ISGEDR – Oslo 2025 – Recordings
DISCLAIMER: Presentations at the ISGEDR meeting are chosen by a meeting committee based on topics of interest to members. Content of presentations is the responsibility of each presenter and does not represent the opinions of ISGEDR.
Day 1 – SESSION 1: Opening Ceremony
1-000 - Welcome - Josephine Prener Holtan
Welcome – Josephine Prener Holtan
1-100 - Opening Ceremony - Francis Munier
1-100 – Opening Ceremony – Francis Munier
1-101 - Franceschetti Lecture - Graeme Black
1-101 – Franceschetti Lecture – Graeme Black
“The Guide is definitive. Reality is frequently inaccurate.” – Douglas Adams, The Hitchhiker’s Guide to the Galaxy
Day 1 – SESSION 2: Award & Travel Grant Recipients
1-102 - Leyla Yavuz Saricay
1-102 – Leyla Yavuz Saricay
Refractive Errors in Patients with Bardet Biedl Syndrome
1-103 - Caroline Atef Tawfik
1-103 – Caroline Atef Tawfik
Clinical and Genetic Characterization of IMPG2-Associated Retinopathy in an Egyptian Cohort
1-104 - Goura Chattannavar
1-104 – Goura Chattannavar
Homozygous R383H variant in IDUA gene causing Pericentric Retinitis Pigmentosa in attenuated Mucopolysaccharidosis Type I
1-105 - Piet Noë
1-105 – Piet Noë
Retinoblastoma treatment at a charitable eye hospital in Rwanda
1-106 - Mette Bertelsen
1-106 – Mette Bertelsen
A nationwide overview of the clinical and genetic landscape of inherited ocular disorders in Denmark
Day 1 – SESSION 3: Retinal Disorders & Ocular Development
107 - Hélène Dollfus
107 – Hélène Dollfus
Consensus-Based Revision of Diagnostic Criteria and Management for Bardet-Biedl Syndrome: Recommendations from European Reference Networks
1-108 - Arif O Khan
1-108 – Arif O Khan
A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram
1-109 - Beau J Fenner
1-109 – Beau J Fenner
How Does the Diagnosis of Inherited Retinal Disease Influence Reproductive Decision-Making in Singapore?
1-110 - Dorothy Wang
1-110 – Dorothy Wang
Clinical and Genetic Characterization of Inherited Retinal Diseases in a Diverse North American Cohort of Over 1,800 Cases
1-111 - Xènia Ferrer-Cortès
1-111 – Xènia Ferrer-Cortès
New insights on the genetic basis underlying hereditary high myopia in a cohort of more than 100 Spanish families
Day 1 – SESSION 4: Case Reports Retinal Disorders
1-113 - Brian P Brooks
1-113 – Brian P Brooks
Variants in NR6A1 cause a novel Oculo Vertebral Renal (OVR) syndrome
1-114 - Ulrika Kjellström
1-114 – Ulrika Kjellström
A case series: The description of a family with autosomal dominant KCNJ13 associated retinal dystrophy and a novel phenotype
1-115 - Ragnhild Wivestad Jansson
1-115 – Ragnhild Wivestad Jansson
A novel deletion in 3’UTR of the retina-specific isoform of RPGR leads to reduced expression of RPGR in a family with X-linked retinitis pigmentosa.
