Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

IF 5 2区 医学 Q1 OPHTHALMOLOGY
Alessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, Amine Benadji, Christel Condroyer, Aline Antonio, Julien Navarro, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo
{"title":"Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.","authors":"Alessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, Amine Benadji, Christel Condroyer, Aline Antonio, Julien Navarro, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo","doi":"10.1167/iovs.66.4.7","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Pathogenic variants in RP1L1 are associated with autosomal dominant occult macular dystrophy (OMD) and autosomal recessive retinitis pigmentosa (RP). In this study, we investigated the phenotypic and genotypic landscape of RP1L1-associated retinopathy in an ethnically heterogeneous cohort.</p><p><strong>Methods: </strong>This multicenter cohort study retrospectively collected the following data: best-corrected visual acuity (BCVA), color fundus photograph (CFP), optical coherence tomography (OCT), short-wavelength fundus autofluorescence (SW-AF), and full-field electroretinography (ffERG). Patients were classified based on their clinical phenotype in OMD or RP. Atypical cases were analyzed separately and reappraised according to their clinical and genetic findings.</p><p><strong>Results: </strong>This study included 20 patients (40 eyes) from 19 families: 12 (60%) with OMD, 4 (20%) with RP, and 4 (20%) atypical cases (3 \"non-occult\" macular dystrophy, 1 rod-cone dystrophy with vitelliform maculopathy). Autosomal dominant OMD was the most common phenotype, with one autosomal recessive OMD case identified. Autosomal recessive RP had the latest onset, best visual acuity, and highest refractive error. OMD BCVA declined by ∼0.5 lines/year over a median follow-up of 3.2 years.</p><p><strong>Conclusions: </strong>Mutations in RP1L1 cause a spectrum of diseases, including autosomal dominant OMD, autosomal recessive OMD, and autosomal recessive rod-cone dystrophies, occasionally presenting with pseudovitelliform maculopathy.</p>","PeriodicalId":14620,"journal":{"name":"Investigative ophthalmology & visual science","volume":"66 4","pages":"7"},"PeriodicalIF":5.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967996/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Investigative ophthalmology & visual science","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1167/iovs.66.4.7","RegionNum":2,"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: Pathogenic variants in RP1L1 are associated with autosomal dominant occult macular dystrophy (OMD) and autosomal recessive retinitis pigmentosa (RP). In this study, we investigated the phenotypic and genotypic landscape of RP1L1-associated retinopathy in an ethnically heterogeneous cohort.

Methods: This multicenter cohort study retrospectively collected the following data: best-corrected visual acuity (BCVA), color fundus photograph (CFP), optical coherence tomography (OCT), short-wavelength fundus autofluorescence (SW-AF), and full-field electroretinography (ffERG). Patients were classified based on their clinical phenotype in OMD or RP. Atypical cases were analyzed separately and reappraised according to their clinical and genetic findings.

Results: This study included 20 patients (40 eyes) from 19 families: 12 (60%) with OMD, 4 (20%) with RP, and 4 (20%) atypical cases (3 "non-occult" macular dystrophy, 1 rod-cone dystrophy with vitelliform maculopathy). Autosomal dominant OMD was the most common phenotype, with one autosomal recessive OMD case identified. Autosomal recessive RP had the latest onset, best visual acuity, and highest refractive error. OMD BCVA declined by ∼0.5 lines/year over a median follow-up of 3.2 years.

Conclusions: Mutations in RP1L1 cause a spectrum of diseases, including autosomal dominant OMD, autosomal recessive OMD, and autosomal recessive rod-cone dystrophies, occasionally presenting with pseudovitelliform maculopathy.

rp1l1相关视网膜病变的表型和基因型特征。
目的:RP1L1的致病变异与常染色体显性隐性黄斑营养不良(OMD)和常染色体隐性遗传性视网膜色素变性(RP)有关。在这项研究中,我们在一个种族异质性队列中调查了rp1l1相关视网膜病变的表型和基因型景观。方法:本多中心队列研究回顾性收集以下数据:最佳矫正视力(BCVA)、彩色眼底照片(CFP)、光学相干断层扫描(OCT)、短波眼底自体荧光(SW-AF)和全视野视网膜电图(ffERG)。根据患者在OMD或RP中的临床表型进行分类。非典型病例分别分析,并根据临床和遗传学结果重新评价。结果:本研究纳入来自19个家庭的20例患者(40只眼),其中OMD 12例(60%),RP 4例(20%),非典型病例4例(20%)(3例“非隐匿性”黄斑营养不良,1例棒锥营养不良伴黄斑黄斑病变)。常染色体显性OMD是最常见的表型,有一例常染色体隐性OMD病例。常染色体隐性RP发病最晚,视力最佳,屈光不正最高。在中位随访3.2年期间,OMD BCVA下降了约0.5株/年。结论:RP1L1突变引起一系列疾病,包括常染色体显性OMD、常染色体隐性OMD和常染色体隐性杆状锥体营养不良症,偶尔表现为假性黄斑病变。
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
6.90
自引率
4.50%
发文量
339
审稿时长
1 months
期刊介绍: Investigative Ophthalmology & Visual Science (IOVS), published as ready online, is a peer-reviewed academic journal of the Association for Research in Vision and Ophthalmology (ARVO). IOVS features original research, mostly pertaining to clinical and laboratory ophthalmology and vision research in general.
×
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:481959085
Book学术官方微信