Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

IF 2.6 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2024-10-01 Epub Date: 2024-07-30 DOI:10.1007/s10633-024-09985-8

Jorge Pincay, Marilyn Rodriguez, Divya Kaushal, Stephen H Tsang

{"title":"Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.","authors":"Jorge Pincay, Marilyn Rodriguez, Divya Kaushal, Stephen H Tsang","doi":"10.1007/s10633-024-09985-8","DOIUrl":null,"url":null,"abstract":"Purpose: Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by pleiotropism that affects multiple organ systems. The primary features of BBS include rod-cone dystrophy, renal anomalies, post axial polydactyly, and neurologic deficits. The clinical picture of BBS is extensively heterogenous, with inter and intra familial patients varying in levels of syndromic manifestations and severity of symptoms.Methods: In this study we examined a monocular BBS patient who was compound heterozygous for mutations in the ARL6 (BBS3) gene.Results: The patient reported visual complaints consistent with a clinical picture of cone or cone-rod dystrophy. Fundus imaging showed retinal mottling on color photos and a parafoveal hyperfluorescent ring on short wave autofluorescence (SW-AF). Full field electroretinogram (ffERG) revealed normal scotopic step tracings and diminished amplitudes in the photopic steps.Conclusion: This rod-sparing result was consistent with cone-dystrophy and is the first known case of a rod-sparing ffERG phenotype in a BBS patient with mutations in the ARL6 gene. This contributes to the existing phenotype and may potentially contribute to furthering our understanding of BBS pathophysiology.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":null,"pages":null},"PeriodicalIF":2.6000,"publicationDate":"2024-10-01","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/s10633-024-09985-8","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/30 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose: Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by pleiotropism that affects multiple organ systems. The primary features of BBS include rod-cone dystrophy, renal anomalies, post axial polydactyly, and neurologic deficits. The clinical picture of BBS is extensively heterogenous, with inter and intra familial patients varying in levels of syndromic manifestations and severity of symptoms.

Methods: In this study we examined a monocular BBS patient who was compound heterozygous for mutations in the ARL6 (BBS3) gene.

Results: The patient reported visual complaints consistent with a clinical picture of cone or cone-rod dystrophy. Fundus imaging showed retinal mottling on color photos and a parafoveal hyperfluorescent ring on short wave autofluorescence (SW-AF). Full field electroretinogram (ffERG) revealed normal scotopic step tracings and diminished amplitudes in the photopic steps.

Conclusion: This rod-sparing result was consistent with cone-dystrophy and is the first known case of a rod-sparing ffERG phenotype in a BBS patient with mutations in the ARL6 gene. This contributes to the existing phenotype and may potentially contribute to furthering our understanding of BBS pathophysiology.

Abstract Image

查看原文本刊更多论文

一名患有 ARL6 基因突变的巴尔德-比德尔综合征患者的保杆手术。

目的：巴尔德-比德尔综合征（Bardet-Biedl Syndrome，BBS）是一种常染色体隐性遗传疾病，其特征是影响多个器官系统的多发性营养不良。BBS 的主要特征包括杆-锥体营养不良、肾脏异常、后轴多指畸形和神经系统缺陷。BBS 的临床表现具有广泛的异质性，家族间和家族内患者的综合征表现和症状严重程度各不相同：本研究对一名单眼 BBS 患者进行了检查，该患者是 ARL6（BBS3）基因突变的复合杂合子：结果：患者报告的视觉症状与锥体或锥杆营养不良的临床表现一致。眼底成像在彩色照片上显示视网膜斑驳，在短波自发荧光（SW-AF）上显示眼底旁高荧光环。全场视网膜电图（ffERG）显示正常的散光阶梯轨迹和减弱的光视阶梯振幅：结论：这一杆状疏松结果与锥体营养不良一致，也是已知的第一例在 ARL6 基因突变的 BBS 患者中出现杆状疏松 ffERG 表型的病例。这对现有的表型做出了贡献，并可能有助于我们进一步了解 BBS 的病理生理学。

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).