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.

Meeting Organisers

Prof Francis Munier, ISGEDR President & Local Organiser

Prof Isabelle Audo, SGOF President

Prof Guillermo Chantada, EURbG President

Prof Hélène Dollfus, Coordinator ERN-EYE

Scientific Program Committee Members

Bart Leroy – Chair

Prof Isabelle Audo   –   Prof Guillermo Chantada   –   Meghan DeBenedictis

Prof Hélène Dollfus   –   Juliana Ferraz Sallum   –   Elise Heon

Annette Moll   –   Prof Francis Munier   –   Elias I Traboulsi

Meeting at a Glance



Thursday Genetics

Thursday Rb

Friday Rb

Friday Genetics

Saturday Genetics

9:00-10:00 1 Genetics 1   Rb 1 SGOF Meeting Genetics 4
10:00-11:00 2 Genetics 2   Rb 2 SGOF Meeting Genetics 5
11:00-11:30 COFFEE
Poster Viewing Poster Viewing Poster Viewing Poster Viewing Poster Viewing
11:30-12:30 3 Genetics 3 EURbG
Meeting Starts
Rb 3 SGOF Meeting Genetics 6
13:30-14:30 Named Lecture Francois Lecture EURbG
Ellsworth Lecture SGOF Meeting Franceschetti Lecture
14:30-16:00 Mini symposium Gene Therapy EURbG
Meeting Continues
Ends at 16:00
Liquid Biopsies 15:30 –16:00
Special Lecture

14:30 – 15:00
Special Lecture




15:00 – 16:00
Gene Therapy for AMD

16:00-16:30 COFFEE
Poster Viewing Poster Viewing Poster Viewing Poster Viewing 16:00 – 17:00
Gene Therapy Mitochondrial Genes
16:30-18:00 4 GREET ERN-i   WHO (GICC program)   Meeting Adjourns at 17:00

Thursday September 2nd, 2021

Auditorium - (200 Seats)

Session 1

08:00-09:00     Coffee & Registration

09:00-09:15     Welcome and Opening of the Joint ISGEDR/SGOF/EURbG/ERN-EYE Meeting - F. Munier, I Audo, G Chantada and H. Dollfus

09:15-10:00     Ophthalmic Genetics 1 - Free Papers

10:00-11:00     Ophthalmic Genetics 2 - Free Papers


11:30-12:30     Ophthalmic Genetics 3 - Free Papers

12:30-13:30     LUNCH - (cocktail dinatoire)

Session 2

13:30-14:30     Introduction of the Jules Francois LecturersB.P. Leroy

FRANÇOIS LECTURE - J. Bennett & A.M. Maguire - "Using learnings from RPE65 gene therapy to advance treatments for other forms of congenital blindness"

14:30-16:00     Minisymposium - Gene Therapy (Nuclear Genes) - Organisers: I. Audo, H. Dollfus, B.P. Leroy


16:30-18:00     Ophthalmic Genetics 4 = Grand Rounds ERN-EYE Transnational (GREET) Meeting by the European Reference Network for Rare Eye Disease (ERN-EYE) - Case Presentations - Moderators: I. Audo, E. Héon, E.I. Traboulsi, H. Dollfus, B.P. Leroy


Friday September 3rd, 2021

Auditorium - (200 Seats)

Session 3

09:15-10:00     Retinoblastoma 1 - Survival and second cancers

10:00-11:00     Retinoblastoma 2 - Metastases


11:30-12:30     Retinoblastoma 3 - Interesting cases

12:30-13:30     LUNCH - (cocktail dinatoire)

Session 4

13:30-14:30     Introduction of Robert Ellsworth LecturerF. Munier

ELLSWORTH LECTURE - D.H. Abramson"Cell Free DNA in Retinoblastoma: What we know and what we don't know in 2021"

14:30-15:30     Minisymposium & Free papers Liquid Biopsies

15:30-16:00     Special Lecture - "Retinal cell types as a basis for ophthalmology in the 21st century"  - B. Roska

16:00-16:30     TEA & COFFEE & POSTER VIEWING

16:30-17:30     Retinoblastoma around the world - WHO (GICC program) - Global Retinoblastoma Outcome StudyD. Fabian, L. Desjardins, B. Gallie, L. Fernando Teixeira

17:30-18:00     ISGEDR Business Meeting


Saturday September 4th, 2021

Auditorium - (200 Seats)

