Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy
Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy
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DOI：
10.1038/jhg.2011.138
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发表时间：
2012-02-01
影响因子：
3.5
通讯作者：
Ohtsuki, Hiroshi
中科院分区：
文献类型：
--
作者：
Ohkubo, Sayuri Imai;Matsuo, Toshihiko;Ohtsuki, Hiroshi
特发性上斜肌麻痹表现为定量表型，临床检查表现为眼线垂直偏离和眼周偏离，影像学表现为上斜肌发育不全。我们确定了ARIX和PHOX2B多态性作为基因型，并分析了37例特发性上斜肌麻痹患者的表型-表型和基因型-表型相关性。在头部直立位置测量垂直偏差，头部向两侧倾斜30度，通过眼底照片图像分析确定物镜超偏角度。利用磁共振成像冠状面图像分析，测量眼球球视神经接点附近上斜肌的横截面积，计算亲侧/正常侧比值。在各表型中，头向斜视侧倾斜引起的垂直偏差增加、头向正常侧倾斜引起的垂直偏差减少以及斜视侧与正常侧的客观偏心角度差异均与肌横截面积的斜视侧/正常侧比值呈显著负相关（r=-0.43， P=0.0084; r=-0.34， P=-0.038; r=-0.43， P=0.009）， n=37；Pearson相关检验)。15例ARIX和/或PHOX2B多态性患者与20例无多态性患者相比，肌肉的双亲侧/正常侧比值显著增加（P=0.017, n=35， Mann-Whitney u检验）。ARIX和/或PHOX2B多态性患者的上斜肌发育不全较少。人类遗传学杂志（2012）57,122-129；doi: 10.1038 / jhg。2011.138;2011年12月15日在线发布
Idiopathic superior oblique muscle palsy presents, as quantitative phenotypes, vertical deviation and cyclodeviation in eye alignment on clinical testing, and superior oblique muscle hypoplasia on imaging. We determined ARIX and PHOX2B polymorphisms as genotypes, and analyzed phenotype-phenotype and genotype-phenotype correlations in 37 patients with idiopathic superior oblique muscle palsy. Vertical deviations were measured at upright position of the head and head tilt for 30 degrees to either side, and angles of objective excyclodeviations were determined by image analysis on fundus photographs. Cross-sectional areas of the superior oblique muscle near the eye globe-optic nerve junction were measured by image analysis on coronal sections of magnetic resonance imaging to calculate the paretic-side/normal-side ratios. Among the phenotypes, the increase in vertical deviations elicited by head tilt to the paretic side, the decrease in vertical deviations elicited by head tilt to the normal side and the difference of angles of objective excyclodeviations between the paretic side and normal side were significantly correlated inversely with the paretic-side/normal-side ratios of the cross-sectional areas of the muscle (r=-0.43 with P=0.0084, r=-0.34 with P=-0.038, and r=-0.43 with P=0.009, respectively, n=37, Pearson's correlation test). Fifteen patients with ARIX and/or PHOX2B polymorphisms had significantly greater paretic-side/normal-side ratios of the muscle compared with 20 patients without the polymorphisms (P=0.017, n=35, Mann-Whitney U-test). The patients with ARIX and/or PHOX2B polymorphisms had less hypoplastic superior oblique muscles. Journal of Human Genetics (2012) 57, 122-129; doi: 10.1038/jhg. 2011.138; published online 15 December 2011