{"title":"利伯氏遗传性视神经病变伴视网膜出血。","authors":"Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Ryoma Yasumoto, Hitoshi Ishikawa, Masato Wakakura","doi":"10.1080/01658107.2024.2389957","DOIUrl":null,"url":null,"abstract":"<p><p>Leber's hereditary optic neuropathy (LHON) causes subacute visual loss, and, in the acute phase, the optic disc shows hyperemia, peripapillary telangiectasia, and swelling of the retinal nerve fiber layer (RNFL). Rarely, retinal hemorrhage may be present. In this study, we investigated LHON cases with retinal hemorrhage in the acute phase. Among 82 cases (164 eyes) of LHON who visited the Inoue Eye Hospital, retinal hemorrhage was observed in 5 cases (5 eyes). The age at onset was 36 (27-46) years, with 4 male cases. Mitochondrial DNA analysis revealed the presence of the m.11778G > A variant in four patients and the m.14484T > C variant in one patient. There was no medical history and no excessive smoking or alcohol consumption in any of the cases. In all cases, retinal hemorrhages were observed in the RNFL, accompanying the characteristic optic disc findings of LHON. Fluorescein angiography performed in three cases showed no leakage from the optic disc or blood vessels. While rare, the presence of retinal hemorrhage along the RNFL during the acute phase of LHON should be recognized, as it may warrant consideration of alternative diagnoses.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"49 2","pages":"127-131"},"PeriodicalIF":0.8000,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881881/pdf/","citationCount":"0","resultStr":"{\"title\":\"Leber's Hereditary Optic Neuropathy with Retinal Hemorrhage.\",\"authors\":\"Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa, Kenji Inoue, Ryoma Yasumoto, Hitoshi Ishikawa, Masato Wakakura\",\"doi\":\"10.1080/01658107.2024.2389957\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Leber's hereditary optic neuropathy (LHON) causes subacute visual loss, and, in the acute phase, the optic disc shows hyperemia, peripapillary telangiectasia, and swelling of the retinal nerve fiber layer (RNFL). Rarely, retinal hemorrhage may be present. In this study, we investigated LHON cases with retinal hemorrhage in the acute phase. Among 82 cases (164 eyes) of LHON who visited the Inoue Eye Hospital, retinal hemorrhage was observed in 5 cases (5 eyes). The age at onset was 36 (27-46) years, with 4 male cases. Mitochondrial DNA analysis revealed the presence of the m.11778G > A variant in four patients and the m.14484T > C variant in one patient. There was no medical history and no excessive smoking or alcohol consumption in any of the cases. In all cases, retinal hemorrhages were observed in the RNFL, accompanying the characteristic optic disc findings of LHON. Fluorescein angiography performed in three cases showed no leakage from the optic disc or blood vessels. While rare, the presence of retinal hemorrhage along the RNFL during the acute phase of LHON should be recognized, as it may warrant consideration of alternative diagnoses.</p>\",\"PeriodicalId\":19257,\"journal\":{\"name\":\"Neuro-Ophthalmology\",\"volume\":\"49 2\",\"pages\":\"127-131\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-08-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11881881/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuro-Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/01658107.2024.2389957\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuro-Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/01658107.2024.2389957","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
勒伯遗传性视神经病变(LHON)会导致亚急性视力下降,在急性期,视盘会出现充血、毛细血管扩张和视网膜神经纤维层(RNFL)肿胀。极少数情况下,可能会出现视网膜出血。在本研究中,我们调查了在急性期出现视网膜出血的 LHON 病例。在井上眼科医院就诊的 82 例(164 眼)LHON 患者中,有 5 例(5 眼)观察到视网膜出血。发病年龄为 36(27-46)岁,其中 4 例为男性。线粒体 DNA 分析显示,4 名患者存在 m.11778G > A 变异,1 名患者存在 m.14484T > C 变异。所有病例均无病史,也没有过度吸烟或饮酒。在所有病例中,RNFL均出现视网膜出血,并伴有LHON的特征性视盘发现。三个病例的荧光素血管造影显示视盘或血管没有渗漏。在 LHON 急性期沿 RNFL 出现视网膜出血的情况虽然罕见,但应引起重视,因为这可能需要考虑其他诊断。
Leber's Hereditary Optic Neuropathy with Retinal Hemorrhage.
Leber's hereditary optic neuropathy (LHON) causes subacute visual loss, and, in the acute phase, the optic disc shows hyperemia, peripapillary telangiectasia, and swelling of the retinal nerve fiber layer (RNFL). Rarely, retinal hemorrhage may be present. In this study, we investigated LHON cases with retinal hemorrhage in the acute phase. Among 82 cases (164 eyes) of LHON who visited the Inoue Eye Hospital, retinal hemorrhage was observed in 5 cases (5 eyes). The age at onset was 36 (27-46) years, with 4 male cases. Mitochondrial DNA analysis revealed the presence of the m.11778G > A variant in four patients and the m.14484T > C variant in one patient. There was no medical history and no excessive smoking or alcohol consumption in any of the cases. In all cases, retinal hemorrhages were observed in the RNFL, accompanying the characteristic optic disc findings of LHON. Fluorescein angiography performed in three cases showed no leakage from the optic disc or blood vessels. While rare, the presence of retinal hemorrhage along the RNFL during the acute phase of LHON should be recognized, as it may warrant consideration of alternative diagnoses.
期刊介绍:
Neuro-Ophthalmology publishes original papers on diagnostic methods in neuro-ophthalmology such as perimetry, neuro-imaging and electro-physiology; on the visual system such as the retina, ocular motor system and the pupil; on neuro-ophthalmic aspects of the orbit; and on related fields such as migraine and ocular manifestations of neurological diseases.