.org/10.1007/s00417-015-3136-6DOI Listing
May 2016

Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.

Am J Ophthalmol 2015 Nov 15;160(5):1065-1072.e1. Epub 2015 Aug 15.

Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Cochin-Hôtel-Dieu, Service d'ophtalmologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00029394150050
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http://dx.doi.org/10.1016/j.ajo.2015.08.012DOI Listing
November 2015

Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa.

Ophthalmic Res 2015 29;54(2):78-84. Epub 2015 Jul 29.

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, Paris, France.

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http://dx.doi.org/10.1159/000435886DOI Listing
March 2016

Genotypic and phenotypic characterization of P23H line 1 rat model.

PLoS One 2015 26;10(5):e0127319. Epub 2015 May 26.

INSERM, U968, Paris, France; CNRS, UMR_7210, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, Paris, France; Institute of Ophthalmology, University College of London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127319PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444340PMC
April 2016

Aripiprazole-induced chorioretinopathy: multimodal imaging and electrophysiological features.

Doc Ophthalmol 2015 Aug 20;131(1):35-41. Epub 2015 Mar 20.

Ophtalmologie, Hôpital Privé Saint Martin, 18 rue des Roquemonts, 14000, Caen, France,

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http://link.springer.com/content/pdf/10.1007/s10633-015-9494
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http://link.springer.com/10.1007/s10633-015-9494-x
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http://dx.doi.org/10.1007/s10633-015-9494-xDOI Listing
August 2015

Cone dystrophy in patient with homozygous RP1L1 mutation.

Biomed Res Int 2015 29;2015:545243. Epub 2015 Jan 29.

Department of Ophthalmology, Nippon Medical School, Bunkyo-ku, Tokyo 113-8602, Japan.

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http://dx.doi.org/10.1155/2015/545243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322316PMC
November 2015

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

Biomed Res Int 2015 6;2015:485624. Epub 2015 Jan 6.

INSERM, U968, 75012 Paris, France ; Sorbonne Universités, UPMC University, Paris 06, UMR_S 968, Institut de la Vision, 75012 Paris, France ; CNRS, UMR_7210, 75012 Paris, France.

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http://dx.doi.org/10.1155/2015/485624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307388PMC
November 2015

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.

Prog Retin Eye Res 2015 Jul 11;47:64-85. Epub 2015 Feb 11.

Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S13509462150000
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http://dx.doi.org/10.1016/j.preteyeres.2015.02.001DOI Listing
July 2015

Clinical characteristics and current therapies for inherited retinal degenerations.

Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. Epub 2014 Oct 16.

Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Paris, F-75012, France INSERM, U968, Paris, F-75012, France CNRS, UMR 7210, Paris, F-75012, France Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, Paris, F-75012, France Institute of Ophthalmology-University College London, London EC1V 9EL, United Kingdom.

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http://dx.doi.org/10.1101/cshperspect.a017111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315917PMC
October 2014

Retinal toxicity after intracameral use of a standard dose of cefuroxime during cataract surgery.

Doc Ophthalmol 2015 Feb 16;130(1):57-63. Epub 2014 Oct 16.

Fondation Ophtalmologique Adolphe de Rothschild, 25 rue Manin, 75019, Paris, France,

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http://dx.doi.org/10.1007/s10633-014-9465-7DOI Listing
February 2015

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Prog Retin Eye Res 2015 Mar 13;45:58-110. Epub 2014 Oct 13.

INSERM, US968, Paris, F-75012, France; CNRS, UMR_7210, Paris, F-75012, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris, F-75012, France; Institute of Ophthalmology, University College London, London, EC1V 9EL, UK; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, Paris, F-75012, France.

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http://dx.doi.org/10.1016/j.preteyeres.2014.09.001DOI Listing
March 2015

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

Ophthalmology 2014 Dec 29;121(12):2406-14. Epub 2014 Jul 29.

Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, Montpellier, France; Montpellier University, Montpellier, France; Institute for Neurosciences, INSERM, Montpellier, France.

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http://dx.doi.org/10.1016/j.ophtha.2014.06.028DOI Listing
December 2014

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.

Biochim Biophys Acta 2014 Aug 4;1838(8):2053-65. Epub 2014 May 4.

Medical University Vienna, Center for Physiology and Pharmacology, Department of Neurophysiology and -pharmacology, Schwarzspanierstrasse 17, 1090 Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.bbamem.2014.04.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065569PMC
August 2014

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Mol Vis 2014 21;20:341-51. Epub 2014 Mar 21.

SNONGC department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962728PMC
September 2014

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

Am J Hum Genet 2014 Apr 27;94(4):625-33. Epub 2014 Mar 27.

Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France; Centre National de la Recherche Scientifique UMR_7210, Paris 75012, France; Institut de la Vision UMR_S 968, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, Paris 75012, France; Institut National de la Santé et de la Recherche Médicale and Direction de l'Hospitalisation et de l'Organisation des Soins Centre d'Investigation Clinique 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris 75012, France; University College London Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980423PMC
April 2014

Functional and high resolution retinal imaging assessment in a case of ocular siderosis.

Doc Ophthalmol 2014 Feb 13;128(1):69-75. Epub 2013 Dec 13.

Fondation ophtalmologique Adolphe de Rothschild, 25 rue Manin, 75019, Paris, France,

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http://dx.doi.org/10.1007/s10633-013-9421-yDOI Listing
February 2014

[Ocular toxicity of drugs].

Authors:
Isabelle Audo

Rev Prat 2013 Jan;63(1):63-7

Département de génétique, centre de recherche Institut de la vision, UMR S 968 Inserm, UMR-7210, université Pierre-et-Marie-Curie Paris-6, France.

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January 2013

Seven new loci associated with age-related macular degeneration.

Authors:
Lars G Fritsche Wei Chen Matthew Schu Brian L Yaspan Yi Yu Gudmar Thorleifsson Donald J Zack Satoshi Arakawa Valentina Cipriani Stephan Ripke Robert P Igo Gabriëlle H S Buitendijk Xueling Sim Daniel E Weeks Robyn H Guymer Joanna E Merriam Peter J Francis Gregory Hannum Anita Agarwal Ana Maria Armbrecht Isabelle Audo Tin Aung Gaetano R Barile Mustapha Benchaboune Alan C Bird Paul N Bishop Kari E Branham Matthew Brooks Alexander J Brucker William H Cade Melinda S Cain Peter A Campochiaro Chi-Chao Chan Ching-Yu Cheng Emily Y Chew Kimberly A Chin Itay Chowers David G Clayton Radu Cojocaru Yvette P Conley Belinda K Cornes Mark J Daly Baljean Dhillon Albert O Edwards Evangelos Evangelou Jesen Fagerness Henry A Ferreyra James S Friedman Asbjorg Geirsdottir Ronnie J George Christian Gieger Neel Gupta Stephanie A Hagstrom Simon P Harding Christos Haritoglou John R Heckenlively Frank G Holz Guy Hughes John P A Ioannidis Tatsuro Ishibashi Peronne Joseph Gyungah Jun Yoichiro Kamatani Nicholas Katsanis Claudia N Keilhauer Jane C Khan Ivana K Kim Yutaka Kiyohara Barbara E K Klein Ronald Klein Jaclyn L Kovach Igor Kozak Clara J Lee Kristine E Lee Peter Lichtner Andrew J Lotery Thomas Meitinger Paul Mitchell Saddek Mohand-Saïd Anthony T Moore Denise J Morgan Margaux A Morrison Chelsea E Myers Adam C Naj Yusuke Nakamura Yukinori Okada Anton Orlin M Carolina Ortube Mohammad I Othman Chris Pappas Kyu Hyung Park Gayle J T Pauer Neal S Peachey Olivier Poch Rinki Ratna Priya Robyn Reynolds Andrea J Richardson Raymond Ripp Guenther Rudolph Euijung Ryu José-Alain Sahel Debra A Schaumberg Hendrik P N Scholl Stephen G Schwartz William K Scott Humma Shahid Haraldur Sigurdsson Giuliana Silvestri Theru A Sivakumaran R Theodore Smith Lucia Sobrin Eric H Souied Dwight E Stambolian Hreinn Stefansson Gwen M Sturgill-Short Atsushi Takahashi Nirubol Tosakulwong Barbara J Truitt Evangelia E Tsironi André G Uitterlinden Cornelia M van Duijn Lingam Vijaya Johannes R Vingerling Eranga N Vithana Andrew R Webster H-Erich Wichmann Thomas W Winkler Tien Y Wong Alan F Wright Diana Zelenika Ming Zhang Ling Zhao Kang Zhang Michael L Klein Gregory S Hageman G Mark Lathrop Kari Stefansson Rando Allikmets Paul N Baird Michael B Gorin Jie Jin Wang Caroline C W Klaver Johanna M Seddon Margaret A Pericak-Vance Sudha K Iyengar John R W Yates Anand Swaroop Bernhard H F Weber Michiaki Kubo Margaret M Deangelis Thierry Léveillard Unnur Thorsteinsdottir Jonathan L Haines Lindsay A Farrer Iris M Heid Gonçalo R Abecasis

Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.

Institute of Human Genetics, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013