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7结语
随着越来越多类型的角膜营养不良的致病基因及其相关基因突变的确定，表现型与基因型相对应的谱系已经日趋完整，更多学者们正尝试着用分子生物学的方法从病因及发病机制的角度对角膜营养不良进行分类和诊断。这种更为精确的基因诊断将帮助临床医师对许多过去不为人知及相互混淆的角膜营养不良进行鉴别[11]。同时，角膜营养不良是一种遗传病，通过基因诊断我们能判断患者及其后代的基因型，以便在症状出现之前，采取针对性治疗措施，延缓病情发展。
此外，通过对基因缺陷以及突变蛋白特性的研究，可以从分子遗传学本质上了解此类疾病的发病机制和病理生理学过程[30]。从而为我们的最终目的—基因治疗打下基础。
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