Session 5

09:00-10:00     Ophthalmic Genetics 4 - Ocular Malformations & Syndromes

10:00-11:00     Ophthalmic Genetics 5 - Free papers


11:30-12:30     Ophthalmic Genetics 6 - Free papers

12:30-13:30     LUNCH - (cocktail dinatoire)

Session 6

13:30-14:30     Introduction of Albert Franceschetti LecturerE.I. Traboulsi

FRANCESCHETTI LECTURE - I. MacDonald“Choroideremia – Lessons From research and Clinical Trials”

14:30-15:00     Special Lecture - “Establishing a Successful Collaboration Between an Ophthalmic Genetics Service & a Molecular Ophthalmic Genetics Lab” - R.K. Koenekoop & F.P.M. Cremers

15:00-16:00     Minisymposium - Gene Therapy for AMDC. Klaver

16:00-17:00     Minisymposium - Gene Therapy (Mitochondrial Genes)G. Lenaers


ISGEDR 2021 Lausanne – Oral Presentations

Olympic Museum
Lausanne, Switzerland

September 2nd to 4th, 2021

Held jointly with the

European Group of Retinoblastoma (EURbG)
Société de Génétique Ophtalmologique Francophone (SGOF)
and European Reference Network dedi­cated to Rare Eye Diseases (ERN-EYE)

Thursday, September 2nd, 2021

Session 1 – 9:00-10:00 hrs  Ophthalmic Genetics 1
Phenotypes & Genotypes – Inherited Retinal Disorders

Moderators in person: Isabelle MEUNIER & Irene H MAUMENEE
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

8:45-8:53 OcGen6 Retinitis Punctata Albescens and RLBP1-Associated Phenotypes: Phenotype-Genotype Correlation and Natural History with the Aim of Gene Therapy National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, France.  Isabelle MEUNIER (P)
8:53-9:00 OcGen7 Congenital Stationary Night Blindness Presenting without Night Blindness in Children. What Leads to Diagnostic Delays? University of Iowa Alina V DUMITRESCU (P)
9:00-9:07 OcGen78 NR2E3-Related Dystrophies: a Retrospective Case Series of 50 Patients. Genetic Fndings, Detailed Phenotype and Electrophysiological Analysis CHNO des Quinze-Vingts, Paris, France Gabriel HALLALI (P)
9:07-9:14 OcGen34 Isolated Maculopathy And Moderate Rod–Cone Dystrophy Represent The Milder End Of The RDH12-Related Retinal Dystrophy Spectrum Dept of Ophthalmology, Ghent University Hospital, Ghent, Belgium Julie DE ZAEYTIJD (P)
9:14-9.21 OcGen99 Retrospective Analysis of Ocular Findings in Patients with Biallelic Mutations in CRB1 Columbia University, New York, NY Irene H MAUMENEE (P)
9:21-9:28 OcGen101 Sibling concordance in lesion growth rates in Stargardt disease using ultra-widefield fundus autofluorescence Lions Eye Institute, Perth, WA, Australia Rachael HEATH JEFFERY (V)
9:28-9:35 OcGen57 Progression of Stargardt disease as determined by electroretinography and autofluorescence over a median period of 17 years Eye Hospital, University Medical Centre Ljubljana Jana SAJOVIC (V)
9:35-9:42 OcGen24 Autosomal Recessive Bestrophinopathy in a Ghent Cohort Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium Ine STRUBBE (P)
9:42-9:49 OcGen77 Genotype-Phenotype Correlation in a Large Italian Cohort of Patients with Autosomal-Dominant Retinitis Pigmentosa due to Variants in RHO gene: a Longitudinal Natural History Study University of Campania Luigi Vanvitelli Francesco TESTA (V)
9:49-9:54 OcGen36 Progression Of Outer Retinal Layer Structural Changes In CNGA3 And CNGB3 – Associated Retinopathy Clinical Institute of Medical Genetics, University Medical Centre Ljubljana Nika VRABIC (P)

10:00-11:00 hrs Ophthalmic Genetics 2
Mechanisms of Disease & Preclinical Models in Ophthalmic Genetics

Moderators in person: Pascal ESCHER & Christina ZEITZ
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

