Session Detail


Session Number: 287
Session Title: Genetics I /
Session Type: Poster Session
Session Start: Monday, May 02, 2011, 3:45 PM - 5:30 PM
Location: Hall B/C
Organizing Section: Genetics Group
Contributing Sections: Retinal Cell Biology, Retina+,
Program #/Board #: 2351-2401/D614-D664
Moderator-- Anand Swaroop. N-NRL, Bldg 6, National Eye Institute, Bethesda, MD.
Moderator-- Sanjoy K. Bhattacharya. Bascom Palmer Eye Institute, Univ of Miami Miller Sch of Med, Miami, FL.
Presentations:
Monday, May 02, 2011, 3:45 PM - 5:30 PM
2351/ D614. Development of Genetic Tools to Study Anterior Segment Dysgenesis
Jonathan M. Skarie1,2, Brian A. Link1. 1Cell Biol/Neurobiol & Anatomy, Medical College of Wisconsin, Milwaukee, WI; 2Transitional Residency, Aurora St. Luke's Medical Center, Milwaukee, WI.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2352/ D615. High-throughput Mouse Eye Phenotyping Reveals Novel Disease Pathways
MaryAnn Mahajan1,2, Stephen H. Tsang3, Jacqui K. White4, Amir H. Assefnia2, K.C. Kent Lloyd5, Ramiro Ramirez-Solis4, Vinit B. Mahajan1. 1Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA; 2Omics Laboratory, University of Iowa, IA; 3Columbia Coll Phys Surg, Columbia Univ-Harkness Eye Inst, New York, NY; 4The Sanger Mouse Genetics Programme, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom; 5School of Veterinary Medicine, Mouse Biology Program, Center for Comparative Medicine, University of California, CA.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2353/ D616. Abnormal Ciliary Zonule Formation In Ltbp2 Knockout Mice
Tomoya O. Akama1,2, Tadashi Inoue1, Tetsuya Ohbayashi3, Masahito Horiguchi4, Kanji Takahashi1, Tomoyuki Nakamura1. 1Kansai Medical University, Osaka, Japan; 2Sanford-Burnham Medical Research Institute, La Jolla, CA; 3Tottori University, Tottori, Japan; 4New York University, New York, NY.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2354/ D617. Retrotransposon-based Transgenesis in Zebrafish
Shunichi Yoshikawa, Xinping C. Zhao. Ophthalmology, University of Texas, Houston, TX.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2355/ D618. Choroid Fissure Closure and Colobomas in Zebrafish
Jeffrey M. Gross, Chanjae Lee. Molecular Cell & Developmental Biology, University of Texas at Austin, Austin, TX.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2356/ D619. Defects in Optic Nerve Glia and in the Lens During Embryonic Development May Cause Persistent Fetal Vasculature (PFV) Disease
Stacey L. Hose1, Laura Asnaghi1, Cheng Zhang1, Marisol Cano1, Morton F. Goldberg1, Charles G. Eberhart1, Eric F. Wawrousek2, J. S. Zigler, Jr.1, Debasish Sinha1. 1Ophthalmology, Johns Hopkins Wilmer Eye Inst, Baltimore, MD; 2Lab of Molecular & Dev Bio, National Eye Inst/NIH, Rockville, MD.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2357/ D620. Nitisinone (NTBC) Improves Ocular and Skin Pigmentation Defects In a Mouse Model of Oculocutaneous Albinism
Ighovie F. Onojafe1, David R. Adams2, Jun Zhang3A, Chi-Chao Chan3B, Isa M. Bernardini3C, Yuri V. Sergeev3D, Monika B. Dolinska3D, William A. Gahl3C, Brian P. Brooks3D. 1NIH, NEI, Bldg. 10-10B11/17, Priority One Services, Inc., Bethesda, MD; 2NHGRI, NIH., Bethesda, MD; ASection of immunopathology, NEI, BNIH, NEI, Bldg. 10-10B11/17, CNHGRI, DOGVFB, 3NIH, Bethesda, MD.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2358/ D621. Mouse Tyrosinase And Causing Oculocutaneous Albinism Type1 Missense Variants R77L And H420R: Effect Of Tyrosine On Protein Stability
Monika B. Dolinska, Yuri V. Sergeev, Ighovie F. Onojafe, Brian P. Brooks. OGVFB, National Eye Institute, Bethesda, MD.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2359/ D622. Clinical Ophthalmological Characterization of the Canine Model of Mucopolysaccharidosis Type I