1-116 - Erlend C S Landsend
1-116 – Erlend C S Landsend
Substantial difference in ocular phenotype and follow-up of two patients with KIF11 -mutation
1-117 - Dong Hyun Jo
1-117 – Dong Hyun Jo
Clinical Characterization of NMNAT1 -Associated Leber Congenital Amaurosis in a Korean Cohort
1-118 - Laura Mauring
1-118 – Laura Mauring
Cone-Rod Dystrophy due to a Homozygous KIZ Variant
1-119 - Miriam Ehrenberg
1-119 – Miriam Ehrenberg
Patchy perifoveal chorioretinal atrophy related to a novel gene: C19ORF44
1-120 - Evangelia Panagiotou
1-120 – Evangelia Panagiotou
A rare case of RAB28 -related retinal disease due to complete uniparental isodisomy of chromosome 4
1-121 - Suma P Shankar
1-121 – Suma P Shankar
Micro RNA 204 (MIR204 ) as a novel cause of persistent pupillary membrane, high myopia, coloboma and lens opacity: a case study
Day 1 – SESSION 5: Case Reports Miscellaneous & Retinoblastoma
1-123 - Lucianna De Luca
1-123 – Lucianna De Luca
ACO2 -Related Retinal Disease: Expanding the Phenotypic Spectrum Beyond Optic Neuropathy
1-124 - Michelle Lingao
1-124 – Michelle Lingao
First case report of Wolfram Syndrome type 1 in the Philippines: Diagnostic challenges and discovery of a novel Exon 3 WFS1 heterozygous nonsense mutation
1-125 - Alena Egense
1-125 – Alena Egense
NBAS -related short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) presenting as early- onset optic atrophy
1-126 - Karthikeyan Arcot Sadagopan
1-126 – Karthikeyan Arcot Sadagopan
Microspherophakia, inguinal hernia, tortuous retinal vessels & facial dysmorphism as the presenting features in Six Indian Asian Children with Traboulsi syndrome and report of a novel pathogenic variant in the ASPH gene.
1-127 - Annamari Immonen
1-127 – Annamari Immonen
Phenotypically Mild Congenital Stromal Corneal Dystrophy in a Finnish Family Caused by a Novel Missense Variant c.1036T>C in the Decorin Gene
1-128 - Ana Ćurić
1-128 – Ana Ćurić
Giant Cyst of Dermis-Fat Graft Following Retinoblastoma Treatment Complicated with MRSA
1-129 - Khitam Fakhir
1-129 – Khitam Fakhir
An unexpected response of orbital retinoblastoma to inconsistent systemic chemotherapy alone. A case report
1-130 - Hiroyoshi Hattori
1-130 – Hiroyoshi Hattori
Three Case Reports of Retinoblastoma with Optic Nerve and CNS Invasion Treated with Multimodal Therapy Including Intrathecal and High-Dose Chemotherapy
1-131 - Małgorzata Danowska
1-131 – Małgorzata Danowska
Presumed bilateral ciliary body medulloepithelioma in a child with DICER1 syndrome and pleuropulmonary blastoma
Day 2 – SESSION 1: Ellsworth Lecture
2-101 - Ellsworth Lecture - Paula Schaiquevich
2-101 – Ellsworth Lecture – Paula Schaiquevich
Two decades of translational research in retinoblastoma
Day 2 – SESSION 2: Retinoblastoma Diagnosis & Awareness
2-102 - Judith Kingston Lecture - Maja Beck-Popovic
2-102 – Judith Kingston Lecture – Maja Beck-Popovic
Retinoblastoma: challenges of a rare disease
2-103 - Liesbeth Gardoen
2-103 – Liesbeth Gardoen
Guidelines on imaging of retinoblastoma : a 2025 update on behalf of the European Retinoblastoma Imaging Collaboration and the European Retinoblastoma Group
2-104 - Carme Julià
2-104 – Carme Julià
Leukocheck : a mobile app for the early detection of retinoblastoma
2-105 - Helen Dimaras
2-105 – Helen Dimaras
Uncertain heritable risk in retinoblastoma: Classification of genetic testing results for precision risk stratification
2-106 - Ashwin Mallipatna
2-106 – Ashwin Mallipatna
Construction and validation of 3D-printed eyeball models in red reflex training of medical students
2-107 - Doris Hadjistilianou
2-107 – Doris Hadjistilianou
Bilateral retinoblastoma and inner ear common cavity malformation : A novel association?
