Riegel E M, Pokorny K S, Friedman A H, Suhan J, Ritch R H, Desnick R J
Surv Ophthalmol. 1982 Mar-Apr;26(5):247-52. doi: 10.1016/0039-6257(82)90159-x.
The ocular pathology of a hemizygous male with Fabry's disease after renal transplantation is reported. The ocular pathology in this patient was essentially identical to that which has previously been reported for both hemizygotes and heterozygotes afflicted with Fabry's disease. Glycolipid deposits and/or osmophilic inclusion bodies were found universally throughout the ocular vasculature. Endothelial, perithelial and smooth muscle cells of the vessel walls were preferentially involved. Iris pigment epithelium was affected as were the corneal epithelium cells. Reduplication of the basement membrane was seen on electron microscopy. Retinal ganglion cells were unaffected. Involvement of the retinal pigment epithelium and the corneal endothelium was documented for the first time.
报道了一名患有法布里病的半合子男性肾移植后的眼部病理学情况。该患者的眼部病理学表现与先前报道的患有法布里病的半合子和杂合子基本相同。在整个眼部血管系统中普遍发现了糖脂沉积物和/或嗜锇性包涵体。血管壁的内皮细胞、周皮细胞和平滑肌细胞优先受累。虹膜色素上皮以及角膜上皮细胞均受到影响。电子显微镜下可见基底膜重复。视网膜神经节细胞未受影响。首次记录到视网膜色素上皮和角膜内皮受累。
