Department of Optometry and Vision Science, Hadassah Academic College, Jerusalem, Israel.
Ophthalmic Physiol Opt. 2020 Jul;40(4):442-451. doi: 10.1111/opo.12706.
Although there is a high prevalence of keratoconus in the Middle East including Israel, limited data is available describing first-degree relatives of patients with sporadic keratoconus (KC) using Scheimpflug imaging. The purpose of this study is to accurately phenotype first-degree relatives of patients with sporadic KC in Israel using corneal tomography, which may help determine the genetic aetiology of KC.
First-degree relatives (N = 56) of 16 KC probands participated in this prospective case-control study. Healthy controls (N = 96) were from a previous study. Autorefraction, visual acuity, slit lamp biomicroscopy, retinoscopy, subjective refraction and Scheimpflug imaging (CSO Sirius Topographer) of keratoconus patients and their first-degree relatives were evaluated. The worse eye was used for KC and KC suspects. The main outcome measure was prevalence of abnormal corneal topography and tomography parameters, which was compared between first-degree relatives vs controls. p values < 0.05 were considered significant.
KC (N = 2) or KC suspect (N = 8) was diagnosed in 18% (95% CI 8-28%) of the first-degree relatives. At least one abnormal corneal parameter was evident in 34% of first-degree relatives, while this was significantly lower for controls (14%, χ = 8.8, p = 0.01). Qualitative analysis showed KC first-degree relatives had significantly more abnormal anterior corneal topography patterns than controls (34% vs 17%, χ = 5.9, p = 0.02). For first-degree relatives, sex was not a factor influencing prevalence of corneal abnormalities (18% for both men and women, χ = 0.0, p = 1.0). A significant correlation was found for first-degree relatives between age and most corneal parameters, while this was not evident for the control group.
Eye care practitioners should consider first-degree relatives of patients with KC at moderate risk for the disease and/or corneal abnormalities.
尽管中东地区（包括以色列）的圆锥角膜发病率很高，但使用 Scheimpflug 成像描述散发性圆锥角膜（KC）患者一级亲属的数据有限。本研究的目的是使用角膜断层扫描术准确表型以色列散发性 KC 患者的一级亲属，这可能有助于确定 KC 的遗传病因。
16 名 KC 先证者的一级亲属（N=56）参加了这项前瞻性病例对照研究。健康对照组（N=96）来自先前的一项研究。对 KC 患者及其一级亲属进行自动验光、视力、裂隙灯生物显微镜检查、视网膜检查、主观验光和 Scheimpflug 成像（CSO Sirius Topographer）检查。使用较差的眼睛来评估 KC 和 KC 疑似患者。主要观察指标是角膜异常地形图和断层扫描参数的患病率，比较一级亲属与对照组之间的差异。p 值<0.05 被认为具有统计学意义。
在 18%（95%CI 8-28%）的一级亲属中诊断出 KC（N=2）或 KC 疑似患者（N=8）。34%的一级亲属存在至少一项异常角膜参数，而对照组这一比例明显较低（14%，χ²=8.8，p=0.01）。定性分析显示，KC 一级亲属的前角膜异常形态明显多于对照组（34% vs 17%，χ²=5.9，p=0.02）。对于一级亲属，性别不是影响角膜异常患病率的因素（男性和女性的患病率均为 18%，χ²=0.0，p=1.0）。一级亲属中年龄与大多数角膜参数之间存在显著相关性，而对照组则没有。
眼科医生应考虑将 KC 患者的一级亲属视为疾病和/或角膜异常的中度风险人群。