10:00-10:07 OcGen22 Polycomb Repressive Complex-2 contributes to rod photoreceptor death process in several forms of retinal degeneration Hôpital Jules-Gonin, University of Lausanne Yvan ARSENIJEVIC


10:07-10:14 OcGen29 Shedding light on retina signaling by studying complete congenital stationary night blindness Institute of Ophthalmology, University College of London, London Helen FREDERIKSEN


10:14-10:21 OcGen51 Toward a better understanding of ITM2B pathogenicity in a specific retinal dystrophy, and its potential role in mitochondria Sorbonne Université, IInstitut de la Vision, Paris, France Tasnim BEN YACOUB


10:21-10:28 OcGen38 Towards the gene therapy for FAM161A associated retinitis pigmentosa in a mouse model Jules-Gonin Eye Hospital and University of Lausanne Ning CHANG


10:28-10:35 OcGen53 Validation of CRISPR/Cas9-mediated gene correction of the two most prevalent USH2A mutations in iPSC-derived retinal organoids Univ Montpellier, Inserm, Montpellier, France Carla SANJURJO SORIANO


10:35-10:42 OcGen42 Suitability of iPS-derived Retinal Pigment Epithelium (iRPE) as a Model for Lentiviral-mediated Gene Therapy (GT) Dept Ophthalmology , University of Lausanne Fondation Asile des aveugles Florian UDRY


10:42-10:49 OcGen2 Gene therapy rescues cone and rod function in a pre-clinical model of CDHR1-associated retinal degeneration through restoration of photoreceptor outer segments Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford Imran YUSUF (V)
10:49-10:56 OcGen37 Mouse Models for Dominant and Recessively Inherited NR2E3-linked Retinal Degenerations Bern University Hospital; Department of BioMedical Research, University of Bern Pascal ESCHER


10:56-11:03 OcGen106

A Tissue-specific Allelic Hierarchy Predicts Phenotypes for USH2A-related Disorders in the RUSH2A Study


National Eye Institute, Bethesda, MD Robert HUFNAGEL


11:00 to 11:30 – COFFEE BREAK

11:30-12:30 hrs Ophthalmic Genetics 3
Treatment of Inherited Retinal Disorders

Moderators in person: Birgit LORENZ & Daniel CHUNG
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

11:30-11:45 OcGen14 Therapeutic Pipeline for Stargardt disease Institute of Molecular and Clinical Ophthalmology Basel (IOB) Hendrik SCHOLL


11:45-11:52 OcGen40 High Dose Vitamin A Improves a Fundus Albipunctatus-like Phenotype Related to a Novel Null Retinol Carrier -Variant Sorbonne Université, IInstitut de la Vision, Paris, France Vasily SMIRNOV


11:52-12.02 OcGen45 Voretigene Neparvovec Gene Therapy to Treat RPE65-mutation-associated IRDs – Experience in German Centers UKB, Bonn; JLU, Giessen; UKT, Tübingen; LMU München, Germany Birgit LORENZ


12:02-12:12 OcGen104 Select strategies for gene agnostic approches to cone photoreceptor function preservation SparingVision Daniel CHUNG


12:12-12:22 OcGen31 The Phase III REFLECT Trial: Efficacy and Safety of Bilateral Gene Therapy for Leber Hereditary Optic Neuropathy (LHON) Ghent University Hospital, Ghent University, Ghent, Belgium Bart LEROY


12:30 to 13:30 – LUNCH

Session 2 – 13.30-16.00 hrs Symposium:
Gene Therapy (Nuclear Genes)

Bart P LEROY, Ghent & Philadelphia, PA – Introduction of the Jules François Lecturers

13.40-14.20 hrs Jean BENNETT & Albert M MAGUIRE – FRANÇOIS LECTURE:
Using Learnings from RPE65 Gene Therapy to Advance Treatments for Other Forms of Congenital Blindness

Moderators in person: Isabelle AUDO, Hélène DOLLFUS & Bart P LEROY
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

14.20 – 14.30 OcGenInvited4 Luxturna in Clinical Practice: The PERCEIVE Study Oxford and Tubingen Dominik FISCHER


14.30 – 14.40 OcGenInvited5 Optogenetics: The Generic Future? Paris & Pittsburgh José A SAHEL


14.40 – 14.50 OcGenInvited6 Untangling Phenotypes and Treating Severe Retinal Degenerations Philadelphia Tomas ALEMAN


