ISGEDR Joint Meeting - Lausanne 2021 - Quicklinks

ISGEDR 2021 Lausanne – Meeting Language

The ISGEDR 2021 Joint Meeting with EURbG, SGOF and ERN-EYE will be held in English, EXCEPT for the part of the programme ran by la Société de la Génétique Ophtalmologique (SGOF), which will be held in French only, on Friday 3 September 2021.

ISGEDR 2021 Lausanne – Virtual Posters Programme

Thursday, September 2nd, 2021

Ophthalmic Genetics 1:
Associated Posters with Online Rapid-Fire Presentations

Abstract OcGen68 Clinical and Genetic Characteristics of 38 Consecutive Patients with CRB1-associated Retinal Dystrophies Hôpital Gui de Chauliac – Montpellier – France Kevin MAIROT
Abstract OcGen48 Two Cases of CRB1-Related Retinal Dystrophy Associated with Retinal Masses Wills Eye Hospital, Philadelphia, Pennsylvania Nicholas BELLO
Abstract OcGen81 A Multicentric Longitudinal Natural History Study of Usher Syndrome due to Mutations in the MYO7A gene: Preliminary Results in the Italian Cohort University of Campania Luigi Vanvitelli Valentina DI LORIO
Abstract OcGen1 Natural history study of visual function in patients with BBS1- and BBS10-related retinal degeneration. The Hospital for Sick Children and University of Toronto, Toronto, Canada Monika GRUDZINSKA PECHHACKER
Abstract OcGen56 Very High Myopia Associated with RPGR Gene Variant Aristotle University of Thessaloniki, Thessaloniki, Greece. Asimina MATAFTSI
Abstract OcGen80 Genetic and Clinical Characteristics of Slovenian Patients with RPGR-Associated Retinal Disorders Eye Hospital, University Eye Hospital Ljubljana, Slovenia Ana FAKIN
Abstract OcGen69 Genotype-Phenotype Correlation and Disease Modeling in RPGR-Related Retinal Dystrophies Sorbonne Université, IInstitut de la Vision, Paris, France Marco NASSISI
Abstract OcGen60 Deep analysis of WGS data, strategy and algorithms Sorbonne Université, IInstitut de la Vision, Paris, France Julien NAVARRO
Abstract OcGen74 Natural History of Retinal Degeneration Associated With a Founder Mutation in the PDE6B Gene University of Auckland, Auckland, New Zealand Andrea VINCENT
Abstract OcGen83 Phenotype variability associated with mutations in the POC1B gene University Hospital Zurich, University of Zurich, Zurich, Switzerland Christina GERTH-KAHLERT
Abstract OcGen89 Phenotypic and Molecular Characterization of Ocular and Systemic Features of DDX58-Related Singleton-Merten Syndrome. University of Michigan Lev PRASOV
Abstract OcGen102 Insights from Imaging PRPH2 Phenotypes West Coast Retina Gp. Vanderbilt Eye Institute Anita AGARWAL
Abstract OcGen35 Association Between Phenotype and Serum Concentration of Vitamin A in Patients With P.G90D Variant in Rhodopsin Gene Eye Hospital, University Clinical Center Ljubljana Tjaša KRASOVEC & Nina KOBAL
Abstract OcGen49 Manifestation of Retinal Dystrophy in a child with TCIRG1-related Autosomal Recessive Osteopetrosis Washington University School of Medicine, St. Louis MO Hosannah EVIE
Abstract OcGen76 Identification of Dormant Cones in Subjects with Rod-Cone Dystrophy CHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, F-75012 Paris, France Anaïs GRIMAUD
Abstract OcGen61 USH2A Variants Spectrum in a French Cohort Sorbonne Université, IInstitut de la Vision, Paris, France Luiza NEVES
Abstract OcGen4 SCLT1-related disease as a rare cause of cone dystrophy with subtle systemic associations resembling ciliopathy. St Erik Eye Hospital and Karolinska Institutet, Stockholm, Sweden Monika GRUDZINSKA PECHHACKER
Abstract OcGen27 Spectrum of Mutations in 11 Choroideremia Czech Patients Charles University and the General University Hospital, Prague Monika CHYLOVA
Abstract OcGen28 High-resolution Retinal Imaging Analysis of Patients with Autosomal Dominant Retinitis Pigmentosa Caused by HK1 Mutation Nippon Medical School, Chiba Hokusoh Hospital, Japan Kiyoko GOCHO
Abstract OcGen32 Early diagnosis of CDG1-associated Retinopathy Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France Sabine DEFOORT-DHELLEMMES
Abstract OcGen11 Achromatopsia in the Czech Republic: Mutational Spectrum and Clinical Findings Charles University and General University Hospital, Prague, Czech Republic Marie VAJTER
Abstract OcGen41 Phenotype and Genotype of Inherited Retinal Disorders in Democratic Republic of Congo (DRC) University of Kinshasa Nadine NSIANGANI
Abstract OcGen39 Studying the Genetic Basis of Inherited Retinal Diseases (IRDs) in Greece: Preliminary Results Aristotle University of Thessaloniki, Thessaloniki, Greece Evangelia PANAGIOTOU

