São Paulo, Brazil 2023 – Final Programme
ISGEDR Meeting – São Paulo, Brazil 2023 – Register NOW
ISGEDR Meeting – Final Programme
July 6th – Thursday Morning
Auditorium
8:00 Registration
8:30 – 9:00 Opening – Francis Munier, Elias Traboulsi, Bart P Leroy, Eduardo Silva and Juliana Sallum
Welcome from UNIFESP – Ivan Maynart, Denise de Freitas and Rubens Belfort
From phenotyping and genotyping to natural history, clinical trials and access to treatment in Brazil – Juliana Sallum
9:00 – 10:00 Basic and Clinical Genetics for Ophthalmologists
Moderators: Bart P. Leroy and Frans Cremers
9:00 Overview of Basic and Clinical Genetics for Ophthalmologists – Bart P Leroy
9:20 High throughput technologies to identify retinal disease-associated variants – Frans Cremers 9:40 Bioinformatic Analysis and Variant Classification – Robert Hufnagel
10:00 – 10:30 Genetic Counselling and Molecular Genetics
Moderators: Monica Barbosa de Melo, Ana Beatriz Alvarez Perez and Hannah L. Scanga
10:00 The Genetic Counselor Workforce in Inherited Retinal Disease Clinics – Molly Marra
10:10 Transcriptome analysis as a tool for the comprehension of disease mechanisms: The example of sickle cell retinopathy- Mônica Barbosa de Melo
10:20 Coats plus syndrome in a Brazilian patient with a novel CTC1 pathogenic mutation – Giulia Steuernagel Del Valle
10:30 – 11:00 Break
11:00 – 11:30 Patient’s voice
Moderators: Cecilia Vasconcelos, Maria Antonieta Leopoldi and Marina Leite
11:00 Gustavo Serrano
11:07 Christina Fasser
11:30 – 12:30 Jules François Lecture
10 min Introduction of the Jules François Lecturers – Bart P Leroy 40 min
11:14 Beyond Endpoints and Outcomes: The stunning competitive edge of blindness no one saw coming – Eric
Hartman and Kristin Smedly
How three recent discoveries in ABCA4-associated retinopathies shed light on the genetically unsolved inherited retinal diseases – Frans Cremers
Department of Human Genetics at the Radboud University Medical Center in Nijmegen, The Netherlands.
Full professor in Molecular Biology of Genetic Eye Diseases.Work focused on the genomic and transcriptomic landscape of ABCA4-associated retinopathies and allied maculopathies
10 min Questions
12:30- 14:00 Lunch
July 6th – Thursday Afternoon
Auditorium
14:00 – 16:00 Genetics: Anterior Segment and Glaucoma
Moderators: Simone Finzi, Bronwyn Bateman and Eduardo Silva
14:00 Genetics in Glaucoma: Brazilian findings and perspectives – José Paulo Cabral de Vasconcellos
14:10 CYP1B1 Cytopathy: A Further Report of Phenotypic Variability – Meghal Gagrani
14:20 Evaluation of genetic variants associated with primary open-angle glaucoma in a South and Southeastern Brazilian cohort – Thiago Adalton Rosa Rodrigues
14:27 FOXP4, a novel candidate gene for angle closure glaucoma – William Presley
14:34 PAX6 missense variants in a Brazilian family with atypical aniridia: minor iris changes as a potential – diagnostic indicator – Priscila Monaro Bianchini
14:41 Posterior Segment Findings in FOXC1-related Axenfeld- Rieger Syndrome – Hannah L. Scanga
14:48 Gillespie Syndrome Caused by a Novel ITRP1 Gene Variant – A Phenotype-Genotype Correlation – Meghal Gagrani
14:58 Clinical ophthalmological and genetical characteristics of 27 Brazilian families with familial pediatric Cataract – Olivia Araujo Zin
15:08 Nance-Horan Syndrome Caused by a Partial NHS Duplication – Catalina Feistritzer and Ken K. Nischal
15:18 Defining novel genes and noncoding variants in nanophthalmos using gene regulatory networks- Lev Prasov
15:28 Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients – Rebeca Azevedo Souza Amaral
