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- OpenAccess
顯性遺傳視神經萎縮(Autosomal dominant optic atrophy)－家族報告
Autosomal Dominant Optic Atrophy-A Family Pedigree
摘要
本文報告一顯性遺傳視神經萎縮的家族病例。3位病人皆主訴視力漸漸地變壞。眼底檢查可見視神經顳側蒼白。視野檢查及色覺檢查均呈異常，且表現出紅藍週邊視野反轉現象。視覺激發電位圖異常而閃光網膜電位圖則呈正常，乃典型顯性遺傳視神經萎縮的表徵。
關鍵字
無資料並列摘要
Heredofamilial optic atrophy is a disease entity that causes insidious, bilateral and symmetric loss of visual function. However, in many cases, such pattern cannot easily be established. We presented a family of autosomal dominant optic atrophy. There are three members suffered from insidiously decreased visual acuity with temporal pale disc in the fundus. Color vision defect and inverted peripheral field to color stimulus in kinetic (Goldman) perimetry also noted. There is one member presented as central scotoma in static perimetry study and constricted visual field found in these three members. Electroretinogram were normal and visual evoked potential showed decreased amplitude and prolonged latency. Survey of family pedigree also suggested another two victims of the same disease.
延伸閱讀
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