ISGEDR Joint Meeting - Lausanne 2021 - Quicklinks

ISGEDR 2021 Lausanne – Oral Presentations

Ophthalmic Genetics 1 – Phenotypes & Genotypes
– Inherited Retinal Disorders

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. Sensgene Care Network, ERN-EYE network, France

Isabelle Meunier

Congenital Stationary Night Blindness Presenting without Night Blindness in Children. What Leads to Diagnostic Delays?

University of Iowa

Alina V Dumitrescu

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

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

Retrospective Analysis of Ocular Findings in Patients with Biallelic Mutations in CRB1

Columbia University, New York, NY

Irene H Maumenee

Sibling concordance in lesion growth rates in Stargardt disease using ultra-widefield fundus autofluorescence

Lions Eye Institute, Perth, WA, Australia

Rachael Heath Jeffery

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

Autosomal Recessive Bestrophinopathy in a Ghent Cohort

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium

Ine Strubbe

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, University in Caserta, Italy

Francesco Testa

Progression Of Outer Retinal Layer Structural Changes In CNGA3 And CNGB3 – Associated Retinopathy

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana

Nika Vrabic

Ophthalmic Genetics 2 – Mechanisms of Disease &
Preclinical Models in Ophthalmic Genetics

Polycomb Repressive Complex-2 contributes to rod photoreceptor death process in several forms of retinal degeneration

Hôpital Jules-Gonin, University of Lausanne

Yvan Arsenijevic

Shedding light on retina signaling by studying complete congenital stationary night blindness

Institute of Ophthalmology, University College of London, London

Helen Frederiksen

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

Towards the gene therapy for FAM161A associated retinitis pigmentosa in a mouse model

Jules-Gonin Eye Hospital and University of Lausanne

Ning Chang

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

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

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

Mouse Models for Dominant and Recessively Inherited NR2E3-linked Retinal Degenerations

Bern University Hospital; Department of BioMedical Research, University of Bern

Pascal Escher

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

National Eye Institute, Bethesda, MD

Robert Hufnagel

Ophthalmic Genetics 3 – Treatment of Inherited Retinal Disorders

Therapeutic Pipeline for Stargardt disease

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Hendrik Scholl

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

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

Select strategies for gene agnostic approches to cone photoreceptor function preservation


Daniel Chung

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

Session 2 – Symposium: Gene Therapy (Nuclear Genes)


Ghent & Philadelphia, PA

Introduction of the Jules François Lecturers



Using Learnings from RPE65 Gene Therapy to Advance Treatments for Other Forms of Congenital Blindness

Luxturna in Clinical Practice: The PERCEIVE Study

Oxford and Tubingen

Dominik Fischer

Optogenetics: The Generic Future?

Paris & Pittsburgh

José A Sahel

Untangling Phenotypes and Treating Severe Retinal Degenerations


Tomas Aleman

Intravitreal AAV-based Gene Therapies: XLRS

Davis, CA

Paul Sieving

RNA Interference Treatment for CEP290-IRD

Ghent & Philadelphia

Bart P Leroy

RNA Interference Treatment for USH2A-IRD


Isabelle S Audo

Expanding AAV Transfer Capacity in the Retina


Alberto Auricchio

CRISPR/Cas9 for Inherited Retinal Disease

New York

Steven S Tsang

Ophthalmic Genetics 4 – Grand Rounds ERN-EYE Transnational (GREET) by the European Reference Network for Rare Eye Disease (ERN-EYE)

A Maculopathy in a Patient Diagnosed with a Rare Plurimalformative Overgrowth Syndrome CARGO

Strasbourg Center of Reference – Hopitaux Universitaires de Strasbourg

Andreea-Alexandra Ionescu

Clinical Manifestations of the Non-Syndromic Subtype of MFSD8-associated Disease

Ghent University Hospital, Ghent, Belgium

Hwei Wuen Chan

Early diagnosis of CDG1-associated Retinopathy

Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France

Sabine Defoort-Dhellemmes

A Novel Mutation in PIKfyve Causes a Multi-System Autosomal Dominant Disorder with Iris Transillumination Defects

University of Alberta, Edmonton, Canada

Ian Macdonald

Atypical X-linked Retinoschisis

Federal University of São Paulo – UNIFESP, Instituto Suel Abujamra – ISA

Mariana da Palma

Previously Unreported Regressive Flecked Retina Phenotype in a Case of Initially Misdiagnosed Senior-Loken Syndrome

IRCCS Ospedale San Raffaele

Alessia Amato

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 Maria Sallum

Whole Exome Sequencing Identified Novel Homozygous ALMS1 Mutations in a Tunisian Family with Alström Syndrome