15:38 Misdiagnosis of Corneal Dystrophies in Children: A 10- Year Experience – Ken K. Nischal
15:48 Gene Variant Spectrum in Probands with Familial Exudative Vitreoretinopathy – Johane Robitaille
16:00 – 16:30 Break
16:30 – 18:00 Genetics: Retinal Phenotypes
Moderators: Kari Branham, Fernanda Porto and Alex Levin
16:30 Genotypes and ERG phenotypes in ARR3-mutation- associated early-onset high myopia (MYP26) – Mirella Barboni
16:37 Missense mutation in LRP5 in a patient with familial exudative vitreoretinopathy (FEVR) – Maria Frasson
16:44 Retinal Sensitivity in KCNV2-associated Retinopathy – Thales A. C. de Guimaraes
16:51 RTN4IP1: Optic Atrophy, Rod-Cone Dystrophy, or Both? – Alejandra Antacle
17:01 Phenotypic and genotypic spectrum of pericentral retinitis pigmentosa due to HGSNAT – Mariana Matioli da Palma
17:11 Phenotypic description of MORC2-related retinal dystrophy – Kari Branham
17:21 Development of a full-field two-color dark-adapted perimetry protocol using an unmodified perimeter – Alessia Amato
17:28 ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome: report of the ocular features – Laryssa Huryn
17:35 ROSAH syndrome – Filip Van den Broeck (Recorded)
17:42 CERKL related inherited retinal dystrophy in a Brazilian population – Erika Yasaki
17:49 Ophthalmic Findings in Alström Syndrome – Diego I. Paredes Jalil
17:56 Vision loss with nyctalopia, microcephaly and lymphedema in patients with rare KIF11 mutations – Maja Kostic
Room 2AB
14:00 -16:00 – Retinoblastoma (RB) Genetics and Liquid Biopsy
Moderators: David Cobrinik and Francis Munier
14:00 Molecular alterations in Retinoblastoma beyond RB1 – Evandro Lucena
14:15 Retinoblastoma caused by RB1 Promoter Methylation from X-inactivation in Child with a Mosaic X;13 Translocation – Ashwin Mallipatna
14:30 Retinoblastoma and 13q deletion: Clinical characterization of 3 patients with different evolutions – Leonardo Buffolo
14:45 Assessment of RB1 pathogenic variant detection and cell-free DNA concentration in aqueous humor – findings from an extended retinoblastoma cohort – Amy Gerrish
15:00 Extracellular vesicles in diagnostic retinoblastoma aqueous humor correlate with disease stage and clinical outcome: A pilot study – Liya Xu (Recorded)
15:15 An integrated approach to study genomics and epigenomics of retinoblastoma from cell-free DNA in the aqueous humor – Francesca Cancellieri
15:30 Diagnosis and general care of Patients with Xeroderma Pigmentosum in Brazil: a cross-sectional Study – Alléxya Affonso Antunes Marcos
15:45 Panel discussion: Future of RB genetics and how to bring research closer to the clinic in all continents (David Cobrinik, Francis Munier)
16:00 – 16:30 Break
16:30 – 18:00 – RB Clinical cases discussion
Moderators: Dan Gombos and Luiz Fernando Teixeira
Discussion: Eduardo Marback, Evandro Lucena, Carla Macedo and Guillermo Chatada
Cases presenters:
16:30 Ashwin Mallipatna
16:45 Monique Mangeon
17:00 Nathalia Grigorovski
17:15 Christina Stathopoulos
17:30 Diego Ossandon
17:45 Claudia Sampor
July 7th – Friday Morning
Auditorium
8:30 – 9:30
Tribute to A. Linn Murphree
Retinoblastoma Course
Moderators: Francis Munier and Eduardo Marback
8:30 Tribute to A. Linn Murphree – Francis Munier
8:35 Genetics of Retinoblastoma – David Cobrinik
8:50 Diagnosis of Retinoblastoma – Christina Stathopoulos
9:00 Conservative management of retinoblastoma – Francis Munier
9:15 Role of liquid biopsies – Jesse Berry (Recorded)
10:20 Panel discussion
11:00 -11:30 Retinoblastoma
Moderators: Evandro Lucena and Claudia Sampor
11:00 Building Collaboration Between Retinoblastoma Programs in Angola and Brazil Through Educational Initiatives and Angolan Data Analysis – Nathalia Grigorovski
