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Soo Chang Cho, Na-Kyung Ryoo, Kyu Hyung Park; Association of Irregular Pigment Epithelial Detachment in Central Serous Chorioretinopathy with Genetic Variants Implicated in Age-related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2018;59(9):1435.
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To evaluate the phenotype and genotype correlation of central serous chorioretinopathy (CSC) patients with or without irregular pigment epithelial detachment (PED) on SD-OCT.
This study is a retrospective observational study including a total of 618 patients with CSC, typical choroidal neovascularization (CNV), and polypoidal choroidal vasculopathy (PCV). For CSC patients, a flat, irregular non-dome-shaped protrusion of RPE with sub-RPE fluid on OCT was defined as an irregular PED. Only irregular PED with at least partially hyper-reflective sub-RPE fluid was defined as a ’definite irregular PED’. CSC without definite irregular PED included cases with regular PED, irregular PED with hypo-reflective sub-RPE fluid, or with indeterminate optical density, RPE bump, and only SRF. Participants were classified into 5 subgroups; 1) total CSC (n=280) 2) CSC with definite irregular PED (n=126) 3) CSC without definite irregular PED (n=154) 4) typical CNV (n=203) and 5) PCV (n=203). Ten known major AMD-associated SNPs were analyzed. Logistic regression analysis was performed to reveal the age, sex adjusted association between each pair of subgroups. Individual tests for 10 SNPs were considered significant at P<0.005 (Bonferroni correction).
Association analysis between CSC without definite irregular PED and CNV revealed that significant difference for rs10490924 in ARMS2 (P=1.45*10-3), rs10737680 in CFH (P=3.65*10-3), and marginally significant difference for rs800292 in CFH. Between CSC without definite irregular PED and PCV, rs10490924, rs10737680, and rs800292 were significantly different (P=8.35*10-6, P=3.16*10-3, and P=4.91*10-3, respectively). In contrast, association analysis between CSC with definite irregular PED and CNV revealed no SNP showing significant difference. Between CSC with definite irregular PED and PCV, only 1 SNP (rs10490924) was significantly different (P=4.17*10-3). Association analysis between CSC with definite irregular PED and CSC without definite irregular PED revealed that significant difference for rs800292 (P=2.00*10-3), and marginally significant difference for rs10737680.
These findings suggest patients with definite irregular PED are genetically different from those without definite irregular PED and may have genetic and pathophysiologic overlap with AMD patients.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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