颗粒状角膜营养不良的研究进展

颗粒状角膜营养不良是一种临床少见的常染色体显性遗传病,由于5q31染色体上的TGFBI突变使TGFBIp在角膜前弹力层和基质层异常聚集以及代谢的障碍,导致患者双侧角膜进行性出现不同程度的的浑浊,造成视力的进行性损害。目前报道的TGFBI突变至少有66种,其中至少有10种与颗粒状角膜营养不良有关,由于基因型的差异、纯合子以及杂合子的区别,患者表现型也有很大的差别。随着人们对该病认识的提高,共聚焦显微镜、基因诊疗等方法的应用,越来越多的患者得到了正确诊断,目前的治疗的方法主要有角膜移植和激光消融治疗,但由于术后复发甚至加重的原因,并不能使患者满意。由于颗粒状角膜营养不良动物模型的建立,锂或者基因治疗等方法将会有良好的应用前景。

Research Progress of Granular Corneal Dystrophy

ABSTRACT: Granular corneal dystrophy is a rare autosomal dominant genetic disease in clinic. Due to the TGFBI mutation on the 5q31 chromosome, the TGFBIp abnormally aggregates in the Bowman layer and the matrix layer and metabolic disorders, patients'' bilateral cornea arise opacity, making visual acuity Progressive impairment. At present, there are at least 66 TGFBI mutations, at least 10 of which are related to granular corneal dystrophy, due to variation in genotype and the difference between homozygous and heterozygous, the patients'' phenotype shows a significant difference. Along with the improvement of people''s cognition, and the application of laser scanning confocal microscope and the gene diagnosis, More and more patients get the correct diagnosis, Current treatment methods mainly include corneal transplantation and laser ablation. patients are not satisfied because of the postoperative recurrence and aggravated. Due to the establishment of granular corneal dystrophy animal model, lithium and gene therapy will show a good application prospects.