11:10 Study of Information Available About Leukocoria and Retinoblastoma to Information-Seeking Parents on ChatGPT and AI Apps – Ashwin Mallipatna
11:20 SWIMMERRB: Objective Research Outcome Assessment Tool for Retinoblastoma – Brenda Gallie (Recorded)
11:30 – 12:30 Ellsworth Lecture
11:30 – 11:40 Introduction of the Ellsworth Lecturers – Francis Munier
11:40 – 12:20 Retinoblastoma Origins and Trajectories – David Cobrinik
The Vision Center and The Saban Research Institute, Children’s Hospital Los Angeles Departments of Ophthalmology and Biochemistry & Molecular Medicine
The USC Roski Eye Institute and Norris Comprehensive Cancer Center
Keck School of Medicine, University of Southern California
12:20 – 12:30 Questions
12:30 – 14:00 Lunch
Room 2AB
Cubo Open Program (Portuguese)
8:30 – 10:30 Deficiência visual – Inovações para Acessibilidade e Inclusão (Português)
Moderators: Cecília Vasconcelos, Marina Leite, Maria Rita Spina Bueno
Convidados: Comunidade Cubo
8:30 Introdução – Maria Rita Spina, Maria Julia Araújo e Angela Sousa
8:45 Inovações ópticas – Claudinei Custódio
9:00 O impacto da Deficiencia Visual – Cecilia Vasconcelos
9:20 A tecnologia a serviço da acessibilidade –Experiência do usuário – Cesar Siboglo
9:40 Inovaçao Inclusão e Diversidade – Marina Leite
10:00 -10:30 Discussão: Pensando junto com o Cubo
10:30 – 11:00 Break
11:00 – 12:30 Patient Associations
11:00 – Welcome to Patient associations – Maria Julia da Silva Araujo, Roseli de Souza Oliveira and Christina Fasser
5 min to Present your association
11:10 Retina São Paulo – Roseli de Souza Oliveira
11:15 Retina Brasil – Angela Sousa
11:20 Fundación Lucha contra la Retinitis Pigmentosa (Fundalurp) Chile – Gustavo Serrano
11:25 Fundacion Argentina de Retinosis Pigmentaria– Francisco Albarracin
11:30 Asociación Es Retina Asturias – Andres Mayor Lorenzo
11:35 Stargardt Apnes – Marcela Ciccioli
11:40 Grupo Stargardt – Marina Leite
11:45 Retina Choroideremia Research Foundation – Eric Hartman
11:50 Curing Retinal Blindness Foundation CRB1 – Christin Smedley
11:55 RDH12 Fund for Sight – Cecilia Vasconcelos
12:00 Foundation Fighting Blindness – Rachel Huckfeldt
12:05 Retina Internacional – Christina Fasser
12:10 – Building connections
12:30 – 14:00 Lunch
July 7th – Friday Afternoon
Auditorium
13:30 -14:00 ISGEDR Business Meeting
ISGEDR 2025 Meeting Site Proposals
14:00 – 16:00 Genetics – Gene Therapy
Moderators: Byron Lam and Mark Pennesi
14:00 Emilia Zin – Ocular gene therapies: the importance of pre-clinical studies
14:07 Rescue of Retinal Function in a Child with ACBD5 associated Syndromic Retinal Dystrophy after Hematopoetic Stem Cell Transplant – Ken K. Nischal
14:17 Development and subretinal delivery of a novel MiR-181 inhibitor in rat – Lorena de Melo Haefeli
14:24 SLC24A1-related Retinal Dystrophy: Report of a Novel Nonsense Variant associated with Congenital Stationary Night Blindness – Hannah L. Scanga
14:31 A rare mutation of SLC52A2 gene – Maja Kostic
14:38 Evaluating Visual Photosensitivity in Subjects with and without Achromatopsia using the Ocular Photosensitivity Analyzer and the VLSQ-8 Questionnaire – Byron L. Lam
14:48 Ph1/2 AAV5-RPGR (Botaretigene Sparoparvovec) Gene Therapy Trial in RPGR-associated X-linked Retinitis Pigmentosa (XLRP) – Rachel Huckfeldt
14:58 PRODYGY: Study Design of a First-in-Human Trial of SPVN06 Gene-Independent Gene Therapy in Subjects with Rod-Cone Dystrophy – Daniel C Chung
15:08 Mild RPE65-related inherited retinal disease (IRD) associated with novel putatively hypomorphic variant – Filip Van den Broeck (Recorded)