2-108 - Rebecca Clark
2-108 – Rebecca Clark
Novel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effect
Day 2 – SESSION 3: Ophthalmic Genetics – General Category
2-109 - Alex V Levin
2-109 – Alex V Levin
The Role of Orbis in Enhancing Worldwide Education in Ocular Genetics
2-110 - Hannah L Scanga
2-110 – Hannah L Scanga
Quantifying the Clinical Utility of Genetic Testing for Inherited Retinal Dystrophies to Inform Genetic Counseling
2-111 - Sandra Staffieri
2-111 – Sandra Staffieri
There’s more to Leber Hereditary Optic Neuropathy than vision impairment: listening to everyone’s voice
2-112 - David A Mackey
2-112 – David A Mackey
Detection of low-penetrance Leber Hereditary Optic Neuropathy (LHON) mtDNA variants in the general population
2-113 - Faeeqah Almhmoudi
2-113 – Faeeqah Almhmoudi
Posterior Microphthalmia related to PRSS56 Variants in a Saudi Cohort: A Longitudinal Study of Visual Function
2-114 - Petra Ketteler
2-114 – Petra Ketteler
Genetic predisposition to melanoma of the choroid and ciliary body
2-115 - Mohamed H Abdel-Rahman
2-115 – Mohamed H Abdel-Rahman
Genetic Predisposition to uveal melanoma
Day 2 – SESSION 4: Mini-symposium – Therapies for IRDs I
2-116 - Mini Symposium - Bart Leroy
2-116 – Mini Symposium – Bart Leroy
Overview of therapeutic innovations in IRDs: Gene-specific
Moderator: Mark Pennesi
Panelists: Bart Leroy, Aniz Girach, Zuhul Butuner, Jayashree Sahni, Tomas Aleman, Martin Smedstad,
Meghan J DeBenedictis
Day 2 – SESSION 5: Mini-symposium – Therapies for IRDs II
2-117 - Mini Symposium - Isabelle Audo
2-117 – Mini Symposium – Isabelle Audo
Overview of therapeutic innovations in IRDs: Gene-agnostic
Moderator: Mark Pennesi
Panelists: Katherine High, Daniel Chung, Peter Francis, Kali Stasi, Isabelle Audo, Bart Leroy, Martin Smedstad, Meghan J DeBenedictis
Day 2 – SESSION 6: IRD – Gene Therapy,
Natural history & Outcome Measures
2-118 - Ragnheiður Bragadóttir
2-118 – Ragnheiður Bragadóttir
Special Lecture: Gene Therapy: From Experimental Research to Clinical Application
2-119 - Jasmina Cehajic-Kapetanovic
2-119 – Jasmina Cehajic-Kapetanovic
Special lecture: Gene therapy delivery
2-120 - Brittni Scruggs
2-120 – Brittni Scruggs
Retinal Gene Therapy Using Epiretinal AAV-Containing Fibrin Hydrogel Implants
2-121 - Leonardo Colombo
2-121 – Leonardo Colombo
Characterizing PRPF31-related Retinal Dystrophy: Clinical Insights from Baseline Data in a Natural History Study
2-122 - Kiyoko Gocho
2-122 – Kiyoko Gocho
Progression Assessment with OCT and Adaptive Optics: A Subset Analysis of the KEYS study
2-123 - Kirk Stephenson
2-123 – Kirk Stephenson
Quantitative Choroidal Analysis in Molecularly Characterized Retinitis Pigmentosa
2-124 - Peter Francis
2-124 – Peter Francis
Efficacy Testing Facility for Low Vision Patients, the Vision Research and Assessment Institute “VRAI”
2-125 - Veronika Vaclavik
2-125 – Veronika Vaclavik
RP2 -Associated Rod Cone Dystrophy in Females Carriers: A Spectrum of Severity and follow up of 10 years
2-126 - Brooke Koritala
2-126 – Brooke Koritala
Eye-Related Quality of Life in Children with Inherited Retinal Diseases Using PedEyeQ
2-127 - Said El Shamieh
2-127 – Said El Shamieh
Copy-number variation significantly contributes to the pathogenicity of inherited retinal diseases in Lebanon
Day 2 – SESSION 1: Electrophysiology Workshop
2-201 - Bart Leroy
2-201 – Bart Leroy
Introduction to electrophysiology techniques (generalised response; ffERG, flash VEP, FST)
2-202 - Carlos E Mendoza-Santiesteban
2-202 – Carlos E Mendoza-Santiesteban
Introduction to electrophysiology techniques (localized response; mfERG, Pattern ERG, pattern VEP
2-203 - Arlene Drack
2-203 – Arlene Drack
Introductory cases pediatrics
2-204 - Juliana Maria Ferraz Sallum
2-204 – Juliana Maria Ferraz Sallum
Introductory cases adults
2-207 - Bart Leroy
2-207 – Bart Leroy
Challenging case 1
2-208 - Carlos E Mendoza-Santiesteban
2-208 – Carlos E Mendoza-Santiesteban
Challenging case 2
2-209 - Alina V Dumitrescu
2-209 – Alina V Dumitrescu
Challenging case 3
Day 2 – SESSION 2: Retinoblastoma Treatment
2-210 - David H Abramson
2-210 – David H Abramson
High dose Topotecan (90-180µG) for recurrent retinal and subretinal retinoblastoma
2-211 - Sam Gurney
2-211 – Sam Gurney
High dose intravitreal topotecan; a new therapy for retinal disease
2-212 - Francis Munier
2-212 – Francis Munier
High dose intravitreal Topotecan monotherapy for aqueous seeding, subretinal seeding and retinal relapse
2-213 - Joe Abbott
2-213 – Joe Abbott
Intra-arterial chemotherapy: comparing techniques, does safety come at the cost of efficacy?
