摘要
胱胺酸貯積症是一種少見的先天代謝疾，過去文獻上偶有報告。 本報告所提出之病例，為8歲女孩，患有幼兒型胱胺酸貯積症，於裂隙燈下角膜及結膜可見許多細小發亮的結晶物，並由結膜切片及電子顯微鏡的觀察證實其診斷。
關鍵字
無資料並列摘要
Cystinosis, being a rare metabolic disease, has been sporadically described in the literature. This report describes a case of nephropathic cystinosis. Tinsel-like opacities are seen in the cornea and conjunctiva, and the slit-lamp appearance is pathognomonic of the condition. Biopsy of conjunctiva showed the presence of cystine crystal, similar to those found elsewhere in the body.