关键词: 角膜内皮营养不良, 分子遗传学, 病理生理学

Abstract:

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth or shortly thereafter. The role of SLC4A11 in the pathogenesis of CHED has been one of highlights and difficulties in recent years. In addition to SLC4A11, other potential pathogenic genes for CHED, such as MPDZ, should also be considered. Understanding the role of SLC4A11 and other potential pathogenic genes in the pathogenesis of CHED is an important research direction in the future. At present, the only definitive treatment for corneal endothelial dysfunction is corneal transplantation.  Transplantation of tissue-engineered corneal endothelial cells and the use of Rho-associated kinase inhibition has become a positive way to expand the source of donor tissue, which has a certain application prospect in the treatment of CHED. With the development of molecular genetics and pathophysiology of CHED, it is possible that individualized non-surgical treatment with lower trauma and lower cost will realize early intervention of CHED and become the main treatment direction of CHED in the future. Non-steroidal anti-inflammatory drug, engineered SLC4A11-EL3-containing protein and drugs promoting mitochondrial ROS clearance may be effective for different patients, but further verification is needed. It is also very important to screen suitable patients for different treatment methods. (Int Rev Ophthalmol, 2020, 44：324-330)

Key words: corneal endothelial dysfunction, genetics, pathophysiology