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 – Andressa Zanini Fantato Quercia
- 2 – Catalina Feistritzer
- 3 – Celeste Wyman
- 4 – Fernanda Porto
- 5 – Jessica Ackert
- 6 – Naomi E. Wagner
- 7 – Ryan Schmidt
- 8 – Shaden Yassin
- 9 – Sung Eun Song Watanabe
- 10 – Mariana Matioli da Palma
- 11 - Salma A. Dawoud
- 12 – Diego Luise Ramos
- 13 – Zia Chaudhuri
- 14 – Caroline Atef Tawfik
- 15 – Caroline Atef Tawfik
- 16 – Caroline Atef Tawfik
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
TO FOLLOW
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