海南地区角膜营养不良患者临床分型与TGFBI基因突变的相关性研究

目的 本研究收集海南省各地市医院门诊及眼科收治的不同类型角膜营养不良患者,进行临床分型及基因突变检测等一系列研究,并分析海南地区角膜营养不良患者临床分型与转化生长因子-β诱导基因(TGFBI)基因突变的相关性,以期了解海南地区角膜营养不良患者TGFBI基因突变的类型及突变热点。 方法 2012年8月—2019年2月收集海南省各地市医院门诊及眼科收治的不同类型角膜营养不良患者32例并进行临床分析,调查其家系情况,检测家系人群的血液TGFBI基因突变情况并进行相关性分析。 结果 在32例患者中,上皮细胞层状角膜营养不良6例,基质层角膜营养不良22例,后部角膜营养不良4例。共追溯调查家系成员88人,TGFBI基因突变40例,突变率为45.5%;其中角膜营养不良患者中TGFBI基因突变24例,突变率为75.0%。在32例患者中,上皮细胞层状角膜营养不良、基质层角膜营养不良、后部角膜营养不良的TGFBI基因突变分别为83.3%、68.2%和100.0%,对比差异无统计学意义(P>0.05)。 结论 海南地区角膜营养不良患者临床分型多为基质层角膜营养不良,TGFBI基因突变的发生率比较高,多发生于第4位外显子,两者无显著相关性。 

Correlation between clinical classification and TGFBI gene mutation in patients with corneal dystrophy in Hainan

Objective To analyze the correlation between clinical classification and TGFBI gene mutation in patients with corneal dystrophy in Hainan, and understand the type and hot spot of TGFBI gene mutation. Methods Total 32 patients with different types of corneal dystrophy admitted to the outpatient clinics and ophthalmology departments of Hainan province from August 2012 to February 2019 were collected and given clinically analyzed. The family status of the patients was investigated and the blood TGFBI gene mutations in the family were detected and analyzed. Results Among 32 patients, 6 were epithelial lamellar corneal dystrophy, 22 stromal corneal dystrophy and 4 posterior corneal dystrophy. A total of 88 members of the family were retrospectively surveyed and there were 40 members of TGFBI gene mutation, with the mutation rates 45.5%. There were 24 patients of TGFBI gene mutation in corneal dystrophy patients, with the mutation rates 75.0%. In the 32 patients, the TGFBI gene mutations in epithelial lamellar corneal dystrophy, stromal corneal dystrophy, and posterior corneal dystrophy were 83.3%, 68.2%, and 100.0%, respectively, with no statistically significant(P>0.05). Conclusion The clinical classification of corneal dystrophy in Hainan is mostly stromal corneal dystrophy. The incidence of TGFBI gene mutation is relatively high, and most of them are occurring in the fourth exon. There is no significant correlation between the clinical classification and TGFBI gene mutation.