Ophthalmic Genetics 4:
GREET-Associated Posters with Online Rapid-Fire Presentations

Abstract OcGen95 Congenital Stationary Night Blindness in a Patient with Mild Learning Disability due to a Compound Heterozygous Microdeletion of 15q13 and a Missense Mutation in TRPM1 University Hospitals Leuven Irina BALIKOVA
Abstract OcGen93 A Novel TGFBI Gene Mutation Associated with a Deep Stromal Phenotype and Late-Onset Lattice Dystrophy in a French Family Hôpital Jules Gonin, Université de Lausanne, Lausanne. Aleksandra PETROVIC
Abstract OcGen84 Jalili Syndrome: a Novel Mutation – Phenotypic Expression Clinique Jules Verne, Route de Paris 44300 NANTES Marine SOURDRIL
Abstract OcGen15 A case of early-onset retinal dystrophy associated with NEK1 gene mutations in siblings Hamamatsu University School of Medicine Akiko HIKOYA
Abstract OcGen19 A novel GUCY2D missense mutation in a patient with Leber congenital amaurosis PGIMER Savleen KAUR
Abstract OcGen79 A Patient with a Mild Clinical Presentation of Joubert Syndrome due to Biallelic MKS1 Truncating Mutations University of Campania Luigi Vanvitelli Raffaella BRUNETTI-PIERRI



Friday, September 3rd, 2021

Retinoblastoma Session 1 :
Associated Posters with Online Rapid-Fire Presentations

Abstract Rb6 Application of Ruthenium-106 brachytherapy plaque for residual or recurrent retinoblastoma after intra-arterial chemotherapy Sant Joan de Deu Hospital Alicia López de Eguileta
Abstract Rb10 Intravitreal Melphalan Chemotherapy for Vitreous Seeds in Retinoblastoma King Hussein Cancer Center Mona Mohammad
Abstract Rb13 Different melphalan intravitreal dose in combined retinoblastoma polychemotherapy National Academy of Medical Sciences of Ukraine Nadiia Bobrova
Abstract Rb26 The Role of Three-component Selective Intra-arterial Chemotherapy in the Failure of Standard Organ-preserving Treatment in Children with Intraocular Retinoblastoma National Medical Research Centre of Oncology, Moscow, Russia Tatiana Ushakova
Abstract Rb14 Vascular aspects and complications of intraarterial chemotherapy in children with retinoblastoma: a ten-year experience Hospital CHUV, Lausanne, Switzerland Bastien Marti
Abstract Rb29 Comparision of Efficacy and Side-effects of Two Different Eye-preserving Systemic Chemotherapy Regimens in Children with Retinoblastoma Department of Pediatric Hematology and Oncology, University Hospital Essen, Germany Petra Ketteler
Abstract Rb32 Transpupillary Thermotherapy in Children with Retinoblastoma: Long-Term Results National Medical Research Center Academician, Moscow, Russia Denis Volodin
Abstract Rb25 Safety and Efficacy of Pars Plana Vitrectomy in Management of Rhegmatogenous Retinal Detachments with Posterior Breaks Occurring During Management of Active Retinoblastoma Aravind Eye Hospital, Coimbatore, Tamil Nadu, India Shah Parag
Abstract Rb35 Advances in Treatment of Bilateral Retinoblastoma: 26-year Experience Istanbul University, Oncology Institute, Pediatric Hematology-Oncology Rejin Kebudi
Abstract Rb36 Advanced Unilateral Retinoblastoma: Proposal for European Standard Clinical Practice Guidelines (ERN PaedCan / EuRbG Working Group 2) Institut Curie, Paris & Jules-Gonin Eye Hospital, Lausanne Alexandre Matet
Abstract Rb7 Evaluation Of Screening Protocol Used For Children At Risk For Familial Retinoblastoma: Dutch Retrospective Population Based Cohort Study Amsterdam UMC, location VUMC, dept of Ophthalmology Nara Badalova
Abstract Rb37 Updating and Evaluating Adherence to Standard Operating Procedures in the Retinoblastoma Pathway of Care The Hospital for Sick Children, Toronto, Canada Aaditeya Jhaveri