14.50 – 15.00 OcGenInvited7 Intravitreal AAV-based Gene Therapies: XLRS Davis, CA Paul SIEVING (V)
15.00 – 15.10 OcGenInvited8 RNA Interference Treatment for CEP290-IRD Ghent & Philadelphia Bart P LEROY


15.10 – 15.20 OcGenInvited9 RNA Interference Treatment for USH2A-IRD Paris Isabelle S AUDO


15.20 – 15.30 OcGenInvited2 Expanding AAV Transfer Capacity in the Retina Naples Alberto AURICCHIO (V)
15.30 – 15.40 OcGenInvited3 CRISPR/Cas9 for Inherited Retinal Disease New York Steven S TSANG (V)

16.00 to 16.30 – COFFEE BREAK

16:30-18:30 hrs Ophthalmic Genetics 4
Grand Rounds ERN-EYE Transnational (GREET)
by the European Reference Network for Rare Eye Disease (ERN-EYE)

Moderators: Isabelle AUDO & Hélène DOLLFUS (in person)
& Elise HÉON & Elias I Traboulsi (virtual)
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

16:30-16:36 OcGen85 A Maculopathy in a Patient Diagnosed with a Rare Plurimalformative Overgrowth Syndrome CARGO Strasbourg Center of Reference – Hopitaux Universitaires de Strasbourg Andreea-Alexandra IONESCU (V)
16:36-16:42 OcGen46 Clinical Manifestations of the Non-Syndromic Subtype of MFSD8-associated Disease Ghent University Hospital, Ghent, Belgium Hwei Wuen CHAN


16:42-16:48 OcGen32 Optic nerve involvement in CACNA1F phenotype: observations in a multicentric case series AOU Meyer Childrens’ Hospital, Florence Giacomo Maria BACCI


16:48-16:54 OcGen16 A Novel Mutation in PIKfyve Causes a Multi-System Autosomal Dominant Disorder with Iris Transillumination Defects University of Alberta, Edmonton, Canada Ian MACDONALD


16:54-17:00 OcGen71 Atypical X-linked Retinoschisis Federal University of São Paulo – UNIFESP, Instituto Suel Abujamra – ISA Mariana DA PALMA (V)
17:00-17:06 OcGen25 Previously Unreported Regressive Flecked Retina Phenotype in a Case of Initially Misdiagnosed Senior-Loken Syndrome IRCCS Ospedale San Raffaele Alessia AMATO


17:06-17:12 OcGen9 Analysis of a next generation retinopathy panel detects chromosome 1 segmental uniparental isodisomy in a patient with RPE65-related Leber congenital amaurosis Federal University of São Paulo UNIFESP; Mendelics and Johns Hopkins University Juliana SALLUM (V)
17:12-17:18 OcGen87 Whole Exome Sequencing Identified Novel Homozygous ALMS1 Mutations in a Tunisian Family with Alström Syndrome Hedi Raies Institute of Ophthalmology, Tunis, Tunisia Asma HASSAIRI (V)
17:18-17:24 OcGen100 Atypical Electrophysiological Profile of a Missense Mutation in BEST1 Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA Rebecca SCHUR (V)
17:24-17:30 OcGen44 The Usher Syndrome 1B Spectrum Includes Mild Cases Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium Filip VAN DEN BROECK


17:30-17:36 OcGen94 Blue Cone Monochromatism with foveal hypoplasia caused by the concomitant effect of variants in OPN1LW/OPN1MW and GPR143 genes Bambino Gesù Children’s Hospital, Rome, Italy Giancarlo IAROSSI


17:36-17:42 OcGen55 Clinically diagnosed dominant cystoid macular dystrophy presenting with a peculiar phenotype IRCCS Ospedale San Raffaele, Milan, Italy Alessia AMATO


17:42-17:48 OcGen67 A Syndrome of Hearing Loss and FEVR in a Girl with Biallelic FZD4 variants Dalhousie University Sarah VAN DER ENDE (V)
17:48-17:54 OcGen3 Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient College of Medicine, King Saud University, Riyadh, Saudi Arabia. Basamat AL MOALLEM (V)
17:54-18:00 OcGen50 Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates Eye Institute, Cleveland Clinic Abu Dhabi; United Arab Emirates Arif O KHAN (V)
18:00-18:06 OcGen5 Macular dystrophies with secondary CNV – diagnosis and treatment 1Eye hospital, University Medical centre Ljubljana, Slovenia Martina JARC-VIDMAR


