以往文献认为,半乳糖激酶(galactokinase)简称(GALK)活性降低或缺乏的患者只伴有晶体的改变,即发生先天性或生后早期的白内障。本文报道的具有GALK杂合子的患者(酶活性相当正常人的一半)则伴有双眼进行性晶体混浊和黄班区损害,作者认为眼部的两种改变系同一物质所致。患者为中年男性,双眼视力下降被诊断为 Previous literature suggested that patients with diminished or deficient galactokinase (GALK) activity were associated only with changes in the crystal, ie, congenital or early-stage cataracts. In this paper, patients with GALK heterozygotes (half of normal enzyme activity) were accompanied by progressive opacification of the eyes and damage to the yellow zone. The authors concluded that both changes in the eye were caused by the same substance. Patients were middle-aged men, binocular vision loss was diagnosed