Hedi Raies Institute of Ophthalmology, Tunis, Tunisia

Asma Hassairi

Atypical Electrophysiological Profile of a Missense Mutation in BEST1

Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA

Rebecca Schur

The Usher Syndrome 1B Spectrum Includes Mild Cases

Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium

Filip Van Den Broeck

An Unusual Presentation of Blue Cone Monochromatism with Foveal Hypoplasia Caused by a Novel Variant in the OPN1LW Gene

Bambino Gesù Children’s Hospital, Rome, Italy

Giancarlo Iarossi

Clinically diagnosed dominant cystoid macular dystrophy presenting with a peculiar phenotype IRCCS

Ospedale San Raffaele, Milan, Italy

Alessia Amato

A Syndrome of Hearing Loss and FEVR in a Girl with Biallelic FZD4 variants

Dalhousie University

Sarah Van Der Ende

Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient

College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Basamat Almoallem

Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates

Eye Institute, Cleveland Clinic Abu Dhabi; United Arab Emirates

Arif O Khan

Macular dystrophies with secondary CNV – diagnosis and treatment

1Eye hospital, University Medical centre Ljubljana, Slovenia

Martina Jarc-Vidmar

OCT-Angiography Assessing Quiescent and Active Choroidal Neovascularization In Retinitis Pigmentosa Associated with PRPH2 Pathogenic Variant

Hedi Raies Institute of Ophthalmology, Tunis, Tunisia

Asma Hassairi and Emna Othmani

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

Retinoblastoma Session 1 –
Diagnosis, Clinical Outcome and Second Cancers

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

Results of a Second Multicenter Prospective French National Study on the Postoperative Treatment of Unilateral Retinoblastoma after Primary Enucleation

Institut Curie

Isabelle Aerts

Long Term Efficacy and Safety of Intravitreal Chemotherapy for Vitreous Seeding in Retinoblastoma

Jules Gonin Eye Hospital

Christina Stathopoulos

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

Subsequent Malignant Neoplasms In The Pediatric Age In Retinoblastoma Survivors In Argentina

Hospital JP Garrahan

Gabriela Villanueva

Retinoblastoma Session 2 – Biology and Dissemination

Description and clinical relevance of two molecular retinoblastoma subtypes

Guillermo Chantada

Preclinical Platform of Disseminated Retinoblastoma

Consejo Nacional de Investigaciones Científicas y Técnicas – CONICET

Santiago Zugbi

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

Pan-Cancer Insights for New Retinoblastoma Therapies

Lunenfeld Tanenbaum Research Institute

Rod Bremner

H3K27Ac profiling to elucidate the epigenetic identity of retinoblastoma

Fondation Asile des Aveugles, University of Lausanne, Switzerland

Adeline Berger

Multimodality Treatment Including Intra-Arterial Chemotherapy for Disseminated Retinoblastoma

National Cancer Institute (Brazil)

Nathalia Grigorovski

Retinoblastoma Session 3 – Preclinical and early clinical research

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

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

Three-dimensional In Vitro Retinoblastoma Model to Evaluate Drugs in Combination with Focal Therapy

Ecole Polytechnique Fédérale de Lausanne

Irina Sinenko

An Immunohistochemistry Panel as a Tool for Identifying Retinoblastoma Molecular Subtypes

Hospital de Pediatría JP Garrahan

María del Rosario Aschero

Phase I Retinoblastoma Trial of Sustained-Release Episceral Topotecan

Hospital for Sick Children (SickKids)

Brenda Gallie

Treatments Required for Retinoblastoma Following Experimental Chemoplaque Versus Standard Care

The Hospital for Sick Children, University of Toronto, Canada

Isabella Janusonis

Retinoblastoma Session 4 – Minisymposium on liquid biopsies

Francis Munier


Introduction to the Robert Ellsworth Lecture

Cell Free DNA in Retinoblastoma: What we know and what we don’t know in 2021

Weill/Cornell Medical Center


Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis

Institut Curie

Irene Jiménez

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

Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers

Department of Genetics, Institut Curie, Paris, France

Lisa Golmard

The Aqueous Humor Liquid Biopsy for Diagnosis, Prognosis and Treatment monitoring of Retinoblastoma

University of Southern California, CHLA

Jesse Berry

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

Proteomics of aqueous humor for biomarkers discovery in retinoblastoma

Ospedale Pediatrico Bambino Gesù, Rome, Italy

Angela Galardi

Retinal Cell Types as a Basis for Ophthalmology in the 21st Century


Botond ROSKA

Retinoblastoma Session 5 – Retinoblastoma around the World

WHO Global Initiative for Childhood Cancer: Retinoblastoma Priority Program and Collaborations


Sandra Luna-Fineman

Retinoblastoma Survival: A Prospective Analysis of 4064 Patients from 149 Countries


Didi Fabian

AMCC program in subsaharan Africa


Laurence Desjardin

Characterization of international partnerships in global retinoblastoma care and research: A network analysis.

