São Paulo, Brazil 2023 – Oral Presentations – Day 3

Auditorium – Ophthalmic Genetics Journal

301. Ophthalmic Genetics Journal: From Jules François to many of us – Elias I Traboulsi

302. Introduction of New Editor Brian Brooks and the Editorial Board – Brian Brooks

Auditorium – Macular and Retinal Dystrophies

303. Optical coherence tomography angiography of choroidal neovascularization in Long-chain 3 – Hydroxyacyl-CoA Dehydrogenase deficiency (LCHADD) – Nida Wongchaisuwat and Mark Pennesi

304. Current Challenges in Genetic Counseling with ABCA4 related disease – Jenina Capasso

305. The phenotype of Stargardt disease patients homozygous for the ABCA4 allele c.5714+5G>A (p.[=,Glu1863Leufs*33]) – Jana Sajovic

306. Multimodal analysis of Stargardt cases – Mariana Vallim Salles

307. Phenomap Analysis of Multimodal Imaging and Functional Characteristics of Stargardt Disease – Mandeep Singh

308. Leveraging Natural History Data for Interventional Trial Design: Implications for the Oral Metformin in ABCA4 Retinopathy Trial – Brian P Brooks

309. Achromatopsia – Rebeca Azevedo Souza Amaral

310. Pattern Dystrophy: clinical versus molecular diagnoses – Lesley Everett

311. Rod sensitivity is affected in patients with Best vitelliform macular dystrophy BVMD – Jose Ronaldo Lima de Carvalho Jr

Auditorium – Genetics: Retinal Dystrophies

312. CHM variants in a cohort of male patients from South America – Caio Henrique Marques Texeira

313. Atypical presentation of choroideremia in a male patient – Mariana Matioli da Palma

314. Genetic and Clinical characterization of EYS related Retinitis pigmentosa – Ester Abigail da Silva Martins

315. Pro-EYS: retinal degeneration-associated EYS alleles and genotype-phenotype correlations – Robert Hufnagel

Auditorium – Franceschetti Lecture

316. Introduction of the Franceschetti Lecturer – Elias Traboulsi

317. Walking on the side of the path: Insights for Ophthalmic Genetics Practice – Michael B Gorin

Auditorium – Registries/Databases/Countries – World

318. – The clinical utility of Oxford Nanopore Technologies sequencing for inherited retinal disease genomics – Gavin Arno

319. – Reducing Cost, Improving Accuracy, and Increasing Accessibility of Genetic Testing and Gene Based Therapeutics – Alex Levin

320. – Profile of a hereditary retinal diseases Northeast Brazil cohort members of the Retina Ceará Group after genetic testing campaign – Gabriela Doná Rodrigues

321. – Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina –
José Luna Pinto

322. – Clinical characteristics and Genotyping of Retinal and Macula Dystrophy Patients in a South-east Asian setting – Choi Mun Chan

323. – Studying the genetic basis of inherited retinal diseases in Greece – Evangelia Panagiotou

324. – The Future of Ophthalmic Genetics: Public Health Issues – Irene H Maumenee

325. – 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

Auditorium – Panel Discussion and Closing

326.Panel DiscussionIrene Maumenee, Bronwyn Bateman, Bart P. Leroy plus All of us
ClosingJuliana Sallum, Eduardo Silva, Elias Traboulsi, Bart Leroy and Francis Munier

Room 2AB – Talking with patients/Conversando com pacientes

2AB 301Talking with patients/Conversando com pacientes

Welcome / Boas vindas
Moderators: Rosane Resende, Eduardo Silva, Juliana Sallum, Maria Antonieta Leopoldi

Janssen communication / De Olho nos Genes – Liane Touma
Medical care for Retinitis pigmentosa and other dystropies / Acompanhamento médico para pacientes com Retinose pigmentar e outras distrofias – Eduardo Silva (Português)
Research perspectives for RPGR patients / Perspectivas de pesquisa para pacientes com RPGR – Byron Lam
Clinical trials / Pesquisas Clínicas – Mark Pennesi (English)
LCA for patients and parents / Amaurose congênita de Leber para pacientes e pais – Bart Leroy (English)
Stargardt Disease ABCA4 update / Atualização em Doença de Stargardt ABCA4 – Frans Cremers (English)
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)

2AB 302Talking with patients/Conversando com pacientes

Moderators: Rosane Resende, Eduardo Silva, Juliana Sallum e Cecília Vasconcelos
O impacto das associações de pacientes / Patient association impact – Christina Fasser (English)
Choroideremia Research Foundation / Coroideremia – Eric Hartman (English)
Usher research and other FFB Foundation Fighting Blindness activities / Pesquisas sobre Usher e outras atividades da FFB – Rachel Huckfeldt (English)
CRB1 – A joint effort from patients and doctors / CRB1 – Esforço conjunto entre pacientes e médicos– Kristin Smedly and Irene Maumenee
Questions / Perguntas
Closing/ Encerramento