18:06-18:12 OcGen88 OCT-Angiography Assessing Quiescent and Active Choroidal Neovascularization In Retinitis Pigmentosa Associated with PRPH2 Pathogenic Variant Hedi Raies Institute of Ophthalmology, Tunis, Tunisia Emna OTHMANI (V)
18:12-18:18 OcGen8 Long-Term Results of Planned Preterm Delivery and Treatment of a Child with Norrie Disease Cincinnati Children’s Hospital Medical Center, Cincinnati Virginia MIRALDI UTZ (V)


Friday, September 3rd, 2021

Retinoblastoma Session 1 – 9:15-10:00 hrs
Diagnosis, Clinical Outcome and Second Cancers   

Moderators: Christina Stathopoulos and Annette Moll
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

9:15-9:22 Abstract Rb23 Imaging Phenotype of Retinoblastoma with MYCN Amplification without RB1 Mutation: a Multicenter Case Control Study Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, the Netherlands Christiaan de Bloeme (P)
9:22-9:29 Abstract Rb21 Results of a Second Multicenter Prospective French National Study on the Postoperative Treatment of Unilateral Retinoblastoma after Primary Enucleation Institut Curie Isabelle Aerts (V)
9:29-9.36 Abstract Rb43 Long Term Efficacy and Safety of Intravitreal Chemotherapy for Vitreous Seeding in Retinoblastoma Jules Gonin Eye Hospital Christina Stathopoulos (P)
9:36-9:43 Abstract Rb34 Long-Term Efficacy, Safety and Toxicity of Intracameral Chemotherapy for Spontaneous Primary and Secondary Aqueous Seeding in Retinoblastoma Hôpital Ophtalmique Jules-Gonin, Université de Lausanne,Switzerland Francis Munier


9:43-9:50 Abstract Rb11 Subsequent Malignant Neoplasms In The Pediatric Age In Retinoblastoma Survivors In Argentina Hospital JP Garrahan Gabriela Villanueva (V)

Retinoblastoma Session 2
10:00-11:00 hrs – 9:00-10:00 hrs  Biology and Dissemination

Moderators: Alexandre Moulin and Josephine Dorsman
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

10:00-10:20 Invited Speaker Description and clinical relevance of two molecular retinoblastoma subtypes Guillermo Chantada


10:20-10:27 Abstract Rb22 Preclinical Platform of Disseminated Retinoblastoma Consejo Nacional de Investigaciones Científicas y Técnicas – CONICET Santiago Zugbi (V)
10:27-10:34 Abstract Rb4 MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification Royal London Hospital, Barts Health NHS Trust, London M Ashwin Reddy (V)
10:34-10:41 Abstract Rb42 Pan-Cancer Insights for New Retinoblastoma Therapies Lunenfeld Tanenbaum Research Institute Rod Bremner (V)
10:41-10:48 Abstract Rb41 H3K27Ac profiling to elucidate the epigenetic identity of retinoblastoma Fondation Asile des Aveugles, University of Lausanne, Switzerland Adeline Berger (P)
10:48-10:55 Abstract Rb39 Multimodality Treatment Including Intra-Arterial Chemotherapy for Disseminated Retinoblastoma National Cancer Institute (Brazil) Nathalia Grigorovski (V)

11:00 to 11:30 – COFFEE BREAK

Retinoblastoma Session 3
11:30-12:30 hrs  Preclinical and early clinical research

Moderators: Manoj Parulekar and Yvan Arsenjevic
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

11:30-11:38 Abstract Rb15 Ocular and systemic safety of repeated intravitreal high doses of topotecan in rabbits: implications in retinoblastoma treatment. Hospital de Pediatria JP Garrahan, Argentina Paula Schaiquevich (V)
11:38-11:46 Abstract Rb16 High-throughput screening of drug libraries identifies a new synergistic drug combination for the treatment of retinoblastoma Ecole Polytechnique Fédérale de Lausanne (EPFL), Switzerland Po-Jen Tseng (P)
11:46-11:54 Abstract Rb19 Three-dimensional In Vitro Retinoblastoma Model to Evaluate Drugs in Combination with Focal Therapy Ecole Polytechnique Fédérale de Lausanne Irina Sinenko


