Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.

IF 2.6 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2023-06-01 DOI:10.1007/s10633-022-09916-5

Megan Soucy, Masha Kolesnikova, Angela H Kim, Stephen H Tsang

{"title":"Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.","authors":"Megan Soucy, Masha Kolesnikova, Angela H Kim, Stephen H Tsang","doi":"10.1007/s10633-022-09916-5","DOIUrl":null,"url":null,"abstract":"Introduction: Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We describe a novel presentation of the c.623G > A; p.(Gly208Asp) variant in association with cone-rod dystrophy and reduced penetrance.Case description: A 39-year-old man presents with a history of decreased visual acuity, photophobia, and dyschromatopsia. Fundus examination was largely unremarkable while spectral-domain optical coherence tomography (SD-OCT) demonstrated diffuse granularity at the ellipsoid zone. Full-field electroretinogram (ffERG) revealed a cone-rod dystrophy. Genetic testing revealed a heterozygous pathogenic variant, c.623G > A; p.(Gly208Asp), in the PRPH2 gene, also found in an unaffected brother. The 50-year-old brother had no visual symptoms and no findings on fundus examination. SD-OCT showed normal retinal architecture and ffERG was within normal limits bilaterally.Conclusion: This case report broadens the known phenotypic presentations of PRPH2-associated retinopathy and suggests that the PRPH2 variant c.623G > A; p.(Gly208Asp) may be associated with reduced penetrance.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":"146 3","pages":"267-272"},"PeriodicalIF":2.6000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Documenta Ophthalmologica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10633-022-09916-5","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: Mutations in the peripherin-2 gene (PRPH2) are a common cause of inherited retinal dystrophies well known for their phenotypic diversity. We describe a novel presentation of the c.623G > A; p.(Gly208Asp) variant in association with cone-rod dystrophy and reduced penetrance.

Case description: A 39-year-old man presents with a history of decreased visual acuity, photophobia, and dyschromatopsia. Fundus examination was largely unremarkable while spectral-domain optical coherence tomography (SD-OCT) demonstrated diffuse granularity at the ellipsoid zone. Full-field electroretinogram (ffERG) revealed a cone-rod dystrophy. Genetic testing revealed a heterozygous pathogenic variant, c.623G > A; p.(Gly208Asp), in the PRPH2 gene, also found in an unaffected brother. The 50-year-old brother had no visual symptoms and no findings on fundus examination. SD-OCT showed normal retinal architecture and ffERG was within normal limits bilaterally.

Conclusion: This case report broadens the known phenotypic presentations of PRPH2-associated retinopathy and suggests that the PRPH2 variant c.623G > A; p.(Gly208Asp) may be associated with reduced penetrance.

Abstract Image

查看原文本刊更多论文

一个常染色体显性锥杆营养不良不完全外显的家族证明了PRPH2的表型变异。

外周蛋白-2基因(PRPH2)突变是遗传性视网膜营养不良症的常见原因，众所周知其表型多样性。我们描述了c.623G > a的一种新的表现形式;p.(Gly208Asp)变异与锥杆营养不良和外显率降低有关。病例描述:一名39岁男性，有视力下降、畏光和色盲史。眼底检查基本不明显，而光谱域光学相干断层扫描(SD-OCT)在椭球区显示弥漫性颗粒。全场视网膜电图(ffERG)显示锥杆营养不良。基因检测显示为杂合致病变异c.623G > a;p.(Gly208Asp)，在PRPH2基因中，也在一个未受影响的兄弟中发现。这位50岁的兄弟没有视觉症状，眼底检查也没有发现。SD-OCT显示视网膜结构正常，双侧ffERG在正常范围内。结论:该病例报告拓宽了已知的PRPH2相关视网膜病变的表型表现，提示PRPH2变异c.623G > A;p.(Gly208Asp)可能与外显率降低有关。

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

Documenta Ophthalmologica 医学-眼科学

CiteScore

3.50

自引率

21.40%

发文量

审稿时长

>12 weeks

期刊介绍： Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).