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題 名 | Clinical Features of Leber's Hereditary Optic Neuropathy with the 11778 Mitochondrial DNA Mutation in Taiwanese Patients=11778粒線體DNA突變的雷伯氏遺傳性視神經病變在臺灣病人之臨床表徵 |
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作 者 | 洪祥菱; 高玲玉; 黃錦章; | 書刊名 | 長庚醫學 |
卷 期 | 26:1 2003.01[民92.01] |
頁 次 | 頁41-47 |
分類號 | 416.73 |
關鍵詞 | 雷伯氏遺傳性視神經病變; 11778突變; 臺灣病人; 視力恢復; 發病年齡; Leber's hereditary optic neuropathy; 11778 mutation; Ethnic Taiwanese patients; Visual recovery; Age of onset; |
語 文 | 英文(English) |
中文摘要 | 背景:探索11778粒線體DNA突變的雷伯氏遺傳性視神經病變在臺灣病人身上的臨床特徵。 方法:從1994年到2001年間,共有13位雷伯氏遺傳性視神經病變的病人,證實為11778粒線體DNA突變,登錄於此回溯性研究。 結果:這13位病人當中,男女比例為12比1(92%為男性)。視力下降發生年齡分布為從7歲至30歲,平均為19.4歲。兩眼間發病之間隔從同時發生到7個月不等,平均為2.2個月。有24隻眼睛的最終視力低於或等於0.1(92.3%)。有14隻眼睛的眼底出現異常的變化(54%)。20歲以後發病的病人有較好的最終視力。所有的病人其視覺誘發電位皆異常;甚至在一位病人身上,在其症狀發生前就已經出現異常。 結論:此研究中,我們的病人與其他地區的俱有11778糖線體DNA突變的雷伯氏遺傳性視申經病變之病人有許多共同的臨床表徵。不同的是,在我們的病人身上,我們發現發病年齡與視力預後有密切的關聯。我們並且建議視覺誘發電位為一預測發病之有利工具。 |
英文摘要 | Backgound: to characterize the clinical features of Leber’s hereditary optic neuropathy (LHON) in Taiwanese patients with the 11778 mutation of mitochondrial DNA (mtDNA). Methods: A retrospective review of the clinical manifestation was undertaken in 13 LHON patients with the 11778 mtDNA mutation from 1994 to 2001 in Chang Gung Memorial Hospital. Results: The male-to-female ratio among patients was 12:1 (92% male). The age at onset of visual loss for the first eye ranged from 7 to 30 years old, with a mean of 19.4 years. The time interval between when the second eye was affected ranged from simultaneous onset to 7 months (mean, 2.2 months). The final visual acuity was 0.1 or worse in 24 eyes (92.3%). A suspect fundus was present in 14 of 26 eyes 954%). Patients with later onset of visual loss (<20 years) tended to have better final visual acuities. Abnormal visual evolked potentials (VEPs) were recorded after acute onset of visual loss in all of our patients and even before onset of visual symptoms in 1 patient. Conclusions: The clinical characteristics of our patients harboring the 11778 mitochondrial mutation are mostly similar to those previously reported form other countries. In addition to the common features of LHON, we also noted that there was a relationship between age of onset and visual prognosis. We also suggest that VEP is a good indicator for predicting visual loss. |
本系統中英文摘要資訊取自各篇刊載內容。