Frohlich J, Hoag G, McLeod R, Hayden M, Godin D V, Wadsworth L D, Critchley J D, Pritchard P H
Acta Med Scand. 1987;221(3):291-8. doi: 10.1111/j.0954-6820.1987.tb00896.x.
A 16-year-old boy presented with bilateral arcus cornealis and markedly decreased plasma high density lipoprotein cholesterol. The plasma lipoprotein abnormalities, as well as decreased mass and activity of lecithin:cholesterol acyltransferase (LCAT), were similar to those described in patients with fish eye disease. Increased number of target cells and decreased osmotic fragility of the proband's erythrocytes were noted. The proband's father and one of his brothers showed intermediate plasma lipoprotein and LCAT alterations. The father's erythrocytes also showed abnormal osmotic fragility. The mother of the propositus had normal plasma lipoproteins and erythrocyte osmotic fragility, but her LCAT activity was also low. Many of these features suggest a disorder similar to fish eye disease which is clinically and biochemically distinct from other hypoalphalipoproteinemias.
一名16岁男孩出现双侧角膜弓，血浆高密度脂蛋白胆固醇显著降低。血浆脂蛋白异常以及卵磷脂胆固醇酰基转移酶（LCAT）的质量和活性降低，与鱼眼病患者中描述的情况相似。注意到先证者红细胞的靶细胞数量增加且渗透脆性降低。先证者的父亲及其一个兄弟表现出中等程度的血浆脂蛋白和LCAT改变。父亲的红细胞也显示出异常的渗透脆性。先证者的母亲血浆脂蛋白和红细胞渗透脆性正常，但其LCAT活性也较低。这些特征中的许多表明存在一种与鱼眼病相似的疾病，该疾病在临床和生化方面与其他低α脂蛋白血症不同。