15:15 Variants of RPE65 in patients of Leber’s congenital Amaurosis in Argentina – Marcela Ciccioli
15:25 – 16:00 Panel discussion: Ongoing clinical trials for IRDs and AMD
Panelists: Byron Lam, Mark Pennesi, Mandeep Singh and Bart P. Leroy
16:00 – 16:30 Break
16:30 – 18:00 Grand Rounds by the PANIRD Panamerican Inherited Retinal Distrophy Group
Moderators: Carlos Mendoza, Maya Kostic, Marcela Ciccioli, Juliana Sallum, Byron Lam
16:30 Introduction: Carlos Mendoza
Cases:
16:40 Rene Moya
16:50 Huber Vasconcelos
17:00 Laura Echandi
17:10 Alejandra Antacle
17:20 Byron Lam
17:30 Balen Yadarola
17:40 Maja Kostic
17:50 Carlos Mendoza
Room 2AB
14:00 – 16:00 Friday afternoon – RB Treatment
Moderators: Dan Gombos and Luiz Fernando Teixeira
14:00 Carboplatin associated toxicity in an intra-arterial chemotherapy (IAC) retinoblastoma (RB) rabbit model – Dan Gombos
14:15 Orbital pharmacokinetics of topotecan after ophthalmic artery chemosurgery in pigs: significance in high-risk locally disseminated retinoblastoma therapy – Alan Andres Vater
14:30 Second and third courses of Superselective Intra-Arterial Chemotherapy for treatment of recurrence in retinoblastoma eyes – Luiz Fernando Teixeira
14:45 Gemcitabine as a potential new drug for retinoblastoma treatment – Maria Belen Cancela
15:00 Evaluation of Visual Outcomes in Retinoblastoma Survivors and Determining Factors Predicting Failure of Vision Salvage – Ashwin Mallipatna
15:15 Management and outcome of retinoblastoma with no visible optic nerve head following first line therapy – Christina Stathopoulos
15:30 Panel discussion
16:00 – 16:30 Break
16:30 -18:00 RB Treatment and Guidelines
Moderators: Maja Beck-Popovic and Francis Munier
16:30 Clinical presentation and outcome of retinoblastoma in older children – Luiz Fernando Teixeira
16:45 Evaluation of the outcomes of intravitreal chemotherapy for retinoblastoma in a referral center in Argentina – Claudia Sampor
17:00 GALOP II protocol for the treatment of unilateral non-metastatic retinoblastoma – preliminary results in a referal center in Argentina – Claudia Sampor
17:15 Retinoblastoma in Chile 2022 – Results of the National Multi-Center Study – Diego Ossandon
17:30 Panel discussion: RB and the future perspectives – Francis Munier and Maya Beck-Popovic
July 8th – Saturday Morning
Auditorium
8:30 – 9:20 Journal Opthalmic Genetics
8:30 Ophthalmic Genetics Journal: From Jules François to many of us – Elias I. Traboulsi
9:00 Introduction of New Editor Brian Brooks and the Editorial Board
9:20 – 10:30 Macular and Retinal dystrophies
Moderators: Mariana Vallim Salles and Brian Brooks
9:20 Optical coherence tomography angiography of choroidal neovascularization in Long-chain 3 – Hydroxyacyl-CoA Dehydrogenase deficiency (LCHADD) – Nida Wongchaisuwat and Mark Pennesi
9:27 Current Challenges in Genetic Counseling with ABCA4 related disease – Jenina Capasso
9:34 The phenotype of Stargardt disease patients homozygous for the ABCA4 allele c.5714+5G>A (p.[=,Glu1863Leufs*33]) – Jana Sajovic
9:41 Multimodal analysis of Stargardt cases – Mariana Vallim Salles
9:48 Phenomap Analysis of Multimodal Imaging and Functional Characteristics of Stargardt Disease – Mandeep Singh
9:58 Leveraging Natural History Data for Interventional Trial Design: Implications for the Oral Metformin in ABCA4Retinopathy Trial – Brian P. Brooks
10:08 Achromatopsia – Rebeca Azevedo Souza Amaral
10:15 Pattern Dystrophy: clinical versus molecular diagnoses – Lesley Everett
10:22 Rod sensitivity is affected in patients with Best vitelliform macular dystrophy BVMD – Jose Ronaldo Lima de Carvalho Jr
