São Paulo, Brazil 2023 – Virtual Posters

RB Virtual 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 Virtual 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

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