11:54-12:02 Abstract Rb33 An Immunohistochemistry Panel as a Tool for Identifying Retinoblastoma Molecular Subtypes Hospital de Pediatría JP Garrahan Rosario Aschero (V)
12:02-12:10 Abstract Rb24 Phase I Retinoblastoma Trial of Sustained-Release Episceral Topotecan Hospital for Sick Children (SickKids) Brenda Gallie (V)
12:10-12:18 Abstract Rb40 Treatments Required for Retinoblastoma Following Experimental Chemoplaque Versus Standard Care The Hospital for Sick Children, University of Toronto, Canada Isabella Janusonis (V)

12:30 to 13:30 – LUNCH

13:30-14:30 hrs  Robert Ellsworth Lecture

Francis Munier, Lausanne – Introduction to the Robert Ellsworth Lecture

13.40-14.30 hrs David H ABRAMSON – ROBERT ELLSWORTH LECTURE: “Cell Free DNA in Retinoblastoma: What we know and what we don’t know in 2021”

Retinoblastoma Session 4
14:30-15:30 hrs  Minisymposium on liquid biopsies

Moderators: Lohmann Dietmar and Charlotte Dommering
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

13.40-14.30 Robert Ellsworth Lecture Cell Free DNA in Retinoblastoma: What we know and what we don’t know in 2021 Weill/Cornell Medical Center David H ABRAMSON (V)
14:30-14:38 Abstract Rb1 Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis Institut Curie Irene Jiménez (V)
14:38-14:45 Abstract Rb18 cf-DNA and EVs as Sources for Biomarkers for Early Detection of Second Primary Malignancies in Patients with Heritable Retinoblastoma University Hospital Essen and University Duisburg-Essen, Essen, Germany Nicole Barwinski


14:45-14:52 Abstract Rb30 Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers Department of Genetics, Institut Curie, Paris, France Lisa Golmard (V)
14:52-15:00 Abstract Rb2 The Aqueous Humor Liquid Biopsy for Diagnosis, Prognosis and Treatment monitoring of Retinoblastoma University of Southern California, CHLA Jesse Berry (V)
15:00-15:07 Abstract Rb20 Investigating the Aqueous Humor and tumor tissue of Naïve retinoblastoma eyes in a Next‐Generation Sequencing Panel for Pediatric Malignancies UNIFESP São Paulo, Brazil Luiz Fernando Teixeira (V)
15:07-15:14 Abstract Rb9 Proteomics of aqueous humor for biomarkers discovery in retinoblastoma Ospedale Pediatrico Bambino Gesù, Rome, Italy Angela Galardi (V)
15:30-16:00 Invited lecture Retinal Cell Types as a Basis for Ophthalmology in the 21st Century WHO Botond ROSKA


15.30-16.00 hrs Botond ROSKA – INVITED LECTURE: “Retinal Cell Types as a Basis for Ophthalmology in the 21st Century”

16.00 to 16.30 – COFFEE BREAK

Retinoblastoma Session 5
16:30-17:30 hrs  Retinoblastoma around the World

Moderators: Maja Beck-Popovic and Antonino Romanzo
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

16:30-16:50 Invited lecture WHO Global Initiative for Childhood Cancer: Retinoblastoma Priority Program and Collaborations WHO Sandra Luna-Fineman (V)
16:50-17:00 Invited lecture Retinoblastoma Survival: A Prospective Analysis of 4064 Patients from 149 Countries WHO Didi Fabian (V)
17:00-17:05 Abstract Rb5 AMCC program in subsaharan Africa AMCC Laurence Desjardin (V)
17:05-17:10 Abstract Rb31 Characterization of international partnerships in global retinoblastoma care and research: A network analysis. The Hospital for Sick Children, Toronto, Canada Helen Dimaras


17:10-17:15 Abstract Rb8 How Telemedicine and Centralized Care Changed the Natural History of Retinoblastoma in Jordan: Analysis of 478 Patients King Hussein Cancer Center, Amman, Jordan Yacoub A Yousef (V)
17:15-17:20 Abstract Rb17 MRI of retinoblastoma with orbital cellulitis and impact of inflammation on interpretation of metastatic risk factors Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam Marcus de Jong (P)
17:20-17:25 Abstract Rb3 At what age could screening for familial be discontinued? A systematic review. Amsterdam University Medical Centers Annette Moll



