[综述]
圆锥角膜是一种多发生于青少年的非炎症性角膜变性疾病，由于进行性角膜基质变薄，一般表现为高度不规则散光，从而导致视力严重受损。近年来，随着分子生物学研究的发展，关于圆锥角膜的遗传学研究逐渐增多。大量研究发现一些圆锥角膜的发生具有明显的遗传性，核基因组中众多基因可能与圆锥角膜发生密切相关。早期或亚临床期圆锥角膜一般仅表现为近视、散光及角膜局部轻度前凸，不具有典型的临床表现，因而诊断较为困难。通过对圆锥角膜患者亲代家属角膜形态的观察，发现亲代家属角膜形态异常的概率较正常对照组发生率高。应用Pentacam角膜地形图检测患者亲代家属角膜性状，通过对角膜曲率、角膜厚度及后表面高度等性状的评估，说明角膜性状和遗传因素之间具有相关性。本文将对圆锥角膜患者相关基因及角膜性状的遗传学研究进行综述。
Keratoconus is a noninflammatory degenerative corneal disease that occurs most commonly in adolescent due to progressive thinning of the corneal stroma, typically characterized by highly irregular astigmatism, leading to severe visual impairment.In recent years, with the development of molecular biology, genetic research on keratoconus is gradually increasing.A large number of studies have found that the mutation of some nuclear genes and the release of inflammatory mediators may be closely related to keratoconus.Early phase or subclinical keratoconus generally has only the performance for myopic astigmatism and mild corneal slight lordosis, which are not typical clinical manifestations, so the diagnosis is difficult.By observing the corneal morphology of parental family members of patients with keratoconus, it is found that the probability of corneal morphology abnormality in parental family members is higher than that in control groups.Pentacam corneal topography was used to determine the corneal characteristics of the patients' parents and to evaluate corneal curvature, corneal thickness and posterior corneal surface elevation, showing that there is a correlation between corneal characteristics and genetic factors.This article reviews the heritability of genes and corneal characteristics in patients with keratoconus.
程婉玉,盛迅伦. 圆锥角膜相关基因及角膜性状遗传学研究进展[J]. 中华实验眼科杂志,2024,42(10)：958-962.
DOI:10.3760/cma.j.cn115989-20210627-00374版权归中华医学会所有。
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