Retinoblastoma Session 2:
Associated Posters with Online Rapid-Fire Presentations

Abstract Rb38 Distant retrobulbar optic nerve infiltration in treated retinoblastoma: a case report Jules-Gonin Eye Hospital Alexandre P. Moulin
Abstract Rb27 Extended Surgical Interventions in Children with Retinoblastoma Invasion into the Optic Nerve National Medical Research Centre of Oncology, Moscow, Russia Tatiana Ushakova
Abstract Rb12 Enucleation using high frequency electric welding in high risk retinoblastoma National Academy of Medical Sciences of Ukraine Nadiia Bobrova

Retinoblastoma Session 5:
Associated Posters with Online Rapid-Fire Presentations

Abstract Rb28 Hurdles In Retinoblastoma Management In Uganda Light For the World Geoffrey Wabulembo



Saturday, September 4th, 2021

Ophthalmic Genetics 5:
Associated Posters with Online Rapid-Fire Presentations

Abstract OcGen70 Readability, Suitability, and Quality of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options Emory University School of Medicine, Children’s Healthcare of Atlanta Stacy Partin
Abstract OcGen92 Assessing the Impact of COVID-19 on Disparities of Accessibility of Genetic Testing, Treatment, and Care University of Rochester Medical Center, Rochester, NY Ashlee Joan Macalino
Abstract OcGen82 ERN-EYE, Latest Advances of the Network to Better Serve Patients’ Needs ERN-EYE coordination, Hôpitaux Universitaires de Strasbourg, Strasbourg, France Dorothée Leroux

Ophthalmic Genetics 6:
Associated Posters with Online Rapid-Fire Presentations

Abstract OcGen90 Genotype-Phenotype Spectrum in Patients with Novel Variants in the ADAMTSL4 Gene University Hospital Zurich and University of Zurich, Zurich, Switzerland Britta Brühwiler
Abstract OcGen20 Progressive Bilateral Nuclear Cataracts Associated with Cerebellar-Facial-Dental Syndrome: a Case Report, Literature Review and Identification of a New Genetic Variant Creighton University School of Medicine, Omaha, Nebraska, USA James Plotnik /Brianna Pandey
Abstract OcGen23 Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia Federal University of São Paulo (UNIFESP), Brazil Olivia Zin
Abstract OcGen64 Congenital Corneal Opacification in 22q Deletion Syndrome UPMC Children’s Hospital of Pittsburgh Ken Nischal
Abstract OcGen96 The Retinoic Acid Pathway and Developmental Eye Anomalies: Expanding the Genetic and Phenotypic Spectra Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy Fabiola Ceroni
Abstract OcGen52 Confirmation of n.37C>T in MIR204 as a cause of retinal dystrophy, iris coloboma and cataract Charles University, Prague, Czech Republic Jana Moravíková

Ophthalmic Genetics 7:
Associated Posters with Online Rapid-Fire Presentations

Abstract OcGen43 Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 in a Child with Infantile Epileptic Encephalopathy and Cortical Vision Impairment University of Zurich, Institute of Medical Molecular Genetics Fatma KIVRAK PFIFFNER
Abstract OcGen86 Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: From the Clinic to Genetics INSERM U1298 Beatrice BOCQUET
Abstract OcGen73 Congenital posterior pole tumour in disseminated infantile myofibromatosis due to a rearrangement in PDGFRB University of Auckland and Greenlane Clinical Centre, Auckland, NZ Sarah HULL



ISGEDR 2021 - Lausanne