- 期刊
Leber's Hereditary Optic Neuropathy: A Case Report
雷伯氏遺傳性視神經病變：病例報告
摘要
雷伯氏遺傳性視神經病變（LHON）是因母親粒線體基因突變而遺傳給下一代的罕見疾病。此病主要會造成雙眼視神經病變而影響視力，好發於青少年至青年階段的男性。本病例報告一位12歲男孩，主訴雙眼視力減退約1年。求診時最佳矯正視力右眼為0.08左眼為0.1。經眼科理學檢查發現，右眼瞳孔光反射異常、雙眼視神經盤水腫及視神經盤周圍小血管擴張扭曲；視野檢查發現雙眼視野皆有缺損；眼底螢光攝影檢查在末期並無顯影劑沾染或滲漏在視神經盤周圍；在粒線體基因分析檢查後發現一個立於核甘酸11778的點突變而確立診斷為雷伯氏遺傳性視神經病變。目前以coenzyme Q10神經性輔?為主要治療藥物。
並列摘要
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that primarily affects the optic nerve, causing bilateral vision loss in juveniles and young adults. A 12-year-old boy had complained of blurred vision in both eyes for more than 1 year. His best-corrected visual acuity was 0.08 in the right eye and 0.1 in the left. Ophthalmologic examination showed bilateral optic disc hyperemia and margin blurring, peripapillary telangiectasis, and a relative afferent pupil defect in his right eye. Fluorescein angiography showed no stain or leakage around the optic disc in the late phase. Visual field analysis showed central scotoma in the left eye and a near-total defect in the right. Upon examination of the patient's mitochondrial DNA, a point mutation at nucleotide position 11778 was found, and the diagnosis of LHON was confirmed. Coenzyme Q10 was used to treat the patient.