Malena Daich Varela , Rene Moya , José D. Luna , Marcela Ciccioli , M. Eugenia Inga , Julieta Gras , Pedro J. Nuova , Luciana Capalbo , Alejandra Antacle , Laura Echandi , Angelica Moussali , Alejandro Sanders Villa , Marcela Pérez Araya , Tamara Muhlberger , Rocio A. Villafuerte-de la Cruz , Adda Villanueva , Tania Barragán Arévalo , Olivia Araujo Zin , Thiago Carvalho Barros de Oliveira , Fernanda Belga Ottoni Porto , Juliana Maria Ferraz Sallum
{"title":"RPGR-Related Retinal Dystrophy in Latin America—A Collaborative Study","authors":"Malena Daich Varela , Rene Moya , José D. Luna , Marcela Ciccioli , M. Eugenia Inga , Julieta Gras , Pedro J. Nuova , Luciana Capalbo , Alejandra Antacle , Laura Echandi , Angelica Moussali , Alejandro Sanders Villa , Marcela Pérez Araya , Tamara Muhlberger , Rocio A. Villafuerte-de la Cruz , Adda Villanueva , Tania Barragán Arévalo , Olivia Araujo Zin , Thiago Carvalho Barros de Oliveira , Fernanda Belga Ottoni Porto , Juliana Maria Ferraz Sallum","doi":"10.1016/j.ajo.2025.05.025","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><div>To provide the first genetic and clinical characterization of <em>RPGR</em>-associated inherited retinal diseases (IRDs) in Latin America and assess their genetic, clinical, and socioeconomic landscape.</div></div><div><h3>Design</h3><div>Multicenter, international, retrospective, observational cohort study.</div></div><div><h3>Methods</h3><div>Patients with genetically confirmed <em>RPGR</em>-IRD from Brazil, Argentina, Chile, Mexico, Colombia, and Panama were included in this study. Demographic, clinical, genetic, and socioeconomic data were collected and analyzed to characterize disease prevalence and severity, assess rate of progression, and draw genotype-phenotype correlations. A socioeconomic evaluation analyzed healthcare costs and employment.</div></div><div><h3>Results</h3><div>The study describes the largest cohort to date of patients with <em>RPGR</em>-associated IRD, with 314 individuals from 205 families carrying likely disease-causing variants. Of these, 276 individuals (88%) had retinitis pigmentosa, with a mean age of disease onset at 10.9 ± 7.6 years. Analyzed cross-sectionally at the baseline visit (age 27.3 ± 17.2 years), there was a statistically significant association between age and best-corrected visual acuity (BCVA, <em>P</em> < .0001, R<sup>2</sup> = 0.3). Kaplan–Meier analysis showed that more than 90% of patients would maintain binocular BCVA better than 1.0 logMAR until age 40 years, decreasing to 50% by age 57 years, and by 58 years of age 50% of patients would have discernible subfoveal ellipsoid zone. The mean age of male patients whose BCVA was 1.0 logMAR or worse in their better-seeing eye was 48.3 ± 9.5 years (median, 49 years). Fourteen previously unreported variants in <em>RPGR</em> are described. Among patients who declared employment status (n = 122), 43% reported being unemployed or in part-time employment due to their visual impairment; among those who reported mental health well-being (n = 133), 45% reported depression or anxiety.</div></div><div><h3>Conclusions</h3><div>This study provides the first genetic and clinical characterization of <em>RPGR</em>-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 <em>RPGR</em>-IRDs, this study lays the foundation for potential access to <em>RPGR</em> future therapies in Latin America.</div></div>","PeriodicalId":7568,"journal":{"name":"American Journal of Ophthalmology","volume":"277 ","pages":"Pages 313-322"},"PeriodicalIF":4.2000,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S000293942500265X","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose
To provide the first genetic and clinical characterization of RPGR-associated inherited retinal diseases (IRDs) in Latin America and assess their genetic, clinical, and socioeconomic landscape.
Patients with genetically confirmed RPGR-IRD from Brazil, Argentina, Chile, Mexico, Colombia, and Panama were included in this study. Demographic, clinical, genetic, and socioeconomic data were collected and analyzed to characterize disease prevalence and severity, assess rate of progression, and draw genotype-phenotype correlations. A socioeconomic evaluation analyzed healthcare costs and employment.
Results
The study describes the largest cohort to date of patients with RPGR-associated IRD, with 314 individuals from 205 families carrying likely disease-causing variants. Of these, 276 individuals (88%) had retinitis pigmentosa, with a mean age of disease onset at 10.9 ± 7.6 years. Analyzed cross-sectionally at the baseline visit (age 27.3 ± 17.2 years), there was a statistically significant association between age and best-corrected visual acuity (BCVA, P < .0001, R2 = 0.3). Kaplan–Meier analysis showed that more than 90% of patients would maintain binocular BCVA better than 1.0 logMAR until age 40 years, decreasing to 50% by age 57 years, and by 58 years of age 50% of patients would have discernible subfoveal ellipsoid zone. The mean age of male patients whose BCVA was 1.0 logMAR or worse in their better-seeing eye was 48.3 ± 9.5 years (median, 49 years). Fourteen previously unreported variants in RPGR are described. Among patients who declared employment status (n = 122), 43% reported being unemployed or in part-time employment due to their visual impairment; among those who reported mental health well-being (n = 133), 45% reported depression or anxiety.
Conclusions
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.
期刊介绍:
The American Journal of Ophthalmology is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations. Published monthly since 1884, the full text of the American Journal of Ophthalmology and supplementary material are also presented online at www.AJO.com and on ScienceDirect.
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Manuscripts are accepted with the understanding that they have not been and will not be published elsewhere substantially in any format, and that there are no ethical problems with the content or data collection. Authors may be requested to produce the data upon which the manuscript is based and to answer expeditiously any questions about the manuscript or its authors.