2-214 - Ida Russo
2-214 – Ida Russo
Early results of the national AIEOP RTB018 protocol
2-215 - Christina Stathopoulos
2-215 – Christina Stathopoulos
Risk factors for rhegmatogenous retinal detachment after intraarterial chemotherapy in endophytic retinoblastoma
Day 2 – SESSION 3: Retinoblastoma Metastatic Disease & Quality of Life
2-216 - Hind M Alkatan
2-216 – Hind M Alkatan
Adjuvant chemotherapy in treating retinoblastoma: Validation and controversies
2-217 - Ida Russo
2-217 – Ida Russo
Long-Term (>5-Year) remission and survival after immunotherapy with anti-GD2 monoclonal antibody dinutuximab Beta following autologous hematopoietic stem cell transplantation in a child with metastatic retinoblastoma
2-218 - Yan Honggai
2-218 – Yan Honggai
Retinoblastoma patients died without high pathology Risk Factors
2-219 - Ashwin Reddy
2-219 – Ashwin Reddy
EURBG survey on mortality at Retinoblastoma Centres in Europe 2012-2022 : Part 1 metastatic disease from retinoblastoma
2-220 - Livia Lumbroso-Le Rouic
2-220 – Livia Lumbroso-Le Rouic
EURBG survey on mortality at retinoblastoma centres in Europe 2012-2022 : Part 2 non metastatic deaths
2-221 - Emma Hughes
2-221 – Emma Hughes
Supporting the psychosocial needs throughout the patient journey – The role of the play specialist.
2-222 - Annette Moll
2-222 – Annette Moll
Visual outcome of retinoblastoma patients in the Netherlands : a cohort study
2-223 - Anne Vestli
2-223 – Anne Vestli
Retinoblastoma in Norway : Health-related quality of life and late effects
Day 2 – SESSION 4: Retinoblastoma Liquid Biopsy,
Biomarkers & Research
2-225 - Liya Xu
2-225 – Liya Xu
Extracellular Vesicles in the Aqueous Humor: A Novel Avenue for Retinoblastoma Research and Clinical Management
2-226 - Claudia Román-Montañana
2-226 – Claudia Román-Montañana
Clinical variables associated with cell-free DNA yield obtained by anterior chamber tap in retinoblastoma
2-227 - Alexandre Matet
2-227 – Alexandre Matet
Aqueous humor cfDNA exploration in retinoblastoma can be superior to tumor DNA analysis: a case series
2-228 - Amy Gerrish
2-228 – Amy Gerrish
Genetic diagnosis of retinoblastoma via post chemotherapy anterior chamber tap
2-230 - Tatsiana Ryl
2-230 – Tatsiana Ryl
Collaborative study to identify Biomarkers to adjust treatment intensity for children with Retinoblastoma (CoBioRB) – A pilot study for the multicentre clinical trial EURBG2
2-231 - Lisa Golmard
2-231 – Lisa Golmard
Prognostic value of molecular markers in unilateral retinoblastoma treated by first-line enucleation
2-232 - Luigi Mazzeo
2-232 – Luigi Mazzeo
Mapping Retinoblastoma Heterogeneity with Spatially Resolved Transcriptomics
2-233 - Sima Das
2-233 – Sima Das
Circulating cell-free tumor DNA-Based Liquid Biopsy of Cerebrospinal Fluid (CSF) in retinoblastoma
2-234 - Sima Das
2-234 – Sima Das
Spatial Transcriptomics to Identify Differentially Expressed Genes in high-risk factor-positive Retinoblastoma versus Non-Aggressive Disease
Day 3 – SESSION 1: Mini-symposium – Corneal Genetics;
Diagnosis and Management
3-101 - Alice Davidson
3-101 – Alice Davidson
Novel genes and disease mechanisms cornea dystrophies
3-102 - Andrea L. Vincent
3-102 – Andrea L. Vincent
Innovations in corneal dystrophy treatments
3-103 - Dimitri Roels
3-103 – Dimitri Roels
Syndromic diseases with corneal manifestations
3-105 - Liv Drolsum
3-105 – Liv Drolsum
