Nissen Claus, Rönnbäck Cecilia, Sander Birgit, Herbst Kristina, Milea Dan, Larsen Michael, Lund-Andersen Henrik
Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark.
Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark ; Singapore National Eye Centre, Singapore Eye Research Institute, Duke-NUS Graduate Medical School Singapore , Singapore , Singapore ; Angers University Hospital , Angers , France.
Front Neurol. 2015 Feb 4;6:5. doi: 10.3389/fneur.2015.00005. eCollection 2015.
To test whether the melanopsin-containing, intrinsically photosensitive retinal ganglion cells (ipRGCs), as evaluated by examination of the pupillary light reflex (PLR), are preserved in genetically confirmed autosomal dominant optic atrophy (ADOA).
Twenty-nine patients with either the c.983A > G (n = 14) or the c.2708_ 2711delTTAG mutation (n = 15) were examined with monochromatic pupillometry, using isoluminant (300 cd/m(2)), red (660 nm) or blue (470 nm) light, optical coherence tomography, automated visual field analysis, and with determination of best corrected visual acuity (BCVA). Since we examined two different mutations, initially we compared all outcome variables between the two, and finding no statistically significant difference, pooled them.
Despite a poor BCVA (56 letters, ETDRS) in the ADOA patients, their post-illuminatory pupil responses did not differ significantly from those of healthy controls (blue, p = 0.45, red, p = 0.49, t-test), and no statistically significant effect was noted of peripapillary retinal nerve fiber layer thickness, ganglion cell-inner plexiform layer thickness, or age.
The PLR to blue light of high luminance (300 cd/m(2)) was preserved in both c.983A > G and c.2708_2711delTTAG ADOA despite severe visual loss and optic nerve atrophy. The study confirms, in a large sample of two genetically homogenous groups, that the ipRGCs are spared in ADOA.
通过检查瞳孔对光反射（PLR）来评估含黑素视蛋白的内在光敏性视网膜神经节细胞（ipRGCs）在基因确诊的常染色体显性遗传性视神经萎缩（ADOA）中是否得以保留。
对29例携带c.983A > G突变（n = 14）或c.2708_2711delTTAG突变（n = 15）的患者进行单色瞳孔测量，使用等亮度（300 cd/m²）、红色（660 nm）或蓝色（470 nm）光，光学相干断层扫描，自动视野分析，并测定最佳矫正视力（BCVA）。由于我们检查了两种不同的突变，最初我们比较了两者之间的所有结果变量，发现无统计学显著差异后，将它们合并。
尽管ADOA患者的BCVA较差（56个字母，ETDRS），但他们光照后的瞳孔反应与健康对照者无显著差异（蓝色，p = 0.45，红色，p = 0.49，t检验），并且在视乳头周围视网膜神经纤维层厚度、神经节细胞 - 内网状层厚度或年龄方面未发现统计学显著影响。
尽管存在严重视力丧失和视神经萎缩，但在携带c.983A > G和c.2708_2711delTTAG突变的ADOA患者中，高亮度（300 cd/m²）蓝光的PLR得以保留。该研究在两个基因同质的大样本组中证实，ADOA中ipRGCs未受影响。
