Bron A J, Rabinowitz Y S
Nuffield Laboratory of Ophthalmology Department of Ophthalmology, University of Oxford.
Curr Opin Ophthalmol. 1996 Aug;7(4):71-82. doi: 10.1097/00055735-199608000-00013.
This year's reports have given us a better understanding of several dystrophies as well as improvements in diagnosis and treatment. Eight corneal dystrophies have now been mapped to specific chromosomes and of these lattice, granular, Avellino, and Reis Bückler's dystrophies map to the same region of chromosome 5q, raising the question whether they are the result of mutations in separate genes or of mutations within alleles of a single gene. Phototherapeutic keratoplasty appears to offer an advantage in the initial treatment of several dystrophies whose symptoms arise from superficial corneal change. Some success has been reported in reducing the degree of hyperopic shift that accompanies deeper ablations. Further support for the genetic basis of keratoconus comes from a study in monozygotic twins and from improvements in quantitative videokeratographic indices, which have also improved our ability to distinguish keratoconus from other topographic abnormalities of the cornea. A new hypothesis for the mechanism of keratoconus proposes that an increased expression of interleukin-1 receptors, acting through a paracrine pathway, may disturb keratocyte activity and turnover, leading to a loss of stromal mass.
今年的报告让我们对几种角膜营养不良症有了更深入的了解，同时在诊断和治疗方面也有了改进。目前已确定8种角膜营养不良症与特定染色体相关，其中格子状、颗粒状、阿韦利诺和赖斯 - 布克勒角膜营养不良症都映射到5号染色体长臂的同一区域，这就引发了一个问题：它们是由不同基因的突变导致的，还是单个基因等位基因内的突变所致。光动力角膜切削术在治疗几种因角膜表层变化而出现症状的角膜营养不良症的初始治疗中似乎具有优势。据报道，在减轻较深层消融伴随的远视移位程度方面取得了一些成功。对圆锥角膜遗传基础的进一步支持来自对同卵双胞胎的研究以及定量视频角膜地形图指数的改进，这些也提高了我们区分圆锥角膜与其他角膜地形异常的能力。一种关于圆锥角膜发病机制的新假说提出，通过旁分泌途径起作用的白细胞介素 - 1受体表达增加，可能会干扰角膜细胞的活性和更新，导致基质质量丧失。
