In the past few years we have seen a great acceleration of discoveries in the field of keratoconus including new treatments, diagnostic tools, genomic and molecular determinants of disease risk. Recent genome-wide association studies (GWAS) of keratoconus cases and population wide studies of variation in central corneal thickness and in corneal biomechanical properties confirmed already identified genes and found many new susceptibility variants and biological pathways. Recent findings in genetic determinants of familial keratoconus revealed functionally important variants and established first mouse model of keratoconus. Latest transcriptomic and expression studies started assessing novel non-coding RNA targets in addition to identifying tissue specific effects of coding genes. First genomic insights into better prediction of treatment outcomes are bringing the advent of genomic medicine into keratoconus clinical practice.

在过去的几年中，我们在圆锥角膜领域发现了许多新发现，包括新的治疗方法，诊断工具，疾病风险的基因组和分子决定因素。最近的圆锥角膜病例的全基因组关联研究（GWAS）和中央角膜厚度和角膜生物力学特性变异的人群范围研究证实了已鉴定的基因，并发现了许多新的易感性变异和生物学途径。家族圆锥角膜遗传决定因素的最新发现揭示了功能上重要的变异体，并建立了圆锥角膜的第一个小鼠模型。最新的转录组学和表达研究除鉴定编码基因的组织特异性作用外，还开始评估新型非编码RNA靶标。