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眼底缺損合併小眼角膜－家族病例報告
Unilateral Fundus Coloboma with Microcornea-Report of Two Cases in a Family
摘要
本文報告罹患單側眼底缺損合併小眼角膜之一家族二病例，分別是45歲母親及19歲兒子，男性患者主訴自幼單眼畏光，視力模糊，外斜視及眼球較小，臨床檢查，眼底攝影，視野檢查，及眼部超音波檢查呈現單眼小眼角膜，眼底下鼻側視網膜缺損及上半顳部視野缺損。女性患者除單眼小眼角膜及眼底缺損外併有同一眼部份虹彩缺損，母子二人全身無其它發育異常或合併其它眼球部份異常，此罕見之家族性先天性發育異常，包括單眼眼底視網膜缺損合併小眼角膜之成因及致病機轉尚待研究。
關鍵字
無資料並列摘要
We presented two cases of unilateral fundus coloboma with microcornea in a family, suffering from photophobia, blurred vision of the affected eye with eye squint since early childhood. A series of studies such as physical examination, complete ocular examinations including indirect ophthalmoscopy, color fundus photography, fluorescein angiography, visual field and sonography revealed unilateral microcornea and excavation of inferior retina involving disc and macula with scotoma of the upper field of the lesion eye. All data indicated unilateral fundus coloboma with microcornea except one case with iris coloboma.
延伸閱讀
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