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 – José Paulo Cabral de Vasconcellos
- 113 – Meghal Gagrani
- 114 – Thiago Adalton Rosa Rodrigues
- 115 – William Presley
- 116 – Priscila Monaro Bianchini
- 117 – Hannah L Scanga
- 118 – Meghal Gagrani
- 119 – Olivia Araujo Zin
- 120 – Catalina Feistritzer
- 121 – Lev Prasov
- 122 – Rebeca Azevedo Souza Amaral
- 123 – Ken K Nischal
- 124 – Johane Robitaille
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 - Mirella Barboni
- 126 - Maria Frasson
- 127 - Thales A. C. de Guimaraes
- 128 - Alejandra Antacle
- 129 - Mariana Matioli da Palma
- 130 - Kari Branham
- 131 - Alessia Amato
- 132 - Laryssa Huryn
- 133 - Filip Van den Broeck
- 134 - Erika Yasaki
- 135 - Diego I Paredes Jalil
- 136 - Maja Kostic
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 HGSNAT – Mariana 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 - Evandro Lucena
- 2AB 102 - Ashwin Mallipatna
- 2AB 103 - Evandro Lucena
- 2AB 104 - Amy Gerrish
- 2AB 105 - Liya Xu
- 2AB 106 - Francesca Cancellieri
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 – Ashwin Mallipatna
- 2AB 108 – Monique Mangeon
- 2AB 09 – Nathalia Grigorovski
- 2AB 110 – Christina Stathopoulos
- 2AB 111 – Diego Ossandon
- 2AB 112 – Claudia Sampor
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