Winder A F, Owen J S, Pritchard P H, Lloyd-Jones D, Vallance D T, White P, Wray R
University Department of Molecular Pathology and Clinical Biochemistry, Royal Free and University College School of Medicine, London, UK.
J Clin Pathol. 1999 Mar;52(3):228-30. doi: 10.1136/jcp.52.3.228.
Fish-eye disease is a familial syndrome with corneal opacification, major high density lipoprotein (HDL) deficiency in plasma, significant cholesterol esterification in plasma on non-HDL lipoproteins, generally without premature coronary disease. This first British male case from unrelated British parents had infarcts when aged 49 and 73 years but was asymptomatic at age 81 years, with plasma cholesterol 4.3-7.1 mmol/litre, triglycerides 1.8-2.2 mmol/litre, HDL cholesterol < 0.1 mmol/litre, apolipoprotein A-I < 0.16 g/litre, lipoprotein(a) 0.61 g/litre. Cholesterol esterification was impaired using HDL-3 and A-I proteoliposomes but not using VLDL/IDL/LDL. The findings are those of LCAT deficiency with the classic fish-eye disease defect. Most of the 22 reported cases were homozygous or heterozygous for a Thr-Ile mutation at codon 123 of the lecithin:cholesterol acyltransferase (LCAT) gene. This patient was a double heterozygote for this mutation and a second new incompletely defined mutation affecting LCAT expression as defined by reduced mass and activity in plasma.
鱼眼病是一种家族性综合征，伴有角膜混浊、血浆中主要高密度脂蛋白（HDL）缺乏、非HDL脂蛋白上血浆中显著的胆固醇酯化，一般无早发性冠状动脉疾病。这例来自非近亲英国父母的首例英国男性患者，在49岁和73岁时发生梗死，但81岁时无症状，血浆胆固醇4.3 - 7.1毫摩尔/升，甘油三酯1.8 - 2.2毫摩尔/升，HDL胆固醇<0.1毫摩尔/升，载脂蛋白A-I<0.16克/升，脂蛋白(a)0.61克/升。使用HDL-3和A-I蛋白脂质体时胆固醇酯化受损，但使用极低密度脂蛋白/中间密度脂蛋白/低密度脂蛋白时未受损。这些发现符合卵磷脂胆固醇酰基转移酶（LCAT）缺乏伴典型鱼眼病缺陷的情况。22例已报道病例中的大多数在LCAT基因第123密码子处存在苏氨酸-异亮氨酸突变的纯合子或杂合子。该患者是这种突变的双重杂合子，并且存在第二个新的、未完全明确的影响LCAT表达的突变，这通过血浆中质量和活性降低来定义。
