Hosoda Yoshikatsu, Yamashiro Kenji, Miyake Masahiro, Ooto Sotaro, Oishi Akio, Miyata Manabu, Uji Akihito, Khor Chiea Chuen, Wong Tien Yin, Tsujikawa Akitaka
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan; Department of Ophthalmology, Otsu Red-Cross Hospital, Otsu, Japan.
Ophthalmol Retina. 2019 Nov;3(11):985-992. doi: 10.1016/j.oret.2019.05.025. Epub 2019 May 31.
To investigate potential genetic prognostic factors associated with spontaneous resolution of serous retinal detachment (SRD) and development of choroidal neovascularization (CNV) in central serous chorioretinopathy (CSC).
Retrospective analysis of a case series.
One hundred ninety-six eyes from 196 patients with active CSC.
We retrospectively reviewed medical records and determined the presence or absence of SRD using OCT imaging. The duration until the spontaneous SRD resolution was analyzed using the Kaplan-Meier method, and associations between the duration to spontaneous resolution and Complement factor H (CFH) I62V, Age-Related Maculopathy Susceptibility 2 (ARMS2) A69S, or Vasoactive Intestinal Peptide Receptor 2 (VIPR2) rs3793217 genotypes were evaluated, followed by the assessment of their associations with CNV that developed secondary to CSC.
Genetic associations of CFH rs800292, ARMS2 rs10490924, and VIPR2 rs3793217 genotypes with the duration to spontaneous resolution of SRD and development of CNV during follow-up of CSC.
In 105 of the 196 study participants, we revealed spontaneous SRD resolution in their eyes during follow-up evaluation. Sixty-eight eyes received treatment, and 23 eyes dropped out before spontaneous SRD resolution. Among the 3 genetic polymorphisms assessed herein, only the CFH I62V genotype was predictive of spontaneous SRD resolution among its genotypes (P = 0.017); the average durations for the spontaneous SRD resolution for the individuals with AA, AG, and GG genotype were 126.6±115.5 days, 157.7±243.1 days, and 242.7±198.0 days, respectively, indicating that the G allele was associated with significantly longer persistent SRD (P = 0.035). Among the total number of eyes of all participants, 14 demonstrated CNV during follow-up evaluation. The CFH I62V G and ARMS2 A69S T alleles were associated significantly with CNV development (P = 0.0023 and P = 0.019, respectively), whereas the VIPR2 rs3793217 genotype was not.
The CFH I62V and ARMS2 A69S genotypes can predict the prognosis of CSC. Knowledge of the genetic status may help physicians determine the need for early treatment and possibly prevent subsequent CNV development. Further prospective studies are needed to confirm the observed genotype-phenotype relationship.
研究中心性浆液性脉络膜视网膜病变（CSC）中与浆液性视网膜脱离（SRD）自然消退及脉络膜新生血管形成（CNV）相关的潜在遗传预后因素。
病例系列回顾性分析。
196例活动性CSC患者的196只眼。
我们回顾性分析病历，并使用光学相干断层扫描（OCT）成像确定SRD的有无。采用Kaplan-Meier法分析SRD自然消退的持续时间，并评估自然消退持续时间与补体因子H（CFH）I62V、年龄相关性黄斑病变易感性2（ARMS2）A69S或血管活性肠肽受体2（VIPR2）rs3793217基因型之间的关联，随后评估它们与CSC继发的CNV的关联。
CFH rs800292、ARMS2 rs10490924和VIPR2 rs3793217基因型与CSC随访期间SRD自然消退持续时间及CNV形成的遗传关联。
在196例研究对象中，105例在随访评估期间其患眼出现SRD自然消退。68只眼接受了治疗，23只眼在SRD自然消退前退出研究。在本文评估的3种基因多态性中，只有CFH I62V基因型在其各基因型中可预测SRD自然消退（P = 0.017）；AA、AG和GG基因型个体SRD自然消退的平均持续时间分别为126.6±115.5天、157.7±243.1天和242.7±198.0天，表明G等位基因与SRD持续时间显著延长相关（P = 0.035）。在所有参与者的患眼总数中，14只眼在随访评估期间出现CNV。CFH I62V G和ARMS2 A69S T等位基因与CNV形成显著相关（分别为P = 0.0023和P = 0.019），而VIPR2 rs3793217基因型则无此关联。
CFH I62V和ARMS2 A69S基因型可预测CSC的预后。了解遗传状态可能有助于医生确定早期治疗的必要性，并可能预防随后的CNV形成。需要进一步的前瞻性研究来证实所观察到的基因型-表型关系。
