Abstract
Purpose :
To investigate and compare the genetic associations of chronic central serous chorioretinopathy (cCSCR), neovascular age-related macular degeneration (nAMD), and polypoidal choroidal vasculopathy (PCV).
Methods :
This study involved a Chinese cohort of over 210 cCSCR, 340 nAMD, 280 PCV patients, and 1380 controls. The cCSCR patients were further classified into those with or without secondary choroidal neovascularization (CNV). Eleven single-nucleotide polymorphisms (SNPs) from eight genes, ADAMTS9, ANGPT2, ARMS2, CFH, NR3C2, PGF, TNFRSF10A, and VIPR2, were selected from previous cCSCR genetic studies and genotyped in all subjects by TaqMan assays. Logistic regression analysis, adjusted for age and sex, and heterogeneity tests were conducted for genetic associations and comparison analysis. A p-value less than 0.0045 was considered statistically significant.
Results :
CFH rs800292-A conferred a significant protection for cCSCR with CNV(P<0.0045), but a marginal risk effect for cCSCR without CNV (P<0.05). cCSCR patients carrying the wild-type allele G of rs800292 had an over 3-fold of increased risk towards developing secondary CNV (P<0.0045). Three SNPs in CFH (rs3753394, rs800292, and rs1329428) showed similar effects on cCSCR with CNV, nAMD, and PCV, but opposite effects on cCSCR without CNV. The T allele of TNFRSF10A rs13278062 was associated with overall cCSCR and cCSCR without CNV (P<0.0045), but not with cCSCR with CNV, nAMD, or PCV.
Conclusions :
Genetic associations of cCSCR with CNV is closer to nAMD and PCV than to cCSCR without CNV, indicating differential genetic effects on neovascularization and choroidopathy. Genetic testing for patients with cCSCR could be beneficial for prognosis evaluation and management planning.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.