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題名 | 家族性類澱粉多發性神經病變--一家族報告 |
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作者姓名(中文) | 莊蕙蓴; 楊正烽; 高玲玉; |
作者姓名(外文) | |
書刊名 | 中華民國眼科醫學會雜誌 |
卷期 | 31:3 1992.09[民81.09] |
頁次 | 頁111-115 |
分類號 | 415.828、415.828 |
語文 | chi |
關鍵詞 | 家族性類澱粉多發性神經病變; 眼部疾病; 遺傳疾病; Familial amyloid polyneuropathy; Internal ophthalmoplegia; Vitreous opacity; Denervated hypersensitivity of pupil; Retinal perivasculitis; |
中文摘要 | 家族性類澱粉多發性神經病變為一自體顯性遺傳的全身性疾患,常侵及 眼部。本報告提出一家族四姊弟中有三位經腓神經組織病理切片証實為類澱粉沈 積,除多處臟器受犯外,在眼部的表徵為:大姊及二姊有瀰漫性角膜表層病變、 睫狀肌調節力減弱,暄孔無光或近反射,對類交感神經及副交感神經眼藥物均呈 去神經超過敏反應,大姊另有玻璃體混濁及結膜下與視網膜出血。而三弟有反覆 性角膜糜爛及左眼白內障。據述其早逝之父親及祖父視力均極差。因屬罕見,特 提出討論。 |
英文摘要 | A family with at least three members are diagnosed as Type I familial amyloid polyneuropathyproved by sural nerve biopsy. The familial amyloid polyneuropathy can in-volve multiple organs and the typical clinical pictures,including ocular manifestations as lid ecchymosis, subconjunctival hemorrhage, dry eyes, accommodative insufficiency, poor pupil reaction to light, denervation hypersensitivity, vitreous opacity and retinal hemorrhage by amyloid deposits pathologically, are described. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。