Gil Ben-Shlomo1A, R D. Whitley1A, Jackie K. Jens1B, Patricia I. Dickson2, N M. Ellinwood1C. AVeterinary Clinical Sciences, BAnimal Science, CVeterinary Clinical Sciences and Animal Science, 1Iowa State University, Ames, IA; 2Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2360/ D623. Development of a Humanized Mouse Model for X-linked Retinitis Pigmentosa caused by a Point Mutation in the Rpgr Gene
Jutta U. Hosch1A, Stefan Günther2, Thomas Braun2, Alfred M. Pingoud1B, Eveline Baumgart-Vogt1C, Birgit Lorenz1A, Knut Stieger1A. ADepartment of Ophthalmology, BDepartment of Biochemistry, CInstitute of Anatomy and Cell Biology, 1Justus-Liebig-University Giessen, Giessen, Germany; 2Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2361/ D624. Conditional Ablation of Retinal Elovl4 Reveals a Key Role in Synthesis of VLC-PUFAs and Photoreceptor Light Responses
Peter Barabas1, Aihua Liu1, Wei Xing1, ZongZhong Tong1, Yun-Zheng Le2, Robert Anderson2, Kang Zhang1, Paul S. Bernstein1, David Krizaj1. 1Department of Ophthalmology, University of Utah, Salt Lake City, UT; 2Medicine, Univ of Oklahoma Hlth Sci Ctr, Oklahoma City, OK.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2362/ D625. A New Mouse Model Of A Late Onset Retinal Degeneration
Bo Chang1, Rivka A. Rachel2, Jieping Wang1, Ron E. Hurd1, Anand Swaroop2. 1The Jackson Laboratory, Bar Harbor, ME; 2N-NRL, Bldg 6, National Eye Institute, Bethesda, MD.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2363/ D626. Differing Pathologies of Two Mouse Models of Leber Congenital Amaurosis, Type 2 (LCA2)
Charles B. Wright1, Micah A. Chrenek1, Jeffrey H. Boatright2, John M. Nickerson1. 1Ophthalmology, Emory University, Atlanta, GA; 2Ophthalmology, Emory University School of Med, Atlanta, GA.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2364/ D627. Immunohistochemical Characterization of the Retina and the Outer Plexiform Layer (OPL) in Briard Dogs with RPE65 Deficiency
Knut Stieger1, Daniela Klein1, Alexandra Mendes-Madeira2, Birgit Lorenz1, Fabienne Rolling2, Silke Haverkamp3. 1Department of Ophthalmology, Justus-Liebig-University Giessen, Giessen, Germany; 2INSERM U649, University of Nantes, Nantes, France; 3Max Planck Institute for Brain Research, Frankfurt, Germany.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2365/ D628. Unique Functions of CEP290 Domains in Retinal Degeneration
Alice N. Hackett1A, Rivka Rachel1A, Lijin Dong1B, Anand Swaroop1A. ANeurobiol-Neurodegen & Repair Lab, BGenetic Engineering Facility, 1NEI, Bethesda, MD.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2366/ D629. The Function Of Müller Glia In Usher Syndrome Pathology
Jennifer B. Phillips1A, Sabrina Toro1B, Monte Westerfield1A. AInst of Neuroscience, BInstitute of Neuroscience, 1University of Oregon, Eugene, OR.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2367/ D630. OPA1 Mutation Induces NMDA Receptor Activation, Mitochondrial Fission and RGC Death in the Mouse Retina
DUY H. NGUYEN1, Keun-Young Kim2, Guy A. Perkins2, Marcel V. Alavi3, Robert N. Weinreb1, Won-Kyu Ju1. 1Hamilton Glaucoma Center, Univ of California-San Diego, La Jolla, CA; 2Neuroscience, Center for Research on Biological Systems, National Center for Microscopy and Imaging Research, University of California San Diego, La Jolla, CA, La Jolla, CA; 3Institut fuer Zoologie, Abt. I, Johannes-Gutenberg Universitaet, Mainz, Germany.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2368/ D631. Evaluation Of A Transgenic Mouse Model Of Multiple Sclerosis With Non Invasive Methods
Di Ding1A, Mabel E. Algeciras2, Tsung-Han Chou3, Jianhua Wang4, Kyle R. Padgett1B, Vittorio Porciatti1A, Sanjoy K. Bhattacharya5. AOphthalmology, BDepartment of Radiology, 1University of Miami, Miami, FL; 2Ophthalmology, University of Miami/Bascom Palmer, Miami, FL; 3Bascom Palmer Eye Inst, University of Miami, Miller Sch of Med, Miami, FL; 4Ophthalmology, Bascom Palmer Eye Inst Lib, Miami, FL; 5Bascom Palmer Eye Institute, University of Miami Miller Sch of Med, Miami, FL.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2369/ D632. Inhibition of Retinal Vascular Development and Vascular Leakage in Pdgfb-iCreERT2Flk1loxP Mice
