Carlson L A, Philipson B
Lancet. 1979 Nov 3;2(8149):922-4.
A man and his three daughters had massive corneal opacities called in their home village "fish-eye disease" because of the resemblance of the eyes to those of boiled fish. The two living daughters had the same dyslipoproteinaemia, characterised by normal serum cholesterol but raised serum triglycerides, raised very-low-density lipoproteins, strikingly high levels of low-density lipoprotein (LDL) triglycerides. LDL contained normal sized as well as abnormally large particles and a 90% reduction in the level of high-density lipoprotein (HDL) cholesterol. Lecithin:cholesterol acyltransferase (LCAT) activity and the percentage of plasma cholesterol esters were normal, with excluded LCAT-deficiency. Normal electrophoretic mobility of HDL as well as other lipoprotein findings excluded Tangier disease. The clinical and laboratory abnormalities in fish-eye disease are atherosclerosis at old age, visual impairment, and dense corneal opacification. Fish-eye disease thus differs both clinically and in its lipoprotein abnormalities from LCAT-deficiency and Tangier disease.
一名男子及其三个女儿患有严重的角膜混浊，在他们的家乡被称为“鱼眼病”，因为眼睛与煮熟的鱼的眼睛相似。两个在世的女儿患有相同的血脂蛋白异常血症，其特征是血清胆固醇正常，但血清甘油三酯升高，极低密度脂蛋白升高，低密度脂蛋白（LDL）甘油三酯水平极高。低密度脂蛋白包含正常大小以及异常大的颗粒，高密度脂蛋白（HDL）胆固醇水平降低了90%。卵磷脂：胆固醇酰基转移酶（LCAT）活性和血浆胆固醇酯百分比正常，排除了LCAT缺乏症。高密度脂蛋白的正常电泳迁移率以及其他脂蛋白检查结果排除了Tangier病。鱼眼病的临床和实验室异常表现为老年动脉粥样硬化、视力损害和致密的角膜混浊。因此，鱼眼病在临床和脂蛋白异常方面均与LCAT缺乏症和Tangier病不同。
