RPGR-Related Retinal Dystrophy in Latin America—A Collaborative Study

IF 4.2 1区 医学 Q1 OPHTHALMOLOGY
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 ,&nbsp;Rene Moya ,&nbsp;José D. Luna ,&nbsp;Marcela Ciccioli ,&nbsp;M. Eugenia Inga ,&nbsp;Julieta Gras ,&nbsp;Pedro J. Nuova ,&nbsp;Luciana Capalbo ,&nbsp;Alejandra Antacle ,&nbsp;Laura Echandi ,&nbsp;Angelica Moussali ,&nbsp;Alejandro Sanders Villa ,&nbsp;Marcela Pérez Araya ,&nbsp;Tamara Muhlberger ,&nbsp;Rocio A. Villafuerte-de la Cruz ,&nbsp;Adda Villanueva ,&nbsp;Tania Barragán Arévalo ,&nbsp;Olivia Araujo Zin ,&nbsp;Thiago Carvalho Barros de Oliveira ,&nbsp;Fernanda Belga Ottoni Porto ,&nbsp;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> &lt; .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.

Design

Multicenter, international, retrospective, observational cohort study.

Methods

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.
拉丁美洲与rpgr相关的视网膜营养不良-一项合作研究。
目的:提供拉丁美洲rgr相关的遗传性视网膜营养不良(IRDs)的第一个遗传和临床特征,并评估其遗传、临床和社会经济状况。设计:多中心国际回顾性观察队列研究。方法:选取来自巴西、阿根廷、智利、墨西哥、哥伦比亚和巴拿马的经遗传证实的RPGR-IRD患者。收集和分析人口统计学、临床、遗传和社会经济数据,以表征疾病的患病率和严重程度,评估进展率,并绘制基因型-表型相关性。社会经济评估分析了医疗费用和就业情况。结果:该研究描述了迄今为止最大的rgr相关IRD患者队列,来自205个家庭的314名个体携带可能引起疾病的变异。其中276人(88%)患有视网膜色素变性(RP),平均发病年龄为10.9±7.6岁。在基线就诊时(27.3±17.2岁)横断面分析,年龄与最佳矫正视力之间有统计学意义的相关性(BCVA, p 2.0.3)。Kaplan-Meier分析显示,超过90%的患者在40岁前双眼BCVA保持在1.0 logMAR以上,到57岁时下降到50%,到58岁时50%的患者有明显的中央凹下椭球带。视力较好的眼BCVA为1.0 logMAR或更差的男性患者的平均年龄为48.3±9.5岁(中位数为49岁)。描述了14个以前未报道的RPGR变异。在宣布有就业状况的患者中(n= 122), 43%的人报告由于视力障碍而失业或从事兼职工作;在报告心理健康状况的人中(133人),45%报告抑郁和/或焦虑。结论:本研究提供了拉丁美洲rgr - ird的第一个遗传和临床特征,贡献了以前未报道的变异、自然历史细节、基因型-表型相关性和估计的区域患病率。通过提供潜在符合条件的患者、临床状况和RPGR- ird的社会经济影响的数据,本研究为拉丁美洲未来RPGR治疗的潜在可及性奠定了基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
9.20
自引率
7.10%
发文量
406
审稿时长
36 days
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. The American Journal of Ophthalmology publishes Full-Length Articles, Perspectives, Editorials, Correspondences, Books Reports and Announcements. Brief Reports and Case Reports are no longer published. We recommend submitting Brief Reports and Case Reports to our companion publication, the American Journal of Ophthalmology Case Reports. 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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信