Hayashida Mayuka, Miki Akiko, Nakai Shunichiro, Matsumiya Wataru, Imai Hisanori, Kusuhara Sentaro, Honda Shigeru, Nakamura Makoto
Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
Department of Ophthalmology and Visual Sciences, Osaka City University Graduate School of Medicine, Osaka, Japan.
Mol Vis. 2020 Jul 4;26:505-509. eCollection 2020.
Reduced-fluence photodynamic therapy (RFPDT) has proven effective for some patients with chronic central serous chorioretinopathy (cCSC). Several clinicodemographic factors influencing treatment response have been identified, but associations with genetic factors have not been examined. Therefore, we investigated the associations of single nucleotide polymorphisms (SNPs) implicated in cCSC pathogenesis with clinical outcome following RFPDT.
This was a retrospective study of 87 eyes from 87 patients with cCSC who underwent RFPDT and were followed up for more than 12 months. Patients were divided into a good response group (53 patients) and a poor response group (34 patients) based on either persistence or recurrence of subretinal fluid detected with spectral domain optical coherence tomography after the first application of RFPDT. SNPs in the genes encoding age-related maculopathy susceptibility protein 2 (, SNP rs10490924) and complement factor H (, SNP rs800292) were genotyped using TaqMan technology.
There were no statistically significant differences in the baseline characteristics between the response groups except the degree of hyperfluorescence on indocyanine green angiography (ICGA; p = 0.011). The minor (T) allele frequency of (rs10490924) were statistically significantly lower in the good response group than in the poor response group (24.0% versus 41.0%, p = 0.021). Further, the good response frequency was statistically significantly lower in patients with at least one minor allele (GT or TT) compared to the homozygous major allele group (GG; p<0.05). The baseline best-corrected visual acuity (BCVA) at 12 months after RFPDT was statistically significantly better in the GG carriers than in the GT or TT carriers (p<0.01). Logistic regression analysis showed less intense hyperfluorescence on ICGA, and the T allele of (rs10490924) was statistically significantly associated with poor response to PDT treatment (p = 0.012, p = 0.039, respectively).
Carriers of the rs10490924 minor allele (GT or TT) demonstrated a higher subretinal fluid persistence or recurrence rate and poorer visual outcome following RFPDT. In addition to the ICGA findings, genotyping of (rs10490924) may assist in the selection of patients with cCSC most likely to benefit from RFPDT.
低能量光动力疗法（RFPDT）已被证明对一些慢性中心性浆液性脉络膜视网膜病变（cCSC）患者有效。已经确定了几个影响治疗反应的临床人口统计学因素，但尚未研究与遗传因素的关联。因此，我们研究了与cCSC发病机制相关的单核苷酸多态性（SNP）与RFPDT后临床结局的关联。
这是一项对87例接受RFPDT并随访超过12个月的cCSC患者的87只眼睛进行的回顾性研究。根据首次应用RFPDT后用光谱域光学相干断层扫描检测到的视网膜下液的持续存在或复发情况，将患者分为良好反应组（53例）和不良反应组（34例）。使用TaqMan技术对编码年龄相关性黄斑病变易感蛋白2（，SNP rs10490924）和补体因子H（，SNP rs800292）的基因中的SNP进行基因分型。
除吲哚菁绿血管造影（ICGA）上的高荧光程度外，反应组之间的基线特征无统计学显著差异（p = 0.011）。良好反应组中（rs10490924）的次要（T）等位基因频率在统计学上显著低于不良反应组（24.0%对41.0%，p = 0.021）。此外，与纯合主要等位基因组（GG）相比，至少有一个次要等位基因（GT或TT）的患者的良好反应频率在统计学上显著更低（p<0.05）。RFPDT后12个月时，GG携带者的基线最佳矫正视力（BCVA）在统计学上显著优于GT或TT携带者（p<0.01）。逻辑回归分析显示ICGA上的高荧光强度较低，并且（rs10490924）的T等位基因与PDT治疗反应不良在统计学上显著相关（分别为p = 0.012，p = 0.039）。
（rs10490924）次要等位基因（GT或TT）的携带者在RFPDT后表现出更高的视网膜下液持续存在或复发率以及更差的视力结果。除了ICGA结果外，（rs10490924）的基因分型可能有助于选择最有可能从RFPDT中获益的cCSC患者。
