Macsai M S, Doshi H
Department of Ophthalmology, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown 26506-9193.
Am J Ophthalmol. 1994 Oct 15;118(4):477-84. doi: 10.1016/s0002-9394(14)75799-x.
X-linked ichthyosis is a relatively common oculodermal disorder. Characteristic corneal opacities are small punctate or filiform lesions and are located in the deep corneal stroma. In an unusual case, a 73-year-old man with X-linked ichthyosis and steroid sulfatase deficiency had superficial corneal opacities. The corneal opacities were granular in nature, involving the subepithelial and anterior stromal layers. The opacities resulted in irregular overlying corneal epithelium and were white-gray in color in direct illumination. Histopathologic and electron microscopic studies demonstrated abnormalities of the corneal epithelial basement membrane. The epithelial basement membrane was thickened with irregular extensions into Bowman's layers. Abnormal depositions of basement membrane protein were seen in the anterior stroma. These abnormalities may have resulted from increased production of basement membrane proteins by the corneal epithelium, resulting from hyperactive turnover of the basal layer.
X连锁鱼鳞病是一种相对常见的眼皮肤疾病。特征性角膜混浊为小的点状或丝状病变，位于角膜深层基质。在一个不寻常的病例中，一名患有X连锁鱼鳞病和类固醇硫酸酯酶缺乏症的73岁男性有浅表性角膜混浊。角膜混浊本质上是颗粒状的，累及上皮下和前基质层。混浊导致上方角膜上皮不规则，在直接照明下呈灰白色。组织病理学和电子显微镜研究显示角膜上皮基底膜异常。上皮基底膜增厚，有不规则延伸进入Bowman层。在前基质中可见基底膜蛋白的异常沉积。这些异常可能是由于角膜上皮基底膜蛋白产生增加所致，这是由基底层的过度活跃周转引起的。
