de Jong P T, Bleeker-Wagemakers E M, Vrensen G F, Broekhuyse R M, Peereboom-Wynia J D, Delleman J W
Institute of Ophthalmology, Erasmus University, Rotterdam, The Netherlands.
Ophthalmology. 1990 Sep;97(9):1181-7. doi: 10.1016/s0161-6420(90)32438-7.
A 7-year-old girl was found to have a progressive axial crystalline cataract located in the embryonal, fetal, and infantile nucleus. She also had the unknown association of crystalline cataract with uncombable hair. Samples of the aspirate after extracapsular cataract extraction (ECCE) showed elongated, trigonal crystals on scanning electron microscopy. On transmission electron microscopy, the crystals were surrounded by a membrane sometimes consisting of up to 30 concentric layers. The crystals were found to contain carbon, oxygen, nitrogen, sulfur, and disulfide bonds. The findings suggest that a major constituent of the crystals was a sulfur-containing aminoacid, probably cystine. Protein analysis of the remaining lens material showed elevated alpha-, beta 2-, and gamma 2- crystallin levels. Analysis of the hair root status showed hair loss in the resting phase of the hair cycle with abnormal sheathing in most hairs that were in the growth phase.
一名7岁女孩被发现患有位于胚胎核、胎儿核和婴儿核的进行性轴性晶状体白内障。她还存在晶状体白内障与难梳理头发的未知关联。囊外白内障摘除术（ECCE）后吸出物的样本在扫描电子显微镜下显示出细长的三角形晶体。在透射电子显微镜下，晶体被一层有时由多达30个同心层组成的膜包围。发现晶体含有碳、氧、氮、硫和二硫键。这些发现表明晶体的主要成分是一种含硫氨基酸，可能是胱氨酸。对剩余晶状体材料的蛋白质分析显示α-、β2-和γ2-晶状体蛋白水平升高。对发根状态的分析显示，在毛发周期的休止期有脱发，大多数处于生长期的毛发有异常鞘膜。
