Iwamoto M, Nawa Y, Maumenee I H, Young-Ramsaran J, Matalon R, Green W R
Wilmer Ophthalmological Institute, Baltimore, MD.
Graefes Arch Clin Exp Ophthalmol. 1990;228(4):342-9. doi: 10.1007/BF00920060.
Morquio syndrome (mucopolysaccharidosis IV) is a hereditary lysosomal storage disease characterized by dwarfism, spondyloepiphyseal and dental abnormalities, corneal opacification, and normal intelligence. We report the light and electron microscopic features of two patients with mucopolysaccharidosis type IV A (MPS IV A). Variable degrees of mucopolysaccharide deposition were seen in tissue surveyed by light microscopy. Transmission electron microscopy demonstrated fibrillogranular and multimembranous membrane-bound inclusions distributed primarily in the cornea and trabecular meshwork, to a milder degree in the conjunctiva and sclera, and rarely in the retinal pigment epithelium. Our findings indicate that the accumulation of mucopolysaccharide in MPS IV A occurs primarily in the structures of the anterior segment.
黏多糖贮积症IV型（Morquio综合征）是一种遗传性溶酶体贮积病，其特征为侏儒症、脊椎骨骺和牙齿异常、角膜混浊以及智力正常。我们报告了两例IV型黏多糖贮积症A亚型（MPS IV A）患者的光镜和电镜特征。光镜检查的组织中可见不同程度的黏多糖沉积。透射电镜显示，纤维颗粒状和多膜性膜结合内含物主要分布于角膜和小梁网，结膜和巩膜中程度较轻，视网膜色素上皮中罕见。我们的研究结果表明，MPS IV A中黏多糖的蓄积主要发生在前节结构中。
