São Paulo, Brazil 2023 – Oral Presentations – Day 1

Auditorium – Basic and Clinical Genetics for Ophthalmologists

100. Grand Opening and Welcome Presentations – Francis Munier, Bart P Leroy, Eduardo Silva and Juliana Sallum

101. Overview of Basic and Clinical Genetics for Ophthalmologists – Bart P Leroy

102. High throughput technologies to identify retinal disease-associated variants – Frans Cremers

103. Bioinformatic Analysis and Variant Classification – Robert Hufnagel

Auditorium – Genetic Counselling and Molecular Genetics

104. The Genetic Counselor Workforce in Inherited Retinal Disease Clinics – Molly Marra

105. Transcriptome analysis as a tool for the comprehension of disease mechanisms: The example of sickle cell retinopathy – Mônica Barbosa de Melo

106. Coats plus syndrome in a Brazilian patient with a novel CTC1 pathogenic mutation – Giulia Steuernagel Del Valle

Auditorium – Patient’s Voice

107. Patient’s Voice – Gustavo Serrano

108. Patient’s Voice – Christina Fasser

109. Beyond Endpoints and Outcomes: The stunning competitive edge of blindness no one saw coming – Eric Hartman

Auditorium – Jules François Lecture

110. Introduction of the Jules François Lecturers – Bart P Leroy

111. Jules François Lecture – 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

Auditorium – Genetics: Anterior Segment and Glaucoma

112. Genetics in Glaucoma: Brazilian findings and perspectives – José Paulo Cabral de Vasconcellos

113. CYP1B1 Cytopathy: A Further Report of Phenotypic Variability – Meghal Gagrani

114. Evaluation of genetic variants associated with primary open-angle glaucoma in a South and Southeastern Brazilian cohort – Thiago Adalton Rosa Rodrigues

115. FOXP4, a novel candidate gene for angle closure glaucoma – William Presley

116. PAX6 missense variants in a Brazilian family with atypical aniridia: minor iris changes as a potential – diagnostic indicator – Priscila Monaro Bianchini

117. Posterior Segment Findings in FOXC1-related Axenfeld- Rieger Syndrome – Hannah L Scanga

118. Gillespie Syndrome Caused by a Novel ITRP1 Gene Variant – A Phenotype-Genotype Correlation – Meghal Gagrani

119. Clinical ophthalmological and genetical characteristics of 27 Brazilian families with familial pediatric Cataract – Olivia Araujo Zin

120. Nance-Horan Syndrome Caused by a Partial NHS Duplication – Catalina Feistritzer

121. Defining novel genes and noncoding variants in nanophthalmos using gene regulatory networks- Lev Prasov

122. Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients – Rebeca Azevedo Souza Amaral

123. Misdiagnosis of Corneal Dystrophies in Children: A 10- Year Experience – Ken K Nischal

124. Gene Variant Spectrum in Probands with Familial Exudative Vitreoretinopathy – Johane Robitaille

Auditorium – Genetics: Retinal Phenotypes

125. – Genotypes and ERG phenotypes in ARR3-mutation- associated early-onset high myopia (MYP26) – Mirella Barboni

126. – Missense mutation in LRP5 in a patient with familial exudative vitreoretinopathy (FEVR) – Maria Frasson

127. – Retinal Sensitivity in KCNV2-associated Retinopathy – Thales A. C. de Guimaraes

128.RTN4IP1: Optic Atrophy, Rod-Cone Dystrophy, or Both? – Alejandra Antacle

129. – Phenotypic and genotypic spectrum of pericentral retinitis pigmentosa due to HGSNATMariana Matioli da Palma

130. -Phenotypic description of MORC2-related retinal dystrophy – Kari Branham

131. -Development of a full-field two-color dark-adapted perimetry protocol using an unmodified perimeter – Alessia Amato

132. -ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome: report of the ocular features – Laryssa Huryn

133. -ROSAH syndrome – Filip Van den Broeck

134. -CERKL related inherited retinal dystrophy in a Brazilian population – Erika Yasaki

135. – Ophthalmic Findings in Alström Syndrome – Diego I Paredes Jalil

136. -Vision loss with nyctalopia, microcephaly and lymphedema in patients with rare KIF11 mutations – Maja Kostic

Room 2AB – Retinoblastoma (RB) Genetics and Liquid Biopsy

2AB 101 – Molecular alterations in Retinoblastoma beyond RB1 – Evandro Lucena

2AB 102 – Retinoblastoma caused by RB1 Promoter Methylation from X-inactivation in Child with a Mosaic X;13 Translocation – Ashwin Mallipatna

2AB 103 – Retinoblastoma and 13q deletion: Clinical characterization of 3 patients with different evolutions – Leonardo Buffolo

2AB 104 – Assessment of RB1 pathogenic variant detection and cell-free DNA concentration in aqueous humor – findings from an extended retinoblastoma cohort – Amy Gerrish

2AB 105 – Extracellular vesicles in diagnostic retinoblastoma aqueous humor correlate with disease stage and clinical outcome: A pilot study – Liya Xu

2AB 106 – An integrated approach to study genomics and epigenomics of retinoblastoma from cell-free DNA in the aqueous humor – Francesca Cancellieri

Room 2AB – RB Clinical cases discussion

2AB 107. RB Clinical Case – Ashwin Mallipatna

2AB 108. RB Clinical Case – Monique Mangeon

2AB 09. RB Clinical Case – Nathalia Grigorovski

2AB 110. RB Clinical Case – Christina Stathopoulos

2AB 111. RB Clinical Case – Diego Ossandon

2AB 112. RB Clinical Case – Claudia Sampor