Libert J
J Fr Ophtalmol. 1984;7(8-9):519-27.
An ultrastructural study of the eyes of a six year old girl affected with fucosidosis demonstrated widespread overloading of lysosomes with a fibrillo-granular material of variable density. Conjunctival and corneal epithelial cells, keratocytes, sclérocytes, fibroblasts, corneal endothelial cells, retinal ganglion cells, inner segments of photoreceptors as well as glial cells of the optic nerve were markedly involved by the storage process. On the contrary, the pigment epithelium of the retina, the ciliary body and the iris were unaffected. Membranous cytoplasmic bodies were only disclosed within Schwann cells of conjunctival and ciliary nerves. Particularly striking lesions were observed within the endothelial cells of capillaries and veins of the eyes, as well as in all tissues examined, like the liver, spleen, kidney, lung, brain and skin. On the contrary, artery walls remained intact. These lesions explain the development of retinal vascular tortuosities, conjunctival aneurisms and cutaneous angiomas that characterize the clinical picture of our patient and that are often described in fucosidosis. The massive overloading of retinal ganglion cells contrasts with the absence of a macular cherry-red spot in fucosidosis. The nature of the stored material is probably responsible for this apparent discrepancy. Indeed, ganglion cells contain membranous cytoplasmic bodies in all diseases with cherry-red spots, whereas only a fibrillo-granular material was disclosed in the present case.
对一名患岩藻糖苷贮积症的六岁女孩眼睛进行的超微结构研究显示，溶酶体被密度各异的纤维颗粒物质广泛过度填充。结膜和角膜上皮细胞、角膜细胞、巩膜细胞、成纤维细胞、角膜内皮细胞、视网膜神经节细胞、光感受器的内节以及视神经胶质细胞均明显受到贮积过程的影响。相反，视网膜色素上皮、睫状体和虹膜未受影响。膜性细胞质体仅在结膜和睫状神经的施万细胞内发现。在眼睛的毛细血管和静脉内皮细胞以及所有检查的组织（如肝脏、脾脏、肾脏、肺、脑和皮肤）中观察到了特别显著的病变。相反，动脉壁保持完整。这些病变解释了视网膜血管迂曲、结膜动脉瘤和皮肤血管瘤的发生，这些是我们患者临床表现的特征，且在岩藻糖苷贮积症中经常被描述。视网膜神经节细胞的大量过度填充与岩藻糖苷贮积症中黄斑樱桃红斑的缺失形成对比。贮存物质的性质可能是造成这种明显差异的原因。事实上，在所有有樱桃红斑的疾病中，神经节细胞都含有膜性细胞质体，而在本病例中仅发现了纤维颗粒物质。
