An USH2A variant leading to isolated maculopathy: a novel phenotype.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-07-07 DOI:10.1080/13816810.2025.2528043

Param Bhatter, Gabrielle Hallai, Meghan J Debenedictis, Elias I Traboulsi, Alex Yuan

{"title":"An USH2A variant leading to isolated maculopathy: a novel phenotype.","authors":"Param Bhatter, Gabrielle Hallai, Meghan J Debenedictis, Elias I Traboulsi, Alex Yuan","doi":"10.1080/13816810.2025.2528043","DOIUrl":null,"url":null,"abstract":"Introduction: To describe examination and findings in a case of isolated maculopathy with genetic testing revealing an USH2A genotype.Methods/results: A 65-year-old man was found to have slowly worsening central vision in both eyes over several years. Fundus examination showed parafoveal pigmentary changes with an otherwise normal peripheral exam in both eyes. Fundus autofluorescence revealed parafoveal hypofluorescence with surrounding ring like area of hyperfluorescence, with optical coherence tomography (OCT) showing retinal thinning and parafoveal photoreceptor loss. Multifocal electroretinography (ERG) demonstrated diminished central responses, with full field ERG showing normal scotopic response and reduced photopic responses. Genetic testing for retinal dystrophies revealed a homozygous pathogenic variant in USH2A c.10342G>A, p. Glu3448Lys.Discussion: USH2A-associated retinal dystrophy usually presents with a rod-cone phenotype. While reports of a cone-rod phenotype have been described, we present the first reported case of isolated maculopathy in USH2A-associated retinal dystrophy.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2000,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13816810.2025.2528043","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: To describe examination and findings in a case of isolated maculopathy with genetic testing revealing an USH2A genotype.

Methods/results: A 65-year-old man was found to have slowly worsening central vision in both eyes over several years. Fundus examination showed parafoveal pigmentary changes with an otherwise normal peripheral exam in both eyes. Fundus autofluorescence revealed parafoveal hypofluorescence with surrounding ring like area of hyperfluorescence, with optical coherence tomography (OCT) showing retinal thinning and parafoveal photoreceptor loss. Multifocal electroretinography (ERG) demonstrated diminished central responses, with full field ERG showing normal scotopic response and reduced photopic responses. Genetic testing for retinal dystrophies revealed a homozygous pathogenic variant in USH2A c.10342G>A, p. Glu3448Lys.

Discussion: USH2A-associated retinal dystrophy usually presents with a rod-cone phenotype. While reports of a cone-rod phenotype have been described, we present the first reported case of isolated maculopathy in USH2A-associated retinal dystrophy.

查看原文本刊更多论文

导致孤立黄斑病变的USH2A变异：一种新的表型。

简介：描述一例孤立性黄斑病变的检查和发现，基因检测显示USH2A基因型。方法/结果：一名65岁男性，发现双眼中央视力在数年内逐渐恶化。眼底检查显示视网膜中央凹旁色素改变，外周检查正常。眼底自身荧光显示中央凹旁低荧光，周围呈环形高荧光区，光学相干断层扫描（OCT）显示视网膜变薄和中央凹旁光感受器丧失。多焦视网膜电图（ERG）显示中枢反应减弱，全视野ERG显示暗位反应正常，光位反应减弱。视网膜营养不良的基因检测显示USH2A c.10342G> a, p. Glu3448Lys的纯合致病变异。讨论：ush2a相关的视网膜营养不良通常表现为杆状锥体表型。虽然锥杆表型的报告已经被描述，我们提出了第一例报告孤立黄斑病变在ush2a相关的视网膜营养不良。

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

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.