共济失调伴维生素 E 缺乏的非典型视网膜病变：一个兄弟姐妹的报告

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2023-12-18 DOI:10.1007/s10048-023-00741-9

Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi, Sara Touhami

{"title":"共济失调伴维生素 E 缺乏的非典型视网膜病变：一个兄弟姐妹的报告","authors":"Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi, Sara Touhami","doi":"10.1007/s10048-023-00741-9","DOIUrl":null,"url":null,"abstract":"<p>Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship\",\"authors\":\"Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi, Sara Touhami\",\"doi\":\"10.1007/s10048-023-00741-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.</p>\",\"PeriodicalId\":56106,\"journal\":{\"name\":\"Neurogenetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2023-12-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurogenetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10048-023-00741-9\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurogenetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10048-023-00741-9","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

典型的视网膜色素变性（RP）可能不是共济失调伴维生素 E 缺乏症（AVED）患者唯一的视网膜表型。下面这组简短的病例描述了 AVED 视网膜病变的一种新形式。我们描述了两名同属近亲的 AVED 患者。这两名患者都出现了不寻常的视网膜病变，包括散在、多灶、麻木、高自发光的萎缩性视网膜斑块。在补充维生素 E 后，视网膜病变保持稳定。我们推测这些变化是在早期补充α-生育酚醋酸盐后，与 AVED 相关的 RP 被抑制的结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship

查看原文本刊更多论文

Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship

Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.