Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
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DOI：
10.1016/j.ajo.2017.07.008
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发表时间：
2017-10-01
影响因子：
4.2
通讯作者：
Klaver, Caroline C. W.
中科院分区：
文献类型：
--
作者：
Hendriks, Michelle;Verhoeven, Virginie J. M.;Klaver, Caroline C. W.
目的：目前还不清楚哪些视网膜细胞参与了导致近视的视网膜-巩膜信号级联反应。由于遗传性视网膜营养不良（IRD）的特点是单一视网膜细胞类型的功能障碍，并具有高度的屈光不正的风险，研究受影响的细胞类型，致病基因，并在IRD屈光不正可能提供insight. Design：病例对照研究。来自荷兰的两个眼科中心。参考人群：基于人群的鹿特丹研究-III和Erasmus鲁克芬家族研究（N = 5550）。结果：双极细胞相关性营养不良与SE高度近视的危险性最高（239.7），与轻度远视的危险性最高（263.2），两者均P <0.0001; SE-6.86屈光度（D）（标准差[SD] 6.38），其次是视锥细胞为主的营养不良（OR高度近视19.5，P < .0001; OR高度远视10.7，P = .033; SE-3.10 D [SD 4.49]）;视杆细胞为主的营养不良（OR高度近视10.1，P <0.0001; OR高度远视9.7，P = 0.001; SE-2.27 D [SD 4.65]）和视网膜色素上皮（RPE）相关营养不良（OR低度近视2.7; P = .001; OR高度远视5.8; P = .025; SE-0.10 D [SD 3.09]）。RPGR（SE-7.63 D [SD 3.31]）和CACNAlF（SE-5.33 D [SD 3.10]）的突变与最高程度的近视一致，CABP 4（SE 4.81 D [SD 0.35]）与最高程度的远视一致。双极突触和光感受器的内外节可能是近视发展的关键部位。(C)2017爱思唯尔公司All rights reserved.
PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive errors, a study investigating the affected cell type, causal gene, and refractive error in IRDs may provide insight herein.DESIGN: Case-control study.METHODS: STUDY POPULATION: Total of 302 patients with IRD. from 2 ophthalmogenetic centers in the Netherlands. REFERENCE POPULATION: Population-based Rotterdam Study-III and Erasmus Rucphen Family Study (N = 5550). Distributions and mean spherical equivalent (SE) were calculated for main affected cell type and causal gene; and risks of myopia and hyperopia were evaluated using logistic regression.RESULTS: Bipolar cell-related dystrophies were associated with the highest risk of SE high myopia 239.7; odds ratio (OR) mild hyperopia 263.2, both P < .0001; SE-6.86 diopters (D) (standard deviation [SD] 6.38), followed by cone-dominated dystrophies (OR high myopia 19.5, P < .0001; OR high hyperopia 10.7, P = .033; SE-3.10 D [SD 4.49]); rod dominated dystrophies (OR high myopia 10.1, P < .0001; OR high hyperopia 9.7, P = .001; SE-2.27 D [SD 4.65]), and retinal pigment epithelium (RPE)-related dystrophies (OR low myopia 2.7; P = .001; OR high hyperopia 5.8; P = .025; SE-0.10 D [SD 3.09]). Mutations in RPGR (SE -7.63 D [SD 3.31]) and CACNAlF (SE -5.33 D [SD 3.10]) coincided with the highest degree of myopia and in CABP4 (SE 4.81 D [SD 0.35]) with the highest degree of hyperopia.CONCLUSIONS: Refractive errors, in particular myopia, are common in IRD. The bipolar synapse and the inner and outer segments of the photoreceptor may serve as critical sites for myopia development. (C) 2017 Elsevier Inc. All rights reserved.