Division of Ophthalmology, Universidad Miguel Hernández, Alicante, Spain.
Keratoconus Unit of Vissum