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The Meeting of the International Society for Genetic Eye Diseases & Retinoblastoma The Meeting of the International Society for Genetic Eye Diseases & Retinoblastoma Ghent, Belgium August 22 – 24, 2013 ISGEDR 2013 2 Welcome to Ghent and to Your Meeting … Dear Participant Allow us to wish you a very warm welcome to the wonderful city of Ghent for the 2013 Meeting of the ISGEDR. With a program filled to the brim with fantastic presentations, we are confident that you will find this meeting most stimulating. The scientific quality of the papers and posters given by the participants covers a broad spectrum of genetic eye disease and retinoblastoma. Mixed with the free papers, are a number of symposia and keynote lectures. In addition to the superb intellectual gems of the free papers and posters, the symposia and keynote lectures will most certainly update us on the latest developments in therapies for inherited retinal dystrophies, current concepts of fibrillinopathies and related disorders, recognition and management of seeding of retinoblastoma, genome-wide association studies, and how novel molecular genetic techniques influence current ophthalmic genetic practice. We are certain that you may also find the beauty of Ghent and its many cultural highlights a treat. In addition to lunch provided on site, other culinary delights include a Belgian beer tasting with assorted cheeses on Thursday evening, and a gala dinner on Saturday evening in Hôtel Falligan, the most important rococo building of Ghent, built in 1755. We hope you have a great ISGEDR 2013 Meeting! Bart P. Leroy, M.D., Ph.D. Meeting Chair, and Head of Local Organizing Committee David A. Mackey, M.D. President, ISGEDR Elias I. Traboulsi, M.D. Executive Vice-President, ISGEDR Brenda Gallie, M.D. Member, Scientific Program Committee Birgit Lorenz, M.D. Member, Scientific Program Committee ISGEDR 2013 3 The International Society for Genetic Eye Diseases ISGEDR Mission Statement To bring together individuals interested in the field of genetic diseases of the eye and in retinoblastoma *** To provide a forum for researchers in the field of genetic diseases of the eye to share information *** To promote international collaborations in the study of genetic diseases of the eye and in retinoblastoma *** To disseminate scientific knowledge through international conferences and through its official publication, Ophthalmic Genetics ISGEDR 2013 4 The International Society for Genetic Eye Disease & Retinoblastoma wishes to thank the following sponsors who have generously supported the 2013 ISGEDR Meeting Platinum sponsor Gold sponsors Silver sponsor Bronze sponsors Sponsors ISGEDR 2013 5 ISGEDR 2013 6 A Special Thank You To four people without whom the ISGEDR 2013 Meeting wouldn't be what it is: Mrs. Sandy WONG, Cleveland, OH, USA Mrs. Ingrid VERVENNE, Ghent, BELGIUM Mrs. Mayya TRABOULSI, Cleveland, OH, USA Mrs. Véronique LEROY-DERVEAUX, Ghent, BELGIUM ISGEDR 2013 7 Thursday August 22, 2013 9:00 - 9:15 Welcome Dr. David MACKEY Dr. Bart P. LEROY 9:15 - 9:30 Official Opening Dr. Anne DE PAEPE Geneticist & Rector-Elect Ghent University 9:30 - 11:00 Genetics Session 1 Chairs: Birgit LORENZ & Clinical Ophthalmic Genetics Elias I TRABOULSI 9:30 Autosomal recessive bestrophinopathy Rajani BATTU Bangalore, India 9:42 Regulatory mutations in the 5'-UTR of Frauke COPPIETERS, Ghent, NMNAT1, cause Leber congenital amaurosis Belgium 9:54 Adult-onset cone dystrophy associated with Rola BA-ABBAD carboxyl RPGR mutations London, UK 10:06 Is the visual function seen in a child with Hanna L SCANGA lipemia retinalis reversible? Pittsburgh, PA, USA 10:18 Benign yellow dot dystrophy Arundhati DEV BORMAN London, UK 10:30 Bestrophinopathy with low penetrance of Meghan MARINO BEST1 mutation? Cleveland, USA 10:42 Characterization of photoreceptor structure in Robert HUFNAGEL Seattle, LCR-deletion associated blue cone WA, USA monochromatism 10:54 Identification of concurrent PRPH2 & RP2 Dianne KH WHEATON mutations within an apparent autosomal Dallas, TX, USA dominant pedigree: when are we done testing? 11:06 Copy number analysis of ABCA4 in Belgian Miriam BAUWENS patients with Stargardt disease reveals exon Ghent, Belgium 20-22 deletion 11.18 The number of sequence variations detected in Virginia UTZ ABCA4 correlates with poorer VA in a cohort of Cleveland, OH, USA Stargardt disease patients 11:20 - 12:15 Break Poster Viewing ISGEDR 2013 8 12:15 - 13:00 Franceschetti Lecture Dr. Edwin M STONE Iowa City, IA, USA Introduced by Dr. David MACKEY 13:00 - 14:00 Lunch - Provided on Site Poster Viewing 14:00 - 15:48 Retinoblastoma Session 1 Chairs: Brenda GALLIE & Diagnosis, Epidemiology & Genetics Ashwin REDDY 14:00 Retinoblastoma clinical research in Egypt: 5 Ahmad SAMIR years experience Cairo, Egypt 14:12 Squint as a presenting feature in