Current clinical management of corneal dystrophies
Day 3 – SESSION 2: Anterior Segment
3-106 - Jennifer L Rossen
3-106 – Jennifer L Rossen
Purpose: To investigate genetics and outcomes in Axenfeld-Rieger Syndrome (ARS)
3-107 - Andy Drackley
3-107 – Andy Drackley
Updates on the ClinGen Pediatric Cataract VCEP’s CYP27A1 Guidelines Development
3-108 - Lev Prasov
3-108 – Lev Prasov
RIGI variants cause a treatable glaucoma in humans and mice
3-109 - Meghal Gagrani
3-109 – Meghal Gagrani
Phenotypic and genotypic characterization of Posterior polymorphous corneal dystrophy in children : a 13 year clinical review
Day 3 – SESSION 3: Francois Lecture
3-110 - Francois Lecture - Irene H Maumenee
3-110 – Francois Lecture – Irene H Maumenee
Six decades of ophthalmic genetics
Day 3 – SESSION 4: Treatment for IRDs
3-111 - Elias Traboulsi
3-111 – Elias Traboulsi
Oral Gildeuretinol Slows Disease Progression in Early Stargardt Disease: Updates from the TEASE-3 Study
3-113 - Tomas S. Aleman
3-113 – Tomas S. Aleman
Recovery of Cone-Mediated Vision in Severe Ciliopathies after Gene Therapy: One Year Results of a Phase I/II Trial for LCA5-LCA
3-114 - Valentina Di Iorio
3-114 – Valentina Di Iorio
LUCE-1: a phase 1/2, dose escalation, safety and efficacy study of administration of AAVB-081 gene therapy in Usher Syndrome type 1B (USH1B)
3-115 - Alina V Dumitrescu
3-115 – Alina V Dumitrescu
Intravitreal Enzyme Replacement Therapy for Children with Neuronal Ceroid Lipofuscinosis Type 2, The University of Iowa experience
3-116 - Josephine Prener Holtan
3-116 – Josephine Prener Holtan
A Phase 1B Multiple Ascending Dose Study of VP-001; a peptide conjugate of oligonucleotide designed to treat PRPF31 -related Retinitis Pigmentosa
3-117 - Mark Pennesi
3-117 – Mark Pennesi
Subretinal gene therapy laru-zova for X-linked retinitis pigmentosa (XLRP): Phase 2 DAWN Trial, preliminary month 9+ results
3-118 - Bart Leroy
3-118 – Bart Leroy
RNA-based therapy in Leber congenital amaurosis type 10 (LCA10): key lessons learned from the randomized double-masked, sham-controlled Phase 3 study of sepofarsen
Day 3 – SESSION 5: Retinal Dystrophies & Electrophysiology
3-120 - Virginie MM Buhler
3-120 – Virginie MM Buhler
Genetic landscape of inherited retinal diseases in Switzerland: identification of prevalent pathogenic heterozygous variant causing autosomal dominant IRDs
3-121 - Andrea L Vincent
3-121 – Andrea L Vincent
Genetic Drift and Founder Effects in CYP4V2 and PRPH2 -associated Inherited Retinal Disease Among Pasifika in Oceania
3-122 - Lotta Gränse
3-122 – Lotta Gränse
A case series: Multifocal Electroretinography (mfERG) for evaluation of macular function in children under four
3-123 - Alessio Amato
3-123 – Alessio Amato
Negative Electroretinograms Beyond Congenital Stationary Night Blindness: Broadening the Differential Diagnosis of Post-Phototransduction Inherited Retinal Diseases
3-123-2 - Juliana Maria Ferraz Sallum
3-123-2 – Juliana Maria Ferraz Sallum
Microperimetry, a valuable tool for assessing changes in visual function following voretigene neparvovecrzyl gene therapy
Day 3 – SESSION 6: IRDs – Mechanisms & Treatments
3-124 - Magnar Bjørås
3-124 – Magnar Bjørås
Special lecture: Disease modelling and preclinical testing in retinal organoids derived from Childhood dementia CLN3 patients
3-125 - Arlene Drack
3-125 – Arlene Drack