Tomohito Sato1A, James A. Stefater, III2, Sujata Rao2, Jieqing Fan2, Yoko karasawa1A, Masataka Ito1B, Masaru Takeuchi1A, Marcus Fruttiger3, Thomas N. Sato4, Richard A. Lang2. AOphthalmology, BDevelopmental Anatomy and Regenerative Biology, 1National Defense Medical Collage, Tokorozawa, Japan; 2Pediatric Ophthalmology and Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH; 3Ophthalmology, University College London, London, United Kingdom; 4Biological Sciences, Nara Institute of Science and Technology, Ikoma, Japan.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2370/ D633. Clinical Characteristics Of A Large Choroideremia Pedigree Carrying A Novel CHM Mutation
Alex Huang, Leo Kim, Amani A. Fawzi. Ophthalmology, Doheny Eye Institute, Los Angeles, CA.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2371/ D634. Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families
Kinga M. Bujakowska1, Isabelle Audo1,2, Saddek Mohand-Saïd1,2, Birgit S. Budde3, Marie-Elise Lancelot1, Christine Lonjou4, Wassila Carpentier4, José-Alain Sahel1,5, Shomi S. Bhattacharya1,6, Christina Zeitz1. 1Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France; 2Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, F-75012, France; 3Cologne Center for Genomics, University of Cologne, Cologne, Germany; 4Plate-forme Post-Génomique P3S, Hôpital Pitié-Salpêtrière, Paris, France; 5Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503; Université Pierre et Marie Curie Fondation Ophtalmologique Adolphe de Rothschild, Paris, France; 6Department of Molecular Genetics, Institute of Ophthalmology, UCL, Paris, United Kingdom.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2372/ D635. Phenotype of two Consanguineous Autosomic Recessive Retinitis Pigmentosa Families Caused by PDE6A and PDE6B Mutations
Leila Largueche1,2, Karim Baklouti3, Ahlem Merdassi1, Ibtissem Chouchane1,2, Mejda Bouladi1, Isabelle Favre4, Hasret Bajrami4, Daniel F. Schorderet4, Francis L. Munier5, Leila El Matri1,2. 1Hedi Rais Inst of Ophthalmology, Tunis, Tunisia; 2Oculogenetics unit, UR 17/04, Tunis, Tunisia; 3Ophthalmology, CHU, Nabeul, Tunisia; 4Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland; 5Ophthalmology Department, Jules-Gonin Eye Hospital, Lausanne, Switzerland.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2373/ D636. Genome-wide Homozygosity Mapping With SNP Microarrays Identifies The Crumbs Homologue 1 (CRB1) Gene As Responsible For A Recessive Syndrome Of Retinitis Pigmentosa And Nanophthalmos
Raul Ayala Ramirez1, Beatriz Buentello-Volante1, Cristina Villanueva-Mendoza2, Juan Carlos Zenteno1. 1Department of Genetics-Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico, Mexico; 2Department of Genetics, Asociación Para Evitar la Ceguera en México, Mexico, Mexico.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2374/ D637. A Novel Homozygous R764H Mutation in CRB1 Causes Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Family
Leila Bouayed-Tiab1, Leila Largueche2, Ibtissem Chouchane2, Kaouthar Derouiche2, Hasret Bajrami1, Isabelle Favre1, Francis L. Munier3, Leila El Matri2, Daniel F. Schorderet1. 1Institute of Ophthalmology, Inst Recherche Ophthalmologie, Sion, Switzerland; 2Oculogenetic unit (UR 17/04), Hedi Rais Institute of Ophthalmology, Tunis, Tunisia; 3Ophthalmology Department, Jules-Gonin Eye Hospital, Lausanne, Switzerland.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2375/ D638. Mutations In BBS1 Cause Mild Bardet-Biedl Syndrome And Nonsyndromic Retinal Dystrophy
