RPGR-Related Retinal Dystrophy in Latin America—A Collaborative Study
This study provides the first genetic and clinical characterization of RPGR-IRD in Latin America, contributing previously unreported variants, natural history details, genotype-phenotype correlations, and an estimated regional prevalence. By providing data on potentially eligible patients, their clinical status, and the socioeconomic impact of RPGR-IRDs, this study lays the foundation for potential access to RPGR future therapies in Latin America.
Authors
- Rebeca Azevedo Souza Amaral (ORCID: https://orcid.org/0000-0001-6557-0723)
- Caio Henrique Marques Texeira (ORCID: https://orcid.org/0000-0002-3992-6965)
- José D. Luna (ORCID: https://orcid.org/0000-0002-4203-7667)
- Cecília Francini Cabral de Vasconcellos (ORCID: https://orcid.org/0000-0001-5115-5174)
- Dário Munt de Moraes (ORCID: https://orcid.org/0000-0002-9027-2557)
- Pedro J. Nuova (ORCID: https://orcid.org/0009-0009-5139-3717)
- Adda Villanueva (ORCID: https://orcid.org/0000-0002-5977-5682)
- Luciana Capalbo
- Julieta Gras
- Rocío Villafuerte-de la Cruz (ORCID: https://orcid.org/0000-0003-1645-4296)
- Gustavo Barreto Melo (ORCID: https://orcid.org/0000-0001-5765-2008)
- María José Guillén Araya (ORCID: https://orcid.org/0000-0002-2422-4899)
- Rosane Guazi Resende
- Juliana Maria Ferraz Sallum (ORCID: https://orcid.org/0000-0002-7206-4447)
- Marta Lucía Tamayo (ORCID: https://orcid.org/0000-0001-8297-3970)
- Tania Barragán-Arévalo (ORCID: https://orcid.org/0000-0002-0377-9916)
- Mariana Vallim Salles (ORCID: https://orcid.org/0000-0003-0388-6823)
- M. Eugenia Inga
- José Ronaldo Lima de Carvalho (ORCID: https://orcid.org/0000-0002-7024-1702)
- Thiago Carvalho Barros de Oliveira (ORCID: https://orcid.org/0000-0002-5221-4700)
- Nancy Gélvez
- René Moya (ORCID: https://orcid.org/0000-0002-0106-1273)
- Fabiana Louise Motta (ORCID: https://orcid.org/0000-0003-2230-995X)
- Fernanda Belga Ottoni Porto (ORCID: https://orcid.org/0000-0002-4308-1766)
- Mariana Matioli da Palma (ORCID: https://orcid.org/0000-0001-5770-279X)
- Laura V. Echandi
- Renata Moreto (ORCID: https://orcid.org/0000-0001-6374-9578)
- Luiz Alexandre Rassi Gabriel
- Malena Daich Varela (ORCID: https://orcid.org/0000-0003-4960-4510)
- Alejandro Sanders Villa
- Greizy López (ORCID: https://orcid.org/0000-0001-9380-0792)
- Olívia A. Zin (ORCID: https://orcid.org/0000-0002-7704-3450)
- Marcela Ciccioli
- Alejandra Antacle
- Gabriela Doná Rodrigues (ORCID: https://orcid.org/0009-0008-8460-1511)
- Angelica Moussali
- Tamara Muhlberger
Institutions
- University of Mendoza (AR)
- National University of Tucumán (AR)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Institute of Rural Management Anand (IN)
- Instituto Tecnológico de Mérida (MX)
- Universidade Federal de Sergipe (BR)
- Pontificia Universidad Javeriana (CO)
- Hospital Italiano de Buenos Aires (AR)
- Secretaria de Salud (MX)
- Hospital Infantil de México Federico Gómez (MX)
- Hospital del Salvador (CL)
- Instituto de Gastroenterologia de Goiânia (BR)
- Institut Català de Retina (ES)
- Instituto Brasiliense de Otorrinolaringologia (BR)
- Maine Farmland Trust (US)
- Centro Científico Tecnológico - San Luis (AR)
- Unichristus (BR)
- Instituto de Olhos de Goiânia (BR)
- Asociación por los Derechos Civiles (AR)
- Instituto Brasileiro de Museus (BR)
- Hospital das Clínicas da Universidade Federal de Pernambuco (BR)
- SUPERA Park of Innovation and Technology of Ribeirão Preto (BR)
- Sanatorio Otamendi y Miroli (AR)
- Moorfields Eye Hospital (GB)
- Centro Científico Tecnológico - Mendoza (AR)
- Hospital Privado (AR)
- Centro de Investigaciones Cardiovasculares (AR)
- Centro de Pesquisas Oncológicas (BR)
- University College London (GB)
- University of Chile (CL)
- Universidade Federal de São Paulo (BR)
- Tecnológico de Monterrey (MX)
Publication Details
- Journal
- American Journal of Ophthalmology
- Published
- 2025-05-27
- DOI
- https://doi.org/10.1016/j.ajo.2025.05.025
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Janssen Pharmaceuticals