Association of Irregular Pigment Epithelial Detachment in Central Serous Chorioretinopathy with Genetic Variants Implicated in Age-related Macular Degeneration

Soo Chang Cho,Kyu Hyung Park,Na-Kyung Ryoo,Jeeyun Ahn,Se Joon Woo

doi:10.1038/s41598-020-57747-8

Abstract

We evaluated phenotype and genotype correlation of central serous chorioretinopathy (CSC) patients with or without irregular pigment epithelial detachment (PED) on optical coherence tomography (OCT). For CSC, a flat, irregular protrusion of retinal pigment epithelium (RPE) with hyper-reflective sub-RPE fluid on OCT was defined as an irregular PED. Participants were classified into 5 subgroups; (1) total CSC (n = 280) (2) CSC with irregular PED (n = 126) (3) CSC without irregular PED (n = 154) (4) typical choroidal neovascularization (CNV) (n = 203) and (5) polypoidal choroidal vasculopathy (PCV) (n = 135). Ten known major AMD-associated single-nucleotide polymorphisms (SNPs) were analyzed. Age, sex adjusted logistic regression was performed for the association between subgroups. Association analysis between CSC without irregular PED and CNV revealed that significant difference for rs10490924 in ARMS2, rs10737680 in CFH, and marginally significant difference for rs800292 in CFH. Between CSC without irregular PED and PCV, rs10490924, rs10737680, and rs800292 were significantly different. In contrast, CSC with irregular PED and CNV revealed no SNP showing significant difference. Between CSC with irregular PED and PCV, only rs10490924 was significantly different. CSC with irregular PED and CSC without irregular PED revealed significant difference for rs800292, and marginal difference for rs10737680. These findings suggest CSC patients with irregular PED are genetically different from those without irregular PED and may have genetic and pathophysiologic overlap with AMD patients.

Highlights

Central serous chorioretinopathy (CSC) is a generally self-limiting disease characterized by localized serous detachment of central retina with retinal pigment epithelial abnormality
In the association analysis between patients with irregular pigment epithelial detachment (PED) and those without irregular PED, the rs800292 in CFH were significantly different, and the rs10737680 in CFH showed marginally significant difference. These findings suggest not central serous chorioretinopathy (CSC) patients but CSC patients with phenotype of irregular PED may have genetic and pathophysiologic overlap with neovascular age-related macular degeneration (AMD) patients
These findings suggest CSC patients with irregular PED may have genetic overlap with neovascular AMD patients

Summary

Introduction

Central serous chorioretinopathy (CSC) is a generally self-limiting disease characterized by localized serous detachment of central retina with retinal pigment epithelial abnormality. Pachychoroid spectrum diseases include pachychoroid pigment epitheliopathy (PPE), CSC, pachychoroid neovasculopathy (PNV), and polypoidal choroidal vasculopathy (PCV)[3]. In this spectrum, PNV has been postulated as a possible precursor of PCV4. Due to diverse features of OCT, OCTA, and genetic studies, we presumed that CSC is not a single disease but may be mixed disease of similar phenotype. Because of the mixed nature of the disease, CSC is vaguely classified as acute, chronic or atypical CSC without established concrete definition. This is a good reason why CSC has diverse clinical features and different visual prognosis

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Conclusion