Alejandro Estrada Cuzcano1A, Robert K. Koenekoop2, European Retinal Disease Consortium study group, Anneke I. Den Hollander1B, Jeroen B. Klevering1B, Frans P. Cremers1A. AHuman Genetics, BOphthalmology, 1Radboud Univ Nijmegen Med Ctr, Nijmegen, The Netherlands; 2Ophthalmology, McGill Univ Health Centre, Montreal, QC, Canada.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2376/ D639. Novel Cone Transducin Alpha Subunit Mutation In Tunisian Patients And Genotype-phenotype Correlation In Complete Achromatopsia
Farah Ouechtati1,2, Ahlem Merdassi1, Yosra Bouyacoub1,2, Leila Largueche1, Leila Tiab3, Daniel F. Schorderet3,4, Francis L. Munier3,4, Leonidas Zografos3,4, Sonia Abdelhak2, Leila El Matri1. 1Oculogenetics UR17/03, Institute of Ophthalmology of Tunis, Tunis, Tunisia; 2Molecular Investigation of Genetic Orphan Diseases UR04/SP03, Institut Pasteur de Tunis, Tunis, Tunisia; 3Oculogenomics laboratory, Institute for Research in Ophthalmology and the Swiss Federal Institute of Technology, Sion, Switzerland; 4Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2377/ D640. Genotype and Phenotype of Patients with Congenital Stationary Night Blindness (CSNB)
Mieke M. Bijveld1, Maria M. Genderen, van1, Frans C. Riemslag1, Frank P. Hoeben1, Arthur A. Bergen2, Astrid M. Kappers3, Maarten Kamermans4. 1Ophthalmology, Bartimeus, Zeist, The Netherlands; 2Molecular Ophthalmogenetics, Netherlands Inst for Neuroscience, Amsterdam, The Netherlands; 3Helmholtz Institute, Physics of Man, Utrecht University, Utrecht, The Netherlands; 4Retinal Signal Processing, Netherlands Inst for Neurosci, Amsterdam, The Netherlands.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2378/ D641. Clinical Phenotype in a Family with X-linked Juvenile Retinoschisis and a Novel XLRS1 Mutation
Carolee M. Cutler Peck, Sandeep Grover. Ophthalmology, University of Florida, Jacksonville, FL.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2379/ D642. X-linked Retinoschisis: Age And Mutation Type Effect On Retinal Function Measured By ERG
Kristen E. Bowles1A, Catherine A. Cukras1A, Rafael C. Caruso2, Amy Turriff1A, Susan Vitale1B, Yuri V. Sergeev1A, Patrick Lopez1A, Leanne Reuter1A, Paul A. Sieving1. AOGVFB, BDiv Epidemiol & Clinical Applications, 1National Eye Institute, Bethesda, MD; 2Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2380/ D643. Phenotype of RDH12-related Early-Onset Retinal Dystrophy
Julie De Zaeytijd1A, Frauke Coppieters1B, Linda Visser2, Sophie Walraedt1A, Rob W. Collin3, Elfride De Baere1B, Christian P. Hamel4,5, L I. van den Born2, Bart P. Leroy1A,1B. ADept of Ophthalmology, BCenter for Medical Genetics, 1Ghent University Hospital, Ghent, Belgium; 2Rotterdam Eye Hospital, Rotterdam, The Netherlands; 3Human Genetics, Radboud Univ Nijmegen Med Ctr, Nijmegen, The Netherlands; 4U583, INSERM, Montpellier Cedex 05, France; 5Ophthalmology, CHU Hôpital Gui de Chaulia, Montpellier, France.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2381/ D644. Phenotype of a Novel RDH12 Mutation in Leber Congenital Amaurosis
Michelle Diaz, Sandeep Grover. University of Florida, Jacksonville, FL.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2382/ D645. A Novel Insertional RPE65 Mutation in Southern Indian Cohort of Leber Congenital Amaurosis (LCA) Patients
Anshuman Verma1, Sundaresan Periasamy1, Vijayalakshmi Perumalsamy2. 1Department of Genetics, Aravind Medical Research Foundation, Madurai, India; 2Department of Pediatric Ophthalmology, Aravind Eye Hospital, Madurai, India.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2383/ D646. TSPAN12 Mutations in Familial Exudative Vitreoretinopathy Patients
Wendy A. Dailey1, Antonio Tarasconi1, Courtney Kauh1, Sean Gappy1, Kimberly A. Drenser2. 1Research Institute, William Beaumont Hospital, Royal Oak, MI; 2William Beaumont Hosp, Associated Retinal Consultants, Royal Oak, MI.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2384/ D647. A Shared Hla-drb1 Epitope In The Dr Beta First Domain Is Associated With Vogt-koyanagi-harada Syndrome In Indian Patients
