From Eye Institute of Shandong First Medical University (J.L., B.N.Z., X.W., D.L., X.D.), Qingdao Eye Hospital of Shandong First Medical University, Qingdao, Shandong, China; State Key Laboratory Cultivation Base (J.L., B.N.Z., X.W., D.L., X.D.), Shandong Provincial Key Laboratory of Ophthalmology, Qingdao, Shandong, China; School of Ophthalmology (J.L., B.N.Z., X.W., D.L., X.D.), Shandong First Medical University, Qingdao, Shandong, China.
Department of Ophthalmology (V.J.), University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Am J Ophthalmol. 2023 Dec;256:146-155. doi: 10.1016/j.ajo.2023.08.004. Epub 2023 Aug 10.
To investigate the hereditability of corneal tomographic and biomechanical parameters in keratoconus (KC).
Prospective cohort study.
This study was conducted at Qingdao Eye Hospital of Shandong First Medical University in Qingdao, China. Forty-four patients with KC and their biological parents (n = 88) were recruited as the study group. The control group consisted of 84 healthy adults with matched age and gender. Both eyes of each participant underwent clinical examinations, and 1 eye was selected for statistical analysis. Exclusion criteria were as follows: individuals with glaucoma, ocular surgery, systemic diseases known to affect the eyes, or poor cooperation during examination. Subjects were asked to discontinue soft contact lens (CL) wear for 2 weeks and rigid gas permeable CL wear for 4 weeks before ocular examination. All participants underwent a comprehensive assessment including Pentacam Scheimpflug tomography, Corvis ST, visual acuity, refraction examination, axial length, and slitlamp examination for both eyes. Individuals presenting with KC manifestations in at least 1 eye were classified as having KC. A total of 9 Pentacam indices including keratometry in the flat/steep meridian (K1/K2), maximal keratometry (Kmax), thinnest point pachymetry (TP), and maximum/average Ambrósio relational thickness (ARTmax/ARTave), anterior and posterior surfaces elevation of the cornea (Ef/Eb) and total deviation value (Final D), and 21 biomechanical indices were collected. Associations of these factors with KC were evaluated using multiple comparison and binary logistics regression analyses.
Two parents (2.27%) from 2 different families were diagnosed with KC. Parents of patients with KC had thinner corneas with altered corneal biomechanical parameters compared with healthy controls (P < .05). The combined tomographic and biomechanical index demonstrated the highest discriminatory power (area under the receiver operating characteristic curve 0.785) and strong specificity (84.5%). Parental corneal tomographic and biomechanical index, Corvis biomechanical index, and TP were identified as the major influential factors for KC in their offspring by logistic regression analysis, with a 73.3% accuracy in identifying offspring with KC.
Parental corneal tomographic and biomechanical properties of patients with KC suggest a possible predisposition to KC. A combination of tomography and corneal biomechanics can be helpful in predicting the incidence rate of KC in the offspring of patients with subclinical KC.
研究圆锥角膜（KC）患者角膜断层和生物力学参数的遗传性。
前瞻性队列研究。
本研究在山东第一医科大学青岛眼科医院进行，共纳入 44 名 KC 患者及其生物学父母（n=88）为研究组，84 名健康成年人作为对照组，匹配年龄和性别。所有患者均进行临床检查，每只眼选取 1 只进行统计分析。排除标准：青光眼、眼部手术、已知影响眼部的系统性疾病或检查时配合不佳者。患者在眼部检查前 2 周停戴软性隐形眼镜，4 周停戴硬性透气性隐形眼镜。所有患者均进行全面评估，包括 Pentacam Scheimpflug 断层扫描、Corvis ST、视力、屈光检查、眼轴长度和裂隙灯检查。至少 1 只眼出现 KC 表现者被诊断为 KC。共采集 9 项 Pentacam 指数，包括角膜平坦/陡峭子午线的角膜曲率（K1/K2）、最大角膜曲率（Kmax）、最薄点角膜厚度（TP）和最大/平均 Ambrósio 相关厚度（ARTmax/ARTave）、角膜前后面隆起（Ef/Eb）和总偏差值（Final D），以及 21 项生物力学指数。采用多元比较和二元逻辑回归分析评估这些因素与 KC 的相关性。
2 个不同家庭的 2 位父母（2.27%）被诊断为 KC。与健康对照组相比，KC 患者的父母角膜更薄，角膜生物力学参数改变（P<0.05）。综合断层扫描和生物力学指数具有最高的判别能力（受试者工作特征曲线下面积 0.785）和较强的特异性（84.5%）。逻辑回归分析显示，父母的角膜断层扫描和生物力学指数、Corvis 生物力学指数和 TP 是子女患 KC 的主要影响因素，对亚临床 KC 患者子女 KC 的检出准确率为 73.3%。
KC 患者父母的角膜断层扫描和生物力学特性提示其可能存在 KC 易感性。角膜断层扫描和生物力学联合分析有助于预测亚临床 KC 患者子女 KC 的发病率。
