Goldberg M F, Tso M, Chen F, Suvaizdis I, Spector R
Ophthalmic Paediatr Genet. 1984 Dec;4(3):123-39. doi: 10.3109/13816818409006112.
The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant. The most striking biomicroscopic feature is an accumulation of large white irregular flakes ('type B opacities') scattered throughout the equatorial cortex, with apparently less involvement of the nucleus. Some of these opacities are globular, but most are flattened and have feathery edges. These type B opacities are clinically and microscopically identical in the two families. Type B lesions are characterized histologically by irregular pale-staining areas. Ultrastructurally, these areas show large collections of microglobular degeneration immediately adjacent to normal-appearing lens fibers. Electron probe studies demonstrate normal calcium levels. 'Type A' opacities are biomicroscopically smaller, punctate, and clinically non-specific. Ultrastructurally, type A opacities include clusters of medium sized lenticular globules, each of which is larger than the individual microglobular abnormalities of type B lesions, although the aggregated type B lesion is considerably larger than an individual type A lesion. The microscopic appearance of this inherited cataract appears to be unique.
作者报告了两个不寻常的片状白内障家系，其作为一种孤立的孟德尔性状遗传，推测为常染色体显性遗传。最显著的生物显微镜特征是大量白色不规则片状物（“B型混浊”）积聚，散布于整个赤道皮质，晶状体核受累明显较少。这些混浊物有些呈球状，但大多数是扁平的且边缘呈羽毛状。这两个家系中的B型混浊在临床和显微镜下表现相同。B型病变在组织学上的特征是不规则的淡染区。超微结构上，这些区域显示紧邻外观正常的晶状体纤维有大量微球状变性聚集。电子探针研究表明钙水平正常。“A型”混浊在生物显微镜下较小，呈点状，临床意义不明确。超微结构上，A型混浊包括中等大小的晶状体小球簇，每个小球都比B型病变的单个微球状异常大，尽管聚集的B型病变比单个A型病变大得多。这种遗传性白内障的显微镜表现似乎是独特的。
