Aachak M, Brarou H, B. H, Jeddou I, A. T, E. F, M. Y, Reda K, Oubaaz A
{"title":"一例双侧假性视乳头水肿显示Leber遗传性视神经病变","authors":"Aachak M, Brarou H, B. H, Jeddou I, A. T, E. F, M. Y, Reda K, Oubaaz A","doi":"10.26420/austinjclinopthalmol.2022.1128","DOIUrl":null,"url":null,"abstract":"Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease caused by mutations in mitochondrial DNA affecting the respiratory complex I and leading to the death of retinal ganglion cells (RGCs) [1]. It is characterized by sudden onset and usually severe bilateral loss of central vision, predominantly in young men [2]. The risk of vision loss is 50% among men and 10% among women who carry LHON primary mutations in the mitochondrial DNA [3]. We report an atypic case of LHON in a young 11 years old girl.","PeriodicalId":90447,"journal":{"name":"Austin journal of clinical ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Case of Bilateral Pseudo Papilledema Revealing a Leber’s Hereditary Optic Neuropathy\",\"authors\":\"Aachak M, Brarou H, B. H, Jeddou I, A. T, E. F, M. Y, Reda K, Oubaaz A\",\"doi\":\"10.26420/austinjclinopthalmol.2022.1128\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease caused by mutations in mitochondrial DNA affecting the respiratory complex I and leading to the death of retinal ganglion cells (RGCs) [1]. It is characterized by sudden onset and usually severe bilateral loss of central vision, predominantly in young men [2]. The risk of vision loss is 50% among men and 10% among women who carry LHON primary mutations in the mitochondrial DNA [3]. We report an atypic case of LHON in a young 11 years old girl.\",\"PeriodicalId\":90447,\"journal\":{\"name\":\"Austin journal of clinical ophthalmology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-05-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Austin journal of clinical ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26420/austinjclinopthalmol.2022.1128\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Austin journal of clinical ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26420/austinjclinopthalmol.2022.1128","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Case of Bilateral Pseudo Papilledema Revealing a Leber’s Hereditary Optic Neuropathy
Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease caused by mutations in mitochondrial DNA affecting the respiratory complex I and leading to the death of retinal ganglion cells (RGCs) [1]. It is characterized by sudden onset and usually severe bilateral loss of central vision, predominantly in young men [2]. The risk of vision loss is 50% among men and 10% among women who carry LHON primary mutations in the mitochondrial DNA [3]. We report an atypic case of LHON in a young 11 years old girl.