title: Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes.
abstract: 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.
mesh_terms: D002386:Cataract / Q000235:genetics* / Q000473:pathology; D003560:Cysts / Q000235:genetics*; D005145:Face; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007672:Kidney Cortex; D007674:Kidney Diseases / Q000235:genetics; D007908:Lens, Crystalline / Q000473:pathology* / Q000648:ultrastructure; D008103:Liver Cirrhosis / Q000235:genetics*; D008297:Male; D013577:Syndrome