10:30 – 11:00 Break
11:00 11:30 Genetics: Retinal Dystrophies
Moderators: Robert Hufnagel and Rachel Huckfeldt
11:00 CHM variants in a cohort of male patients from South America – Caio Henrique Marques Texeira
11:06 Atypical presentation of choroideremia in a male patient – Mariana Matioli da Palma (6 min)
11:13 Genetic and Clinical characterization of EYS related Retinitis pigmentosa – Ester Abigail da Silva Martins
11:20 Pro-EYS: retinal degeneration-associated EYS alleles and genotype-phenotype correlations – Robert Hufnagel
11:30 – 12:30 Franceschetti Lecture
10 min Introduction of the Frenceschetti Lecturer – Elias Traboulsi
40 min – Walking on the side of the path: insights for ophthalmic genetics practice – Michael B Gorin
The Harold and Pauline Price Chair in Ophthalmology Chief of the Division of Retinal Disorders and Ophthalmic Genetics in the Department of Ophthalmology at the David Geffen School of Medicine (UCLA).
10 min Questions
12:30- 14:00 Lunch
8:30 – 10:00 RB –
Visit to GRAAC
Room 2AB
9:00 – 11:00 Talking with patients / Conversando com pacientes
6 min oral talk followed by 8 min questions – Translation at your cell phone – Bring earphone/ headset
Tradução pelo seu celular – Traga fones de ouvido
9:00 Welcome / Boas vindas
Moderators: Rosane Resende, Eduardo Silva, Juliana Sallum, Maria Antonieta Leopoldi
9:15 Janssen communication / De Olho nos Genes – Liane Touma
9:30 Medical care for Retinitis pigmentosa and other dystropies / Acompanhamento médico para pacientes com Retinose pigmentar e outras distrofias – Eduardo Silva (Português)
9:45 Research perspectives for RPGR patients / Perspectivas de pesquisa para pacientes com RPGR – Byron Lam
10:00 Clinical trials / Pesquisas Clínicas – Mark Pennesi (English)
10:15 LCA for patients and parents / Amaurose congênita de Leber para pacientes e pais – Bart Leroy (English)
10:30 Stargardt Disease ABCA4 update / Atualização em Doença de Stargardt ABCA4 – Frans Cremers (English)
10:45 New treatments in development for Age Related Macular Degeneration and Diabetic Macular Edema / Novos tratamentos em desenvolvimento para Degeneração macular relacionada a idade e Edema macular diabético – Mandeep Singh (English)
11:00 – 12:00 Lunch box will be served in the room
12:00 – 13:30
Talking with patients / Conversando com pacientes
6 min oral talk followed by 8 min questions – Translation at your cell phone – Bring earphone/ headset
Tradução pelo seu celular – Traga fones de ouvido
Moderators: Rosane Resende, Eduardo Silva, Juliana Sallum e Cecília Vasconcelos
12:00 O impacto das associações de pacientes / Patient association impact – Christina Fasser (English)
12:15 Choroideremia Research Foundation / Coroideremia – Eric Hartman (English)
12:30 Usher research and other FFB Foundation Fighting Blindness activities / Pesquisas sobre Usher e outras atividades da FFB – Rachel Huckfeldt (English)
12:45 CRB1 – A joint effort from patients and doctors / CRB1 – Esforço conjunto entre pacientes e médicos– Kristin Smedly and Irene Maumenee
13:00 Questions / Perguntas
13:15 Closing/ Encerramento
July 8th – Saturday Afternoon
Auditorium
14:00 – 15:20 Registries / Databases / Countries – world
Moderators: Irene Maumenee, Michael Gorin and Bart P. Leroy
14:00 The clinical utility of Oxford Nanopore Technologies sequencing for inherited retinal disease genomics – Gavin Arno (Pre-Recorded)
14:10 Reducing Cost, Improving Accuracy, and Increasing Accessibility of Genetic Testing and Gene Based Therapeutics – Alex Levin
