Advances in the Avellino corneal dystrophy
10.3980/j.issn.1672-5123.2017.8.15
- VernacularTitle:Avellino型角膜营养不良的研究进展
- Author:
Jun-Kai, TAN
;
Zhi, WANG
;
Xu-Yang, LIU
;
Zhi-Wei, ZHANG
- Keywords:
transforming growth factor-beta induced gene;
Periostin;
Avellino corneal dystrophy;
gene;
interaction
- From:
International Eye Science
2017;17(8):1461-1464
- CountryChina
- Language:Chinese
-
Abstract:
Avellino corneal dystrophy(ACD) is an autosomal dominant eye disorder caused by mutation of R124H in the transforming growth factor-beta induced gene (TGFBI) on chromosome 5,which was responsible for accumulating of abnormal TGFBI.Although the underlying mechanism by which mutations cause abnormal TGFBI deposition is not yet clear,but we have a better understanding of the etiology and possible pathogenesis of corneal dystrophy with the rapid development of human genetics and molecular biology,and summarizes the current achievement of this disease and understand the roles of TGFBI and its interaction with Periostin,which may contribute to further research in ACD.