{"title":"[Leber's 遗传性视神经病变]。","authors":"Yasuyuki Takai, Akiko Yamagami, Hitoshi Ishikawa","doi":"10.5692/clinicalneurol.cn-001924","DOIUrl":null,"url":null,"abstract":"<p><p>Leber's hereditary optic atrophy (LHON) is a genetic optic neuropathy that is more prevalent in young males but can occur from childhood to old age. The primary cause is mitochondrial genetic mutations, which are associated with dysfunction of mitochondrial electron transport chain complex I. It manifests as acute to subacute visual impairment, often starting unilaterally but progressing to involve both eyes within weeks to months. Visual loss is severe, with many patients having corrected visual acuity below 0.1. The differential diagnosis of optic neuritis is essential, and assessments such as pupillary light reflex, fluorescein fundus angiography, and magnetic resonance imaging can be useful for differentiation. LHON should be considered as one of the differential diagnoses for optic neuritis, and collaboration between neurologists and ophthalmologists is crucial for accurate diagnosis and appropriate treatment.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"326-332"},"PeriodicalIF":0.0000,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Leber's hereditary optic neuropathy].\",\"authors\":\"Yasuyuki Takai, Akiko Yamagami, Hitoshi Ishikawa\",\"doi\":\"10.5692/clinicalneurol.cn-001924\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Leber's hereditary optic atrophy (LHON) is a genetic optic neuropathy that is more prevalent in young males but can occur from childhood to old age. The primary cause is mitochondrial genetic mutations, which are associated with dysfunction of mitochondrial electron transport chain complex I. It manifests as acute to subacute visual impairment, often starting unilaterally but progressing to involve both eyes within weeks to months. Visual loss is severe, with many patients having corrected visual acuity below 0.1. The differential diagnosis of optic neuritis is essential, and assessments such as pupillary light reflex, fluorescein fundus angiography, and magnetic resonance imaging can be useful for differentiation. LHON should be considered as one of the differential diagnoses for optic neuritis, and collaboration between neurologists and ophthalmologists is crucial for accurate diagnosis and appropriate treatment.</p>\",\"PeriodicalId\":39292,\"journal\":{\"name\":\"Clinical Neurology\",\"volume\":\" \",\"pages\":\"326-332\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5692/clinicalneurol.cn-001924\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/4/20 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5692/clinicalneurol.cn-001924","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/20 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
勒伯遗传性视神经萎缩症(LHON)是一种遗传性视神经病变,多发于年轻男性,但从儿童到老年均可发病。其主要病因是线粒体基因突变,与线粒体电子传递链复合物 I 的功能障碍有关。该病表现为急性至亚急性视力障碍,通常从单侧开始,但会在数周至数月内发展为双眼受累。视力损失严重,许多患者的矫正视力低于 0.1。视神经炎的鉴别诊断至关重要,瞳孔光反射、荧光素眼底血管造影和磁共振成像等评估有助于鉴别。LHON 应被视为视神经炎的鉴别诊断之一,神经科医生和眼科医生之间的合作对于准确诊断和适当治疗至关重要。
Leber's hereditary optic atrophy (LHON) is a genetic optic neuropathy that is more prevalent in young males but can occur from childhood to old age. The primary cause is mitochondrial genetic mutations, which are associated with dysfunction of mitochondrial electron transport chain complex I. It manifests as acute to subacute visual impairment, often starting unilaterally but progressing to involve both eyes within weeks to months. Visual loss is severe, with many patients having corrected visual acuity below 0.1. The differential diagnosis of optic neuritis is essential, and assessments such as pupillary light reflex, fluorescein fundus angiography, and magnetic resonance imaging can be useful for differentiation. LHON should be considered as one of the differential diagnoses for optic neuritis, and collaboration between neurologists and ophthalmologists is crucial for accurate diagnosis and appropriate treatment.