The Hospital for Sick Children, Toronto, Canada

Helen Dimaras

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

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

At what age could screening for familial be discontinued? A systematic review.

Amsterdam University Medical Centers

Annette Moll

Session 5 – Ophthalmic Genetics 5 Consortia & Strategies in Ophthalmic Genetics

Accelerating research in rare inherited retinal disorders (IRDs) through an international Consortium

Oregon Health & Science University – Casey Eye Institute

Mark Pennesi

Experiences of Genetic Testing Among Individuals With Retinitis Pigmentosa

Thomas Jefferson University, University hospital in Philadelphia, Pennsylvania

Emily Krauss

Inherited Retinal Degeneration Genetic Testing Landscape Study Europe and Australia

Retina International

Orla Galvin

FFB Consortium Gene Poll: An International Assessment of IRD Gene Distribution and IRD Clinical Practices

Kellogg Eye Center -University of Michigan

Kari Branham

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

Patient Pathways and Actors in Rare Eye Diseases: the French Example French rare sensory disease network SENSGENE

CHRU Strasbourg, France

Caroline Iberg

Can the low income countries have ocular gene therapy?

University of Rochester

Alex Levin

RPE65-related IRDs and gene therapy: a multicentre narrative medicine to investigate patients’, caregivers’, and physicians’ expectations

University of Florence, Florence, Italy

Giacomo Bacci

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

Ophthalmic Genetics 6 – Anterior Segment & Ocular Surface & Development

Congenital Primary Aphakia Associated with Microphthalmia with Linear Skin Defects Syndrome (MLS)

UPMC Children’s Hospital of Pittsburgh

Ken Nischal

Absence/Hypoplasia of Extraocular Muscles Associated with Anterior Segment Dysgenesis

University of Michigan

Lev Prasov

Identification of a Novel PRDM5 Mutation in a Family with Brittle Cornea Syndrome.

Chulalongkorn University, Bangkok, Thailand

Phattrawan Pisuchpen

and other systemic manifestations of plasminogen deficiency, caused by variants in the PLG gene

Charité-University Hospital Berlin, Germany

Madlen Reschke

Linear Sebaceous Nevus Syndrome due to a Somatic KRAS A146T Variants

UPMC Children’s Hospital of Pittsburgh

Hannah Scanga

Ophthalmic Genetics 7 – Optic Neuropathies & Strabismus

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

Identifying New Candidate Genes In Patients With Hereditary Optic Neuropathy

King Khaled Eye Specialist Hospital

Rola Ba-Abbad

Is it LHON?

Department of Ophthalmology, Medical University Graz, Austria

Katharina Valentin

A Novel Homozygous Variant in HMBS is Associated with Optic Atrophy and Pyramidal Features

University of Strasbourg, INSERM U1112 Génétique Médicale

Louise F Porter

Long-Term Follow-Up of Two Patients with LHON Caused by DNAJC30 Mutation

Clinical Centre of Serbia, Belgrade, Serbia

Sanja Petrovic Pajic

Autonomic Manifestations in Congenital Cranial Dysinnervation Syndromes

Makati Medical Center, Makati City, Philippines

Manuel Benjamin Ibanez

Carbonic Anhydrase II Deficiency: A Rare Cause of Infantile Optic Nerve Atrophy.

Tallinn Children’s Hospital, Estonia; University of Helsinki, Finland

Eva Roomets

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

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

Session 6 – Symposium: Mitochondrial Genetics & Optic Neuropathies

Elias I Trauboulsi

Cleveland, Ohio

Introduction of the Adolphe Franceschetti Lecturer

FRANCESCHETTI LECTURE: Choroideremia – Lessons From Research and Clinical Trials

Alberta, Canada

Ian MacDonald

New Insights into Leber Hereditary Optic Neuropathy

London & Cambridge

Patrick Yu-Wai-Man

Gene Therapy for Leber Hereditary Optic Neuropathy


Cathérine Vignal-Clermont

New insights into Dominant Optic Atrophy


Guy Lenaers

Dominant Optic Atrophy – Opportunities for Advanced Therapies

University Hospital Wales

Marcela Votruba