PDF(Pubmed)
Abstract：
UNASSIGNED: The purpose of this study was to evaluate pupillary light reflex (PLR) to chromatic flashes in patients with early-onset high-myopia (eoHM) without (myopic controls = M-CTRL) and with (female-limited myopia-26 = MYP-26) genetic mutations in the ARR3 gene encoding the cone arrestin.
UNASSIGNED: Participants were 26 female subjects divided into 3 groups: emmetropic controls (E-CTRL, N = 12, mean age = 28.6 ± 7.8 years) and 2 myopic (M-CTRL, N = 7, mean age = 25.7 ± 11.5 years and MYP-26, N = 7, mean age = 28.3 ± 15.4 years) groups. In addition, one hemizygous carrier and one control male subject were examined. Direct PLRs were recorded after 10-minute dark adaptation. Stimuli were 1-second red (peak wavelength = 621 nm) and blue (peak wavelength = 470 nm) flashes at photopic luminance of 250 cd/m². A 2-minute interval between the flashes was introduced. Baseline pupil diameter (BPD), peak pupil constriction (PPC), and postillumination pupillary response (PIPR) were extracted from the PLR. Group comparisons were performed with ANOVAs.
UNASSIGNED: Dark-adapted BPD was comparable among the groups, whereas PPC to the red light was slightly reduced in patients with myopia (P = 0.02). PIPR at 6 seconds elicited by the blue flash was significantly weaker (P < 0.01) in female patients with MYP-26, whereas it was normal in the M-CTRL group and the asymptomatic male carrier.
UNASSIGNED: L/M-cone abnormalities due to ARR3 gene mutation is currently claimed to underlie the pathological eye growth in MYP-26. Our results suggest that malfunction of the melanopsin system of intrinsically photosensitive retinal ganglion cells (ipRGCs) is specific to patients with symptomatic MYP-26, and may therefore play an additional role in the pathological eye growth of MYP-26.
UNASSIGNED: Participants were 26 female subjects divided into 3 groups: emmetropic controls (E-CTRL, N = 12, mean age = 28.6 ± 7.8 years) and 2 myopic (M-CTRL, N = 7, mean age = 25.7 ± 11.5 years and MYP-26, N = 7, mean age = 28.3 ± 15.4 years) groups. In addition, one hemizygous carrier and one control male subject were examined. Direct PLRs were recorded after 10-minute dark adaptation. Stimuli were 1-second red (peak wavelength = 621 nm) and blue (peak wavelength = 470 nm) flashes at photopic luminance of 250 cd/m². A 2-minute interval between the flashes was introduced. Baseline pupil diameter (BPD), peak pupil constriction (PPC), and postillumination pupillary response (PIPR) were extracted from the PLR. Group comparisons were performed with ANOVAs.
UNASSIGNED: Dark-adapted BPD was comparable among the groups, whereas PPC to the red light was slightly reduced in patients with myopia (P = 0.02). PIPR at 6 seconds elicited by the blue flash was significantly weaker (P < 0.01) in female patients with MYP-26, whereas it was normal in the M-CTRL group and the asymptomatic male carrier.
UNASSIGNED: L/M-cone abnormalities due to ARR3 gene mutation is currently claimed to underlie the pathological eye growth in MYP-26. Our results suggest that malfunction of the melanopsin system of intrinsically photosensitive retinal ganglion cells (ipRGCs) is specific to patients with symptomatic MYP-26, and may therefore play an additional role in the pathological eye growth of MYP-26.
摘要：
■这项研究的目的是评估没有（近视对照=M-CTRL）和（女性限制近视-26=MYP-26）的早发性高度近视（eoHM）患者的瞳孔光反射（PLR）对色闪的影响。
■参与者是26名女性受试者，分为3组：正视对照组（E-CTRL，N=12，平均年龄=28.6±7.8岁）和2近视（M-CTRL，N=7，平均年龄=25.7±11.5岁，MYP-26，N=7，平均年龄=28.3±15.4岁）组。此外,检查了一名半合子携带者和一名对照男性受试者。在10分钟暗适应后记录直接PLR。刺激为1秒红色（峰值波长=621nm）和蓝色（峰值波长=470nm）闪烁，亮度为250cd/m²。在闪烁之间引入2分钟的间隔。基线瞳孔直径(BPD),峰值瞳孔收缩（PPC），并从PLR中提取后光照瞳孔反应（PIPR）。用ANOVA进行组比较。
■暗适应的BPD在各组之间具有可比性，而近视患者对红光的PPC略有降低（P=0.02）。在MYP-26的女性患者中，蓝色闪光引起的6秒时的PIPR显着减弱（P<0.01），而在M-CTRL组和无症状的男性携带者中，PIPR是正常的。
■目前声称ARR3基因突变导致的L/M-视锥异常是MYP-26病理性眼部生长的基础。我们的结果表明，固有光敏视网膜神经节细胞（ipRGC）的黑视素系统故障是有症状的MYP-26患者特有的，因此可能在MYP-26的病理性眼部生长中起其他作用。
■参与者是26名女性受试者，分为3组：正视对照组（E-CTRL，N=12，平均年龄=28.6±7.8岁）和2近视（M-CTRL，N=7，平均年龄=25.7±11.5岁，MYP-26，N=7，平均年龄=28.3±15.4岁）组。此外,检查了一名半合子携带者和一名对照男性受试者。在10分钟暗适应后记录直接PLR。刺激为1秒红色（峰值波长=621nm）和蓝色（峰值波长=470nm）闪烁，亮度为250cd/m²。在闪烁之间引入2分钟的间隔。基线瞳孔直径(BPD),峰值瞳孔收缩（PPC），并从PLR中提取后光照瞳孔反应（PIPR）。用ANOVA进行组比较。
■暗适应的BPD在各组之间具有可比性，而近视患者对红光的PPC略有降低（P=0.02）。在MYP-26的女性患者中，蓝色闪光引起的6秒时的PIPR显着减弱（P<0.01），而在M-CTRL组和无症状的男性携带者中，PIPR是正常的。
■目前声称ARR3基因突变导致的L/M-视锥异常是MYP-26病理性眼部生长的基础。我们的结果表明，固有光敏视网膜神经节细胞（ipRGC）的黑视素系统故障是有症状的MYP-26患者特有的，因此可能在MYP-26的病理性眼部生长中起其他作用。
