Hittner H M, Kretzer F L, Mehta R S
Arch Ophthalmol. 1981 Nov;99(11):1977-82. doi: 10.1001/archopht.1981.03930020853008.
Cataracts were found in four patients with pathologically confirmed Zellweger syndrome. By careful slitlamp examination with the pupil completely dilated, there is a denser cortex that produces a cortical-nuclear interface. These opacities have ultrastructural analogues, which are inclusion bodies restricted to the cortical lens fibers. The lens epithelium shows abnormal mitochondrial proliferation that is age dependent. The parents of these four infants with Zellweger syndrome have lenticular opacities that are seen only biomicroscopically after maximal pupillary dilation. These changes consist of curvilinear condensations in the cortical region corresponding to the locus of the cataractous changes in the homozygous state. In the clinical setting of an infant who is failing to thrive, has the Zellweger facies, and demonstrates an absent electroretinogram, these heterozygote lens opacities are useful in making the diagnosis of Zellweger syndrome before pathologic substantiation.
在四名经病理确诊为泽尔韦格综合征的患者中发现了白内障。通过在瞳孔完全散大的情况下仔细进行裂隙灯检查，可发现有一层较致密的皮质，形成皮质-核界面。这些混浊物具有超微结构类似物，即局限于皮质晶状体纤维的包涵体。晶状体上皮显示出与年龄相关的异常线粒体增殖。这四名患有泽尔韦格综合征的婴儿的父母有晶状体混浊，仅在瞳孔最大程度散大后通过生物显微镜检查才能看到。这些变化表现为皮质区域的曲线状浓缩，与纯合状态下白内障变化的部位相对应。在发育不良、具有泽尔韦格面容且视网膜电图消失的婴儿临床情况下，这些杂合子晶状体混浊有助于在病理证实之前诊断泽尔韦格综合征。