Edoardo Baglivo1A, Rathinam Sivakumar2, Marianne Gex-Fabry1B, Jean-Marie Tiercy1C. AClinique d'Ophtalmologie, BPS-Recherche Clinique, CNational Reference Laboratory for Histocompatibility, Transplantation Immunology Unit, 1Geneva University Hospital, Geneva, Switzerland; 2Uveitis Clinic, Aravind Eye Hospital, Madurai, India.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2385/ D648. Ocular Albinism in Chinese: Atypical Signs Are the Typical Phenotypes
Xiao-yun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang. State Key Lab of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen Univ., Guangzhou, China.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2386/ D649. Molecular Analysis Of Tyr, P, Tyrp1 And Gpr143 Genes In Italian Patients With Oculocutaneous And Ocular Albinism
Maria Cristina Patrosso1A, Lucia Mauri1A, Silvana Penco1A, Luca Barone1A, Alessandra Del Longo1B, Marco Mazza1B, Giovanni Marsico1B, Muna Al Oum1B, Alessandro Marocchi1C, Elena Piozzi1B. AMedical Genetics Laboratory, BPediatric Ophtalmology, CBiochemistry Laboratory, 1Niguarda Ca Granda Hospital, Milan, Italy.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2387/ D650. Cone Dysfunction: a Common Sign That Differentiate Mendelian High Myopia From Complex High Myopia
Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang. Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2388/ D651. In Vivo Retinal Pathology in Human MFRP Disease
Jackie Estreicher1, Tomas S. Aleman1, Juan C. Zenteno2, Sharon B. Schwartz1, Margarita Matias-Florentino2, Alejandro J. Roman1, Beatriz Buentello-Volante2, Alexander Sumaroka1, Artur V. Cideciyan1, Samuel G. Jacobson1. 1Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA; 2Department of Ophthalmology-Research Unit, Institute of Ophthalmology, Mexico City, Mexico.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2389/ D652. Prevalence, Phenotype and Genotype Spectrum of Vitelliform Macular Dystrophy In Denmark
Patrik S. Schatz1, Hanna Bitner2, Dror Sharon2, Thomas Rosenberg3. 1Ophthalmology, Lund University Hospital, Lund, Sweden; 2Dept of Ophthalmology, Hadassah-Hebrew Univ Med Ctr, Jerusalem, Israel; 3Gordon Norrie Centre, Copenhagen, Denmark.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2390/ D653. Molecular Modeling And Functional Analysis Of Pathogenic Mutations In the Nucleotide Binding Domains Of the Abca4 Transporter
Yuri V. Sergeev1A, Lauren Dalvin1A, Jamie Temple1B, Monika B. Dolinska1, Brian P. Brooks1A, Kerry Goetz1B. AOGVFB, BNational Ophthalmic Disease Genotyping and Phenotyping Network, EyeGENE, 1National Eye Institute, NIH, Bethesda, MD.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2391/ D654. Prevalence And Novelty Of ABCA4 Mutations In French Patients With Stargardt Disease Or Simplex Cone-rod Dystrophy
Isabelle S. Audo1,2, Saddek Mohand-Saïd1,2, Maria Fransson2, Aurore Germain1, Aline Antonio1,2, Veselina Moskova-Doumanova1, Marie-Elise Lancelot1, Shomi S. Bhattacharya1,3, José-Alain Sahel1,2, Christina Zeitz1. 1Department of Genetics, UMRS 968-Institut de la Vision-CNRS, UMR_7210-UPMC Univ Paris 06, Paris, France; 2Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, France; 3Institute of Ophthalmology, London, United Kingdom.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2392/ D655. Differentiating ABCA4 And MIDD Maculopathies Using Fundal Autofluorescence And High Definition Optical Coherence Tomogrpahy
Leo Sheck1, Dianne M. Sharp2, Andrea L. Vincent1. 1Ophthalmology, University of Auckland, Auckland, New Zealand; 2Ophthalmology, Retina Specialists, Auckland, New Zealand.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2393/ D656. The Effects of CFH, HTRA1 and IL-8 Genes Polymorphism on Clinical Picture of Choroid Neovascular Membrane