Saturday, September 4th, 2021

Session 5 – 9:00-10:20 hrs Ophthalmic Genetics 5
Consortia & Strategies in Ophthalmic Genetics

Moderators in person: Mark PENNESI & Alex LEVIN
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

9:00-9:08 OcGen13 Accelerating research in rare inherited retinal disorders (IRDs) through an international Consortium Oregon Health & Science University – Casey Eye Institute Mark Pennesi


9:08-9:16 OcGen30 Experiences of Genetic Testing Among Individuals With Retinitis Pigmentosa Thomas Jefferson University Emily Krauss (V)
9:16-9.24 OcGen54 Inherited Retinal Degeneration Genetic Testing Landscape Study Europe and Australia Retina International Orla Galvin (V)
9:24-9:32 OcGen12 FFB Consortium Gene Poll: An International Assessment of IRD Gene Distribution and IRD Clinical Practices Kellogg Eye Center -University of Michigan Kari Branham (V)
9:32-9:40 OcGen26 Practice Patterns and Needs Assessment of Ophthalmologists for Inherited Eye Disorders: Do we need a subspecialty as Ophthalmic Genetics? Gulhane Medical Facility, Ankara, Turkey Fulya Yaylacioglu (V)
9:40-9:48 OcGen33 Patient Pathways and Actors in Rare Eye Diseases: the French Example French rare sensory disease network SENSGENE CHRU Strasbourg, France Caroline Iberg


9:48-9:56 OcGen17 Can the low income countries have ocular gene therapy? University of Rochester Alex Levin


9:56-10.04 OcGen10 RPE65-related IRDs and gene therapy: a multicentre narrative medicine to investigate patients’, caregivers’, and physicians’ expectations University of Florence, Florence, Italy Giacomo Bacci


10:04-10.12 OcGen72 Telemedicine-Based Approach to Caring for Patients with Inherited Retinal Diseases: Patient Satisfaction and Diagnostic Testing Completion Rates Emory University School of Medicine Nieraj Jain (V)

10:20-11:00 hrs Ophthalmic Genetics 6
Anterior Segment & Ocular Surface & Development

Moderators in person: Ken NISCHAL & Christina GERTH-KAHLERT
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

10:20-10:26 OcGen59 Congenital Primary Aphakia Associated with Microphthalmia with Linear Skin Defects Syndrome (MLS) UPMC Children’s Hospital of Pittsburgh Ken Nischal


10:26-10:32 OcGen63 Absence/Hypoplasia of Extraocular Muscles Associated with Anterior Segment Dysgenesis University of Michigan Lev Prasov (V)
10:32-10.38 OcGen66 Identification of a Novel PRDM5 Mutation in a Family with Brittle Cornea Syndrome. Chulalongkorn University, Bangkok, Thailand Phattrawan Pisuchpen (V)
10:38-10:44 OcGen18 and other systemic manifestations of plasminogen deficiency, caused by variants in the PLG gene Charité-University Hospital Berlin, Germany Madlen Reschke


10:44-10:52 OcGen65 Linear Sebaceous Nevus Syndrome due to a Somatic KRAS A146T Variants UPMC Children’s Hospital of Pittsburgh Hannah Scanga


11:00 to 11:30 – COFFEE BREAK

11:30-12:30 hrs Ophthalmic Genetics 7
Optic Neuropathies & Strabismus

Moderators in person: Rola BA ABBAD & Guy LENAERS
(P) ‘In Person’ Podium  –  (V) ‘Virtual’ Podium 

11:30-11:36 OcGen21 Reversible Bilateral Vision Loss Mimicking Lhon In A Patient With Exacerbation Of Cystic Fibrosis And Opa3 Gene Mutation Eye Hospital, University Medical Centre Ljubljana, Slovenia Lea KOVAC (V)
11:36-11:42 OcGen103 Identifying New Candidate Genes In Patients With Hereditary Optic Neuropathy King Khaled Eye Specialist Hospital Rola BA-ABBAD


11:42-11.48 OcGen98 Is it LHON? Department of Ophthalmology Medical University Graz Katharina VALENTIN (V)
11:48-11:54 OcGen91 A Novel Homozygous Variant in HMBS is Associated with Optic Atrophy and Pyramidal Features University of Strasbourg, INSERM U1112 Génétique Médicale Louise F PORTER


