Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
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DOI：
10.1007/s10633-016-9535-0
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发表时间：
2016-06
期刊：
影响因子：
--
通讯作者：
McAnany JJ
中科院分区：
文献类型：
--
作者：
Collison FT;Park JC;Fishman GA;Stone EM;McAnany JJ
本研究的目的是评估由视杆细胞、视锥细胞和固有光敏视网膜神经节细胞通路介导的瞳孔光反射 (PLR)，作为因 NR2E3 突变而导致 S 视锥细胞综合征 (ESCS) 增强的患者视网膜外层和内层功能的指标。四名 ESCS 患者（年龄 16-23 岁）参与了这项研究。在光适应条件下，对受试者进行长波和短波单闪光全场 ERG 刺激的测试。他们还使用既定的瞳孔测量方案进行了测试，其中包括在暗适应和光适应条件下持续 1 秒的长波长和短波长刺激。 PLR 被测量为刺激亮度的函数。在所有条件下测量瞬态 PLR，在最高亮度暗适应条件下测量持续 PLR。与相同明视亮度的长波长刺激相比，双色光适应全视野 ERG 表现出对短波长刺激的更大振幅响应，4 名 ESCS 患者中有 3 名对短波长刺激具有超正常的 a 波振幅。所有四种情况下 B/A 波比均降低。在暗适应条件下（视杆介导）低亮度刺激引起的瞬时 PLR 是无法记录的，而高亮度刺激（黑视蛋白介导）引起的持续 PLR 是正常的。所有四名患者均可记录到视锥细胞介导的 PLR，但幅度通常低于正常值。然而，与高亮度下适光匹配的长波长刺激相比，短波长刺激下锥体介导的 PLR 更大，而在对照受试者中未观察到这种模式。 PLR 条件均未表现出“超正常”反应。 ESCS 患者似乎通常具有保存完好的视锥细胞和黑视蛋白介导的 PLR，表明视网膜内功能完整。双色瞳孔测量法在较高亮度条件下表现出对短波长光的更高敏感性，并且可以补充 ERG 作为评估 ESCS 视网膜功能的工具。
The purpose of this study was to evaluate pupillary light reflexes (PLRs) mediated by rod, cone, and intrinsically photosensitive retinal ganglion cell pathways as indices of outer- and inner-retinal function in patients who have enhanced S-cone syndrome (ESCS) due to NR2E3 mutations. Four patients with ESCS (ages 16-23 years) participated in the study. Subjects were tested with long- and short-wavelength single-flash full-field ERG stimuli under light adapted conditions. They were also tested with an established pupillometry protocol involving 1-second duration, long- and short-wavelength stimuli under dark- and light-adapted conditions. The PLR was measured as a function of stimulus luminance. Transient PLRs were measured under all conditions, and sustained PLRs were measured under the highest luminance dark-adapted condition. Two-color light-adapted full-field ERGs demonstrated larger amplitude responses for short-wavelength stimuli relative to long-wavelength stimuli of the same photopic luminance, with 3 of 4 ESCS patients having super-normal a-wave amplitudes to the short-wavelength stimulus. B/A wave ratios were reduced in all four cases. Transient PLRs elicited by low luminance stimuli under dark-adapted conditions (rod-mediated) were unrecordable, whereas the sustained PLRs elicited by high luminance stimuli (melanopsin-mediated) were normal. Cone-mediated PLRs were recordable for all four patients, but generally lower than normal in amplitude. However, the cone-mediated PLR was larger for the short-wavelength stimulus compared to the photopically matched long-wavelength stimulus at high luminances, a pattern that was not observed for control subjects. None of the PLR conditions demonstrated “super-normal” responses. ESCS patients appear to have generally well-preserved cone- and melanopsin-mediated PLRs, indicating intact inner-retinal function. Two-color pupillometry demonstrates greater sensitivity to short-wavelength light under higher-luminance conditions and could complement the ERG as a tool for evaluating retinal function in ESCS.
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影响因子：
8.1
作者：
Hull, Sarah;Arno, Gavin;Moore, Anthony T.
通讯作者：
Moore, Anthony T.
影响因子：
1.8
作者：
HOOD, DC;CIDECIYAN, AV;JACOBSON, SG
通讯作者：
JACOBSON, SG
影响因子：
4.4
作者：
Audo, Isabelle;Michaelides, Michel;Holder, Graham E.
通讯作者：
Holder, Graham E.
影响因子：
1.8
作者：
Greenstein, VC;Zaidi, Q;Jacobson, SG
通讯作者：
Jacobson, SG
DOI：
10.1073/pnas.1400942111
发表时间：
2014-10-28
影响因子：
11.1
作者：
Spitschan, Manuel;Jain, Sandeep;Aguirre, Geoffrey K.
通讯作者：
Aguirre, Geoffrey K.