Primary gelatinous drop-like corneal dystrophy in a white woman. A pathologic, ultrastructural, and immunohistochemical study.
Primary gelatinous drop-like corneal dystrophy in a white woman. A pathologic, ultrastructural, and immunohistochemical study.
复制标题
白人女性原发性凝胶状水滴状角膜营养不良。
作者：
E. R. Büchi;B. Daicker;S. Uffer;F. Gudat
一名白色女性原发性凝胶状滴状角膜营养不良（PGDD），从8岁到37岁。在此期间，由于复发性双侧角膜混浊，她接受了双侧反复板层和穿透性角膜移植术。PGDD的诊断基于10岁和36岁时获得的角膜标本的组织学，以及特征性的临床表现和病程。电镜下可见典型的淀粉样纤维。免疫组织化学染色淀粉样AL（轻链）轻度阳性，但淀粉样AA、AF、AB和角蛋白阴性。因此，PGDD中淀粉样蛋白沉积物的前体蛋白可能来源于免疫球蛋白，例如，从泪膜上。然而，前体蛋白可能完全来自不同的来源。在这种情况下，淀粉样蛋白AL的阳性染色将转化为轻链片段的非特异性吸收。
A white female with primary gelatinous drop-like corneal dystrophy (PGDD) was followed from the ages of 8 to 37 years. During this time, she underwent repeated lamellar and penetrating keratoplasties on both sides due to relapsing bilateral corneal opacifications. The diagnosis of PGDD was based on the histology of the corneal specimens obtained at 10 and 36 years of age, as well as on the characteristic clinical appearance and course. Electron microscopy showed typical amyloid fibrils. Immunohistochemical staining was mildly positive for amyloid AL (light chain), but negative for amyloid AA, AF, AB, and keratin. Thus, the precursor protein of the amyloid deposits in PGDD might derive from immunoglobulins, e.g., from the tear film. However, the precursor protein might derive from a different origin altogether. In that case, the positive staining for amyloid AL would translate nonspecific absorption of fragments of light chains.