Ekaterina Chikun1, M.V. Budzinskaya2, T.V. Pogoda3, I.D. Strelkova3. 1I.M. Sechenov First Moscow Medical University, Moscow, Russian Federation; 2State Research Institute of Eye Disease of Russian Academy of Medical Sciences, Moscow, Russian Federation; 3Research Institute of Physical-Chemical Medicine, Moscow, Russian Federation.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2394/ D657. Sporadic Case of Congenital Fibrosis of the Extraocular Muscles
Zahra K. Ali1A, Xin Gong1, Juan Pascual1B, Vinod V. Mootha1A. ADepartment of Ophthalmology, BDepartments of Neurology, Physiology and Pediatrics, 1University of Texas Southwestern Medical Center, Dallas, TX.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2395/ D658. Phenotype in Two Consanguineous Tunisian Families With non Syndromic Autosomic Recessive Retinitis Pigmentosa Caused by an USH2A Mutation
Ahmed Chebil1A,2, Leila Largueche1A,2, Fedra Kort1A, Rim Bouraoui1A, Kaouther Derouiche2,1, Isabelle Favre3, Hasret Bajrami3, Francis L. Munier4, Daniel F. Schorderet3, Leila El Matri1A,2. ADepartment B of Ophthalmology, 1Hedi Rais Institute of Ophthalmology, Tunis, Tunisia; 2Oculogenetics unit, UR 17/04, Tunis, Tunisia; 3Ophthalmology, IRO-Institute for Research in Ophthalmology, Sion, Switzerland; 4Ophthalmology Department, Jules-Gonin Eye Hospital, Lausanne, Switzerland.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2396/ D659. An Association between Killer Cell Immunoglobulin-like Receptor (KIR) Genes and Toxoplasmic Retinochoroiditis
David C. Reed1A, Gary N. Holland1A, Patrick A. Coady2, Ralph D. Levinson1A, Michael E. Zegans2, Tiago E. Arantes1A, Jose G. Montoya3, Ying Qian4, Raj Rajalingam1B, North American Ocular Toxoplasmosis Research Group. AJules Stein Eye Institute, BDepartment of Pathology and Laboratory Medicine, 1David Geffen School of Medicine at UCLA, Los Angeles, CA; 2Dartmouth Medical School, Lebanon, NH; 3Stanford University School of Medicine, Stanford, CA; 4Francis I Proctor Foundation, UC San Francisco, San Francisco, CA.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2397/ D660. Natural History, Genotype-Phenotype Correlation and Differential Diagnosis of the Brittle Cornea Syndrome
Irene H. Maumenee1, Abdulmunim F. Alharbi2, Fatoumata Yanoga1, Nathalie F. Azar3. 1Ophthalmology, University of Illinois Eye and Ear Infir, Chicago, IL; 2Ophthalmology, Taibah University, Madinah, Saudi Arabia; 3Ophthalmology and Visual Sciences, Univ of Illinois at Chicago, Chicago, IL.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2398/ D661. Two Novel Mutations Of The Pax6 Gene With Different Phenotype In A Cohort Of Chinese Patients
Yang LI, Xiaohui Zhang, Wenjun Xu, Liang Xu. Beijing Inst of Ophthalmology, Beijing Tongren Hospital, Beijing, China.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2399/ D662. Abnormal Cone ERGs In A Family With Congenital Nystagmus, Photophobia, Harboring An X423L Mutation In The PAX6 Gene
Natalie C. Kerr1, Nizar Smaoui2, Alessandro Iannaccone1. 1Ophthalmology/Hamilton Eye Institute, Univ Tennessee HSC, Memphis, TN; 2GeneDx, Gaithersburg, MD.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2400/ D663. Orbscan And Pentacam Analysis Of The Cornea In Marfan And Suspected Marfan Syndrome
Andrea L. Vincent1,2, Will Ikink1, Rasha Al-Taie1,2. 1Ophthalmology, University of Auckland, Auckland, New Zealand; 2Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.

Monday, May 02, 2011, 3:45 PM - 5:30 PM
2401/ D664. A Novel Mutation In The CYP4V2 Gene In A Japanese Patient With Bietti’s Crystalline Corneoretinal Dystrophy
Yumiko Yokoi1, Kota Sato2, Hajime Aoyagi1, Yoshihisa Takahashi1, Minako Yamagami3, Tadashi Ito1, Mitsuru Nakazawa1. 1Department of Ophthalmology, Hirosaki Univ Grad Sch of Med, Hirosaki-shi, Japan; 2Biochemistry and Biotechnology, Division of Cell Technology, Faculty of Agriculture and Life Science, Hirosaki University, Hirosaki-shi, Japan; 3Yamagami Eye clinic, Aomori-shi, Japan.

 





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