Hypothetical pathogenesis of age-related macular degeneration and pachychoroid diseases derived from their genetic characteristics

AbstractGenetic studies have investigated the pathogenesis of age-related macular degeneration (AMD). The pachychoroid concept has recently garnered attention as a possible explanation for AMD pathogenesis; the genetic characteristics of pachychoroid diseases have also been elucidated. In this review, we summarize previously reported genetic characteristics of AMD and pachychoroid diseases, and analyze these data to understand the pathogenesis of AMD and pachychoroid diseases. Previous studies show thatVIPR2 and theCFH I62V A allele promote development of pachychoroid and central serous chorioretinopathy (CSC), while theCFH I62V G allele promotes development of drusen, pachychoroid neovasculopathy (PCN/PNV), and AMD.ARMS2/HTRA1 also promotes development of drusen, PCN/PNV, and AMD.TNFRSF10A andGATA5 are associated with CSC but not with pachychoroid, andTNFRSF10A is associated with AMD that includes PCN/PNV. These genetic characteristics suggest the following mechanisms of developing AMD and pachychoroid diseases.VIPR2 and theCFH I62V A allele promote pachychoroid development, which can result in CSC development. TheCFH I62V G allele promotes a common step during PCN/PNV and AMD development induced by pachychoroid or drusen, such as damage of Bruch ’s membrane or retinal pigment epithelium (RPE).ARMS2/HTRA1 also promotes damage of Bruch ’s membrane or RPE, while the association with drusen formation is stronger inARMS2/HTRA1 than inCFH.TNFRSF10A andGATA5 promote blood-reti...
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research