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绵羊遗传性白内障的病理学

The pathology of an inherited cataract of sheep.

作者信息

Brooks H V, Jolly R D, Paterson C A

出版信息

Curr Eye Res. 1982;2(9):625-32. doi: 10.3109/02713688208996364.

DOI:10.3109/02713688208996364
PMID:7184716
Abstract

Cataracts, inherited in an autosomal dominant manner in New Zealand Romney sheep were first detected at 1 - 2 months of age as focal anterior and posterior cortical opacities. Within a short time these coalesced to form spoke-like patterns which gradually became more diffuse. Total lens opacity developed by 10 - 11 months of age. Congenital mature cataracts occurred in two lambs believed to be homozygous for the mutant gene and in these animals lens resorption later occurred. Histology showed that new lens fibres formed normally at the equator but then underwent progressive degenerative swelling and lysis. Cytoplasmic vacuolation of anterior epithelial cells was a notable feature and occurred apparently in response to adjacent cortical degeneration. Ultrastructurally these vacuoles were interpreted as dilations of endoplasmic reticulum but there were also a number of smaller vacuoles not lined by membrane. Anterior epithelial cells also underwent metaplasia, hyperplasia, and migration beneath the posterior capsule. Analyses of lenses reflecting different stages of cataractogenesis showed a progressive increase in water, sodium and calcium ions with cataract development and a concomitant decrease in potassium and magnesium ions.

摘要

在新西兰罗姆尼羊中,以常染色体显性方式遗传的白内障在1至2月龄时首次被检测到,表现为局限性的前、后皮质混浊。在短时间内,这些混浊融合形成辐轮状图案,并逐渐变得更加弥漫。到10至11月龄时出现完全晶状体混浊。两只被认为是突变基因纯合子的羔羊出现先天性成熟白内障,在这些动物中,晶状体后来发生吸收。组织学显示,新的晶状体纤维在赤道处正常形成,但随后经历渐进性退行性肿胀和溶解。前上皮细胞的细胞质空泡化是一个显著特征,显然是对相邻皮质变性的反应。超微结构上,这些空泡被解释为内质网的扩张,但也有许多没有膜衬里的较小空泡。前上皮细胞还发生化生、增生,并在后囊膜下迁移。对反映白内障形成不同阶段的晶状体进行分析表明,随着白内障的发展,水、钠和钙离子逐渐增加,而钾和镁离子则随之减少。

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Identification of a 70,000-D protein in lens membrane junctional domains.晶状体膜连接结构域中一种70,000道尔顿蛋白质的鉴定。
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