一位5歲女孩自三個月大,即罹患嬰兒點頭痙攣發作。頭部電腦斷層顯示胼胝體發育不全。異常的眼底特徵包括雙側性視神經盤缺損,以及右眼裂隙性視網膜色素層變化。其臨床表現與AICARDI氏症候群相符合。 AICARDI氏症候群在眼科上的臨床表現,將在本篇報告中討論。
A 5-year-old girl had suffered from infantile spasms since 3 months of age. Crainal computerized tomography revealed agenesis of the corpus callosum. Abnormal ocular fundus features consisted of bilateral disc colobomas and lacunar pigment change in her right eye. The clinical presentations were consistent with Aicardi syndrome. The ophthalmologic manifestations of Aicardi syndrome will be discussed in this paper.