Ashwin REDDY retinoblastoma London, UK 14:24 Molecular surveillance for metastatic Brenda GALLIE retinoblastoma Toronto, Canada 14:36 Second non-ocular tumors among survivors of Shizuo MUKAI retinoblastoma treated with proton Boston, MA, USA radiotherapy 14:48 Diagnostic performance of MRI and CT for Marcus DE JONG retinoblastoma: a systematic review and meta- Amsterdam, The analysis Netherlands 15:00 Delay in the diagnosis of retinoblastoma in the Ashwin REDDY UK: has anything changed in 2 decades? London, UK 15:12 Outcomes of intra- and extra-ocular Parag SHAH retinoblastomas from a single institute in South Tamil Nadu, India India 15:24 Eye cancer pathology in Kenya Helen DIMARAS Toronto, Canada 15:36 Detection of calcifications in RB using gradient- Pim DE GRAAF echo MR imaging sequences: comparative Amsterdam, The study between in vivo MR imaging and ex vivo Netherlands high-resolution CT 15:48 - 16:30 Break Poster Viewing ISGEDR 2013 9 16:30 - 18:42 Genetics Session 2 Chairs: Petra Liskova & Anterior Segment, Glaucoma, Ocular Elise HEON Development & Syndromes 16:30 ADAMTS9 as a candidate gene in pathogenesis Johane DUBAIL of anterior segment dysgenesis Cleveland, OH, USA 16:42 Expansion of the ocular phenotype caused by Gavin ARNO mutations in ADAMTS18 London, UK 16:54 Epithelial recurrent erosion dystrophy: a Walter LISCH misnomer? Hanau, Germany 17:06 Homozygous mutations in PXDN cause Kamron KHAN congenital cataract, corneal opacity and Leeds, UK developmental glaucoma 17:18 Non-selective assembly of fibrillin microfibrils Lauren C BEENE Cleveland, in the rodent ocular zonule and in vitro: OH, USA implications for Marfan syndrome 17:30 Ocular features of microcephaly with or Irina BALIKOVA without chorioretinopathy, lymphedema, or Ghent, Belgium mental retardation (MCLMR) syndrome due to KIF1 mutations 17:42 Harboyan syndrome in a Czech proband caused Petra LISKOVA by a novel homozygous nonsense mutation in Prague, Czech Republic SLC4A11 17:54 Brittle cornea syndrome: characterization of a Louise PORTER retinal phenotype with relevance to common Manchester, UK ocular disease 18:06 Identity-by-descent mapping and exome Hannah VERDIN sequencing reveals new candidate gene for Ghent, Belgium primary congenital glaucoma locus GLC3E 18:18 Eye developmental anomalies and the vitamin- Nicky RAGGE A pathway Oxford, UK 18:30 MSX2 gene duplication with eye development Julie PLAISANCIE defect Strasbourg, France 18:45 - 20:45 Belgian Beer Tasting Please note that this may Het Pand not be a complete meal - See list of restaurants ISGEDR 2013 10 Friday August 23, 2013 08:30 - 09:54 Genetics Session 3 Chairs: Frauke COPPIETERS Genetic Testing & Lisa KEARNS 8:30 Search for New Genes in Autosomal Recessive Nour-Al-Dain MARZOUKA Retinitis Pigmentosa Montpellier, France 8:42 Genetics of isolated unilateral retinoblastoma Dietmar LOHMANN Duisburg-Essen, Germany 8:54 A novel approach to molecular diagnosis of Gemma D'ELIA retinoblastoma using next-generation Rome, Italy sequencing and RB1 custom ACGH 9:06 The Role of Genetic Testing in Elucidating the Joanne SUTHERLAND Cause of Early Onset Horizontal Nystagmus Toronto, Canada (EOHN) 9:18 Losing the "middle man" in genetic eye Lisa S KEARNS disease: the current scope of direct to Melbourne, Australia consumer testing in ophthalmology 9:30 Next-generation sequencing panel to Said EL SHAMIEH determine the real prevalence for gene defects Paris, France underlying rod-cone dystrophies 09.42 Identification of novel homozygous deletions in Kristof VAN SCHIL consanguineous pedigrees as a shortcut to Ghent, Belgium candidate gene discovery in inherited retinal dystrophies 09:55 - 10:40 François Lecture: "Fibrillinopathies and Dr. Elias I TRABOULSI, related disorders - Molecular Cleveland, OH, USA Introduced by Dr. Bart P. considerations and ocular phenotypes" LEROY 10:40 - 11:15 Break Poster Viewing 11:15 - 13:00 Symposium: Update on Gene Therapy & Stem Chairs: Mark PENNESI & Cell Therapy for Retinal Dystrophies Bart P LEROY 11:15 How do you deliver gene therapy to the eye? Albert M MAGUIRE Philadelphia, PA, USA ISGEDR 2013 11 11:30 Retinal dystrophies: defining new endpoints for Birgit LORENZ therapeutic trials Giessen, Germany 11:45 Gene therapy for Leber congenital amaurosis Jean BENNETT Philadelphia, PA, USA 12:00 Gene therapy for choroideraemia Mandeep SINGH Oxford, UK 12:15 Gene therapy for Stargardt disease Isabelle AUDO Paris, France 12:30 Gene therapy for Usher syndrome type 1B Mark PENNESI Portland, OR, USA 12:45 Stem cell therapy for retinal dystrophies Mandeep SINGH Oxford, UK 13:00 - 13:45 Lunch - Provided on Site Poster Viewing 13:45 - 14:15 Business Meeting of ISGEDR All Members David MACKEY Presiding 14:15 - 15:00 Genetics Session 4 Chairs: Arlene DRACK & Therapy for retinal dystrophies John G FLANNERY 14:15
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