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

Ophthalmic Genetics 1: Virtual Posters

Clinical and Genetic Characteristics of 38 Consecutive Patients with CRB1-associated Retinal Dystrophies

Hôpital Gui de Chauliac – Montpellier – France


Two Cases of CRB1-Related Retinal Dystrophy Associated with Retinal Masses

Wills Eye Hospital, Philadelphia, Pennsylvania

Nicholas BELLO

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

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

Very High Myopia Associated with RPGR Gene Variant

Aristotle University of Thessaloniki, Thessaloniki, Greece.

Asimina Mataftsi

Genetic and Clinical Characteristics of Slovenian Patients with RPGR-Associated Retinal Disorders

Eye Hospital, University Eye Hospital Ljubljana, Slovenia

Viasta Hadalin and Maša Buscarino

Genotype-Phenotype Correlation and Disease Modeling in RPGR-Related Retinal Dystrophies

Sorbonne Université, IInstitut de la Vision, Paris, France


Deep analysis of WGS data, strategy and algorithms

Sorbonne Université, IInstitut de la Vision, Paris, France


Natural History of Retinal Degeneration Associated With a Founder Mutation in the PDE6B Gene

University of Auckland, Auckland, New Zealand


Phenotype variability associated with mutations in the POC1B gene

University Hospital Zurich, University of Zurich, Zurich, Switzerland

Christina Gerth-Kahlert

Phenotypic and Molecular Characterization of Ocular and Systemic Features of DDX58-Related Singleton-Merten Syndrome.

University of Michigan


Insights from Imaging PRPH2 Phenotypes West Coast Retina Gp.

Vanderbilt Eye Institute


Association Between Phenotype and Serum Concentration of Vitamin A in Patients With P.G90D Variant in Rhodopsin Gene

Eye Hospital, University Clinical Center Ljubljana


Manifestation of Retinal Dystrophy in a child with TCIRG1-related Autosomal Recessive Osteopetrosis

Washington University School of Medicine, St. Louis MO

Hosannah EVIE

Identification of Dormant Cones in Subjects with Rod-Cone Dystrophy

CHNO des Quinze-Vingts, INSERM-DGOS CIC 1423, F-75012 Paris, France


USH2A Variants Spectrum in a French Cohort

Sorbonne Université, IInstitut de la Vision, Paris, France

Luiza Neves

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

Spectrum of Mutations in 11 Choroideremia Czech Patients

Charles University and the General University Hospital, Prague


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

Optic nerve involvement in CACNA1F phenotype: observations in a multicentric case series

AOU Meyer Childrens’ Hospital, Florence

Giacomo Maria Bacci

Achromatopsia in the Czech Republic: Mutational Spectrum and Clinical Findings

Charles University and General University Hospital, Prague, Czech Republic

Marie Vajter

Phenotype and Genotype of Inherited Retinal Disorders in Democratic Republic of Congo (DRC)

University of Kinshasa


Studying the Genetic Basis of Inherited Retinal Diseases (IRDs) in Greece: Preliminary Results

Aristotle University of Thessaloniki, Thessaloniki, Greece


Ophthalmic Genetics 4: Virtual Posters

A Novel RHO Mutation: Atypical Phenotype


Chloe Werner

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

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

Jalili Syndrome: a Novel Mutation – Phenotypic Expression

Clinique Jules Verne, Route de Paris 44300 NANTES


A case of early-onset retinal dystrophy associated with NEK1 gene mutations in siblings

Hamamatsu University School of Medicine


A novel GUCY2D missense mutation in a patient with Leber congenital amaurosis

Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh, India

Savleen KAUR

A Patient with a Mild Clinical Presentation of Joubert Syndrome due to Biallelic MKS1 Truncating Mutations

University of Campania Luigi Vanvitelli, Viale Abramo Lincoln, 5, 81100 Caserta CE, Italy


Retinoblastoma Session 1: Virtual Posters

Application of Ruthenium-106 brachytherapy plaque for residual or recurrent retinoblastoma after intra-arterial chemotherapy

Sant Joan de Déu Barcelona Hopital, Passeig de Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain

Alicia López de Eguileta

Intravitreal Melphalan Chemotherapy for Vitreous Seeds in Retinoblastoma

King Hussein Cancer Center, Amman, Jordan

Mona Mohammad

Different melphalan intravitreal dose in combined retinoblastoma polychemotherapy

National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine

Nadiia Bobrova

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

Vascular aspects and complications of intraarterial chemotherapy in children with retinoblastoma: a ten-year experience

Hospital CHUV, Lausanne, Switzerland

Maja Beck Popovic and Bastien Marti

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

Transpupillary Thermotherapy in Children with Retinoblastoma: Long-Term Results

National Medical Research Center Academician, Moscow, Russia

Denis Volodin

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

Advances in Treatment of Bilateral Retinoblastoma: 26-year Experience

Istanbul University, Oncology Institute, Pediatric Hematology-Oncology

Rejin Kebudi

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

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

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: Virtual Posters

Distant retrobulbar optic nerve infiltration in treated retinoblastoma: a case report

Hospital Ophthalmic Jules-Gonin – Fondation Asile Des Aveugles, Lausanne, Switzerland

Alexandre P. Moulin

Extended Surgical Interventions in Children with Retinoblastoma Invasion into the Optic Nerve

National Medical Research Centre of Oncology, Moscow, Russia

Tatiana Ushakova

Enucleation using high frequency electric welding in high risk retinoblastoma

National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine

Nadiia Bobrova

Retinoblastoma Session 5: Virtual Posters

Hurdles In Retinoblastoma Management In Uganda

Light For the World, Kampala, Uganda

Geoffrey Wabulembo

Ophthalmic Genetics 5: Virtual Posters

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

Strasbourg, France

Caroline Iberg

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

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: Virtual Posters

Genotype-Phenotype Spectrum in Patients with Novel Variants in the ADAMTSL4 Gene

University Hospital Zurich and University of Zurich, Zurich, Switzerland

Britta Brühwiler

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

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia

Federal University of São Paulo (UNIFESP), Brazil

Olivia Zin

Congenital Corneal Opacification in 22q Deletion Syndrome

UPMC Children’s Hospital of Pittsburgh

Ken Nischal

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

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: Virtual Posters

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


Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: From the Clinic to Genetics

Institut national de la santé et de la recherche médicale (INSERM), Paris, France

Beatrice BOCQUET

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