14:20 Profile of a hereditary retinal diseases Northeast Brazil cohort members of the Retina Ceará Group after genetic testing campaign – Gabriela Doná Rodrigues
14:27 Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina – Maria Belen Yadarola
14:34 Clinical characteristics and Genotyping of Retinal and Macula Dystrophy Patients in a South-east Asian setting – Choi Mun Chan
14:41 Studying the genetic basis of inherited retinal diseases in Greece – Evangelia Panagiotou
14:48 The Future of Ophthalmic Genetics: Public Health Issues – Irene H Maumenee
15:00 Clinical Useful Implementations of Artificial Intelligence: Allowing the physician to do more by having and AI partner and Using AI to provide higher resolution analysis than humans can accomplish – Jochen Kumm
15:20 – 15:50 Panel Discussion: Wise thoughts for the future
Moderator: Irene Maumenee, Bronwyn Bateman, Bart P. Leroy
All of us
15:50 – 16:00 Closing
Juliana Sallum, Eduardo Silva, Elias Traboulsi and Francis Munier
Posters and Pre-Recorded Lectures
RB – Posters
1. PMS2-related constitutional mismatch repair deficiency in a patient with unilateral retinoblastoma and negative germline RB1 – Celeste Wyman
2. Aqueous Humor Extracellular Vesicles as promising biomarkers for retinoblastoma and other ocular diseases – Jesse Berry
3. Single- versus triple-agent intra-arterial chemotherapy for retinoblastoma – Najah Alshahrani
Genetics – Posters
1. The natural history of the ABCA4 Gene Structure and function – Andressa Zanini Fantato Quercia
2. Anterior Segment Anomalies in Oculodentodigital Dysplasia (ODDD): Report of a Novel GJA1 Variant and Detailed Ophthalmologic Assessment – Catalina Feistritzer and Ken K. Nischal
3. HGSNAT-Related Retinopathy Clinical Spectrum and Use of Enzymatic Function Testing to Clarify Variants of Uncertain Significance – Celeste Wyman
4. Genetic Landscape of Achromatopsia in Brazil – Fernanda Porto
5. Phase 1 Study of JNJ-81201887 Gene Therapy in Geographic Atrophy (GA) Due to Age-related Macular Degeneration (AMD) – Jessica Ackert
6. Inherited retinal disorder community’s perception and understanding of gene therapy – Naomi E. Wagner
7. Sequence variants in WDR proteins are associated with early onset retinal dystrophy – Ryan Schmidt
8. Efficacy and Accuracy of Artificial Intelligence to Overlay Multimodal Images from Different Optical Instruments in Patients with Retinitis Pigmentosa – Shaden Yassin
9. Ocular, systemic and electrophysiologic findings in Knobloch syndrome: a 21-year follow-up – Sung Eun Song Watanabe
10. Retinal dystrophy due to NBAS variants – Mariana Matioli da Palma
11. Does Spasmus Nutans Really Exist? – Salma A. Dawoud
12. Establishing the Pathogenicity of a Novel Variant in BBS5 in a Filipino Family – Diego Luise Ramos
13. Oligogenic contribution of rare exonic variants in a north Indian family with primary concomitant exotropia – Zia Chaudhuri
14. Founder Effect of a c.185 G>C Mutation in BEST1 Gene Causing Autosomal Recessive Bestrophinopathy – Caroline Atef Tawfik
15. Poretti-Bolthauser Syndrome: Diagnostic Surprise in Assessment of Macular Abnormality – Caroline Atef Tawfik
16. Clinical and Genetic Characterization of CRB1-Associated Retinopathy in an Egyptian Cohort – Caroline Atef Tawfik
17. Revisiting Knobloch Syndrome: New Insights from a Small Cohort of Patients – Caroline Atef Tawfik
Pre-Recorded Lectures
Potential and proven contribution of liquid biopsies in the management of retinoblastoma – Jesse Berry
SWIMMERRB: Objective Research Outcome Assessment Tool for Retinoblastoma – Brenda Gallie
The clinical utility of Oxford Nanopore Technologies sequencing for inherited retinal disease genomics – Gavin Arno