Subretinal gene therapy rescues cones >rods in a mouse model of Bardet-Biedl Syndrome Type 10
3-126 - Carlotta Librasi
3-126 – Carlotta Librasi
A novel RNA therapeutic platform for Retinitis Pigmentosa 11
3-127 - Maya Helms
3-127 – Maya Helms
A murine model of microcephaly and chorioretinopathy reveals the importance of TUBGCP4 in vascular development
3-128 - Paula Gaudó
3-128 – Paula Gaudó
Deep characterization of mutant and CRISPR-corrected PDE6A and PDE6C retinal organoids derived from IRD patients
3-129 - Pascal Escher
3-129 – Pascal Escher
To identify molecular mechanisms underlying NR2E3-linked retinal degenerations in murine knock-in models
3-130 - Rola Ba-Abbad
3-130 – Rola Ba-Abbad
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness
3-131 - Josephine Prener Holtan
3-131 – Josephine Prener Holtan
AAVB-039: A dual AAV8.ABCA4 gene therapy for patients with Stargardt’s disease (STGD1)
Day 3 – SESSION 1: Retinoblastoma Workshop
3-201 - Eleanor Hay
3-201 – Eleanor Hay
The role of genetic counselling in retinoblastoma
3-202 - Manoj Parulekar
3-202 – Manoj Parulekar
Clinical presentation and Diagnosis
3-203 - Christina Stathopoulous
3-203 – Christina Stathopoulous
Treatment modalities of intraocular retinoblastoma
3-204 - Amy Gerrish
3-204 – Amy Gerrish
The applications of cell-free DNA analysis.
3-205 - François Radvanyi
3-205 – François Radvanyi
Molecular risk factors for retinoblastoma
Day 3 – IRD Patient Session
3-206 - Sigrid Bratlie
3-206 – Sigrid Bratlie
Introduction to genetic treatments – Norwegian
3-207 - Magnar Bjørås
3-207 – Magnar Bjørås
Patient-derived retinal organoids – Norwegian
3-208 - Daniel Chung
3-208 – Daniel Chung
Gene-agnostic treatments – English
3-209 - Tomas Aleman
3-209 – Tomas Aleman
Clinical trial design and outcome measures – English
Day 3 – IRD Patient Session
3-212 - Meghan DeBenedictis
3-212 – Meghan DeBenedictis
Keynote Lecture: Current research status and remaining challenges for treatment of inherited retinal disorders – English
3-211 - Bart Leroy with Elias Traboulsi
3-211 – Bart Leroy with Elias Traboulsi
Keynote Lecture: Current research status and remaining challenges for treatment of inherited retinal disorders – English
Program
We are excited to announce the ISGEDR 2025 Oslo program!
This year’s meeting will feature a diverse and dynamic lineup of speakers and sessions, including the prestigious named lectures: the Franceschetti Lecture, Ellsworth Lecture, Judith Kingston Lecture, and François Lecture. The program also includes paper and poster sessions, cases, mini-symposiums, patient sessions, and the EURBG Business Meeting - all highlighting the latest developments in the field.
While most of the schedule is now available, a few details are still being finalised. We encourage you to check back regularly to download the most up-to-date version of the program.
We look forward to welcoming you to an engaging and inspiring meeting in Oslo!
Sponsors
The content of this meeting is independent of commercial interests
Any conflict of interest by the scientific organizers or the presenters will be disclosed in the related presentations, in the meeting proceedings, and on the meeting website.
Donations and support from Research organizations and Patient organization:
- The Research Council of Norway
- The Norwegian Retinitis pigmentosa patient organization














