摘要目的:探讨圆锥角膜患者及其亲代的角膜地形图特征及对应指标相关性。方法:病例对照研究。选取于青岛眼科医院就诊的圆锥角膜患者父母48人(96只眼)为试验组,男性23人,女性25人,年龄(44.14±1.70)岁;纳入无圆锥角膜的屈光不正患者父母44人(88只眼)为对照组,男女各22人,年龄(42.81±4.03)岁;并进一步在两组中按性别进行分组。另将试验组子代26例(49只眼)圆锥角膜患者纳入研究,男性15例,女性11例,年龄(18.83±2.74)岁。两组受试者及圆锥角膜患者均行视力及Pentacam角膜地形图检查,并做Belin分析。收集基础指标包括:平坦曲率K1、陡峭曲率K2、最大曲率Kmax及散光,角膜最薄厚度(TP)及前/后表面高度(Ef/Eb);及Belin分析指标:角膜前/后表面高度偏差值(Df/Db)、厚度进展偏差值(Dp)、最薄点偏差值(Dt)、相关厚度偏差值(Da)、总偏差值(Do);最小/最大/平均厚度进展指数(PPImin、PPImax、PPIave),及Ambrósio平均/最大相关厚度指数(ARTave/ARTmax)。并行Mann-Whitney U检验比较两组差异的统计意义;对比两组诊断指标异常值的比例,用受试者操作特征(ROC)曲线对比各诊断指标对圆锥角膜亲代的鉴别价值。采用偏相关分析发现圆锥角膜患者与其亲代间参数的相关性,二分类Logistics回归分析通过亲代指标推测子代患病情况。 结果:试验组中筛查出1例(2.08%)阳性患者;试验组与对照组在前表面参数K1、K2、Kmax、散光度数、Ef差异无统计学意义( P>0.05);试验组和对照角膜厚度分别为522.00(493.00,542.75)、540.00(523.25,559.50)μm,角膜后表面高度分别为8.00(4.00,11.00)、5.00(3.00,8.00)μm,差异均有统计学意义( Z=-4.415,-3.307; P<0.05)。另外,两组除Df外,其余Belin分析指标如Do( Z=-4.551, P=0.000)、PPImax( Z=-3.959, P=0.000)、ARTave( Z=-4.792, P=0.000)等指标差异均有统计学意义。Belin分析指标中试验组可疑指标比例为对照组的1.5倍,病理指标则近3.0倍。ARTave指标对圆锥角膜亲代人群的整体鉴别价值最大(ROC曲线下面积为0.705),而PPImax灵敏度最高(0.854),Eb特异度最高(0.837)。圆锥角膜患者与其亲代间多个角膜地形图指标具有强相关性,二分类回归分析发现母亲Do、Eb 、TP指标及父亲Do、Kmax指标是影响子代患病的主要影响因素,在子代中表现出85.6% 的诊断率。 结论:圆锥角膜患者亲代的角膜地形图检查结果中角膜前表面指标正常,但角膜厚度较薄、后表面高度增高;Belin分析指标除Df外均出现异常,可疑及病理指标占比升高;该人群角膜地形图检查结果拥有亚临床期圆锥角膜的特征。相对传统指标,ARTave对该人群的亚临床圆锥角膜鉴别价值最高。圆锥角膜患者与其亲代之间的多个角膜地形图指标强相关,母亲指标的Do、Eb、TP与父亲指标中Do、Kmax预测子代患病情况价值较高。 (中华眼科杂志,2020,56:456-464)
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abstractsObjective:To investigate the corneal topographic characteristics of the parents of patients with keratoconus (KC) and the correlation with their offspring.Methods:Case-control study. Twenty-six patients (49 eyes) with KC, who were 15 males and 11 females, and (18.83±2.74) years old, 48 parents (96 eyes) of patients with KC, who were 23 males and 25 females, and (44.14±1.70) years old, and 44 controls (88 eyes), who were 22 males and 22 females, and (42.81±4.03) years old, were enrolled in Qingdao Eye Hospital. The indexes in the Belin/Ambrósio Enhanced Ectasia Display were acquired with Pentacam topography. The basic indicators were flat K/steep K/maximum K (Kmax) curvature and astigmatism, thinnest pachymetry (TP), and front/back elevation (Ef/Eb); the Belin indexes included deviation of normality of the front/back elevation (Df/Db), deviation of average pachymetry progression/normality of corneal thinnest point/normality of relational thickness (Dp/Dt/Da), overall deviation of normality (Do), minimum/maximum/average pachymetric progression indices (PPImin/PPImax/PPIave), and Ambrósio’s average and maximum relational thickness indices (ARTave/ARTmax). All parameters in the groups of parents and controls were compared by Mann-Whitney U test. The ROC curve was used to analyze the differential value of each abnormal index. In addition, the ratio of abnormal indicators in the Belin/Ambrósio Enhanced Ectasia Display was statistically analyzed. Partial correlation analysis was used to find the correlation between the parameters of KC patients and their parents, and binary logistics regression analysis was used to predict the prevalence in children through the parental indicators. Results:Clinical KC was diagnosed in 1 of the 48 parents (2.08%) of patients with KC. There was no statistically significant difference in anterior surface parameters such as K1, K2, Kmax, astigmatism and Ef, but differences in the thickness [522.00 (493.00, 542.75) μm versus540.00 (523.25, 559.50) μm] and posterior surface elevation value [8.00 (4.00, 11.00) μm versus5.00 (3.00, 8.00) μm] were statistically significant. Except for Df, the other Belin/Ambrósio indicators such as Do ( Z=-4.551, P=0.000), PPImax ( Z=-3.959, P=0.000) and ARTave ( Z=-4.792, P=0.000) indicated significant difference. The ROC curve analyses showed ARTave had the greatest value in the identification of KC patients (AUC=0.705), PPImax had the best sensitivity (0.845), and Eb had the best specificity (0.837). The ratio of suspicious indicators between the parents’ group and the control group was 1.5∶1, and the ratio of pathological indicators was 3∶1. There was a correlation in multiple parameters between KC patients and their parents (all P>0.05). Do/Eb/TP indices of mothers and Do/Kmax indices of fathers were the major influence factors for the disease in the offspring, with a diagnosis rate of 85.6%. Conclusions:The corneal topographic map of the parents of patients with KC showed that the index of the anterior surface was normal, but the thickness was thinner and the posterior surface was higher. According to Belin's analysis, all indicators except Df were abnormal. Moreover, the ratio of suspected and pathological indicators increased. These data suggested that the corneal topography of parents of patients with KC had features of subclinical KC. Compared with the traditional index, ARTave was of the highest value in the identification of subclinical KC. There was a strong correlation between parents of patients with KC and offspring. The Do and Kmax indices of paternal parents and the Do, Eb and TP indices of maternal parents were good predictors of children’s disease. (Chin J Ophthalmol, 2020, 56:456-464)
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