11:54-12:00 OcGen97 Long-Term Follow-Up of Two Patients with LHON Caused by DNAJC30 Mutation Clinical Centre of Serbia, Belgrade, Serbia Sanja PETROVIC PAJIC


12:00-12:06 OcGen75 Autonomic Manifestations in Congenital Cranial Dysinnervation Syndromes Makati Medical Center, Makati City, Philippines Manuel Benjamin IBANEZ (V)
12:06-12:12 OcGen62 Carbonic Anhydrase II Deficiency: A Rare Cause of Infantile Optic Nerve Atrophy. Tallinn Children’s Hospital, Estonia; University of Helsinki, Finland Eva ROOMETS (V)
12:12-12:18 OcGen47 Phenotype analysis of 75 informative families of Indian origin with primary concomitant horizontal strabismus Lady Hardinge Medical College, University of Delhi, New Delhi, India Zia CHAUDURI (V)
12:18-12:24 OcGen58 Expanding the Phenotype of DNM1L-Related Autosomal Dominant Optic Atrophy (OPA5): Report of a Novel Variant with Early-onset Atrophy and Significant Intrafamilial Variability UPMC Children’s Hospital of Pittsburgh Hannah SCANGA


12:30 to 13:30 – LUNCH

Session 6 – 13.30-15.50 hrs
Symposium: Mitochondrial Genetics & Optic Neuropathies

13.30-13.40 hrs Elias I TRABOULSI, Cleveland, OH & Albert Franceschetti, Lausanne – Introduction of the Adolphe Franceschetti Franceschetti Lecturer

13.40-14.20 hrs Ian MACDONALD (in person) – FRANCESCHETTI LECTURE: Choroideremia – Lessons From Research and Clinical Trials

14.20-15.20 hrs Symposium: Mitochondrial Genetics & Optic Neuropathies

Moderators: Guy LENAERS & Andrea SODI 

14.20-14.35 OcGenInvited10 New Insights into Leber Hereditary Optic Neuropathy London & Cambridge Patrick YU-WAI-MAN (V)
14.35-14.50 OcGenInvited11 Gene Therapy for Leber Hereditary Optic Neuropathy Paris Cathérine VIGNAL-CLERMONT (V)
14.50-15.05 OcGenInvited12 New insights into Dominant Optic Atrophy Angers Guy LENAERS


15.05-15.20 OcGenInvited1 Dominant Optic Atrophy – Opportunities for Advanced Therapies University Hospital Wales Marcela VOTRUBA (V)

15.20 to 15.30hrs – Francis MUNIER, Lausanne
Au Revoir – End of Meeting


EURbG Meeting Lausanne 2021 – Programme

European Group of Retinoblastoma (EURbG) Meeting

Thursday, September 2nd, 2021                       Start at 11.30, end at 16.00

11.30   Introduction  EURBG chairs: Maja Beck-Popovic and Annette Moll

  • Welcome
  • EURBG update
  • EURBG papers policy
  • EURBG data & data commons
  • Collaboration

Start with feedback from WGs: 15 min presentation and 15 minutes discussion

    No study results at Thursday, please present at Friday in Rb session.

    • What happens last year?
    • How many WG members?
    • New WG leader?
    • Future plans.

    12.00   WG1: Conservative Therapy – Chairs: Francis Munier and Maja Beck-Popovic, Switzerland

     12.30-13.30 LUNCH

    13.30   WG2 : Non-Conservative Therapy – Chair: François Doz, France

    14.00   WG 3. Late Effects, Quality – Chair: Annette Moll, The Netherlands

    14.30   WG 4. Constitutional Mutation Analysis and Genomics, Basic Research, Tissue Banking –
    Chairs: Dietmar Lohmann and Petra Ketteler,  Germany

    15.00   WP7: Imaging/ERIC group – Chair: Pim de Graaf, The Netherlands

    15.30   WG5: Dissemination of the Project, Networking, Education and Web Resources –
    Chairs: Tomas Kepak, Czech Republic, Rejin Kebudi, Turkey, Manoj Parulekar and Helen Jenkinson, UK

                WG6: Parental Groups – Chair: Catherine Bothorel and Erika Leiman, France

     New working group leaders

     16.00 END OF EURBG meeting & COFFEE BREAK

    ISGEDR 2021 - Lausanne