Research Progress of Granular Corneal Dystrophy

VernacularTitle:颗粒状角膜营养不良的研究进展
Author: Junliang WANG ; Yiqian HU ; Yingying GONG ; Xiaoxia CHEN ; Zhensheng GU
Keywords: Granular corneal dystrophy(GCD); TGFBI; TGFBIp; Animal model
From: Progress in Modern Biomedicine 2017;17(24):4784-4789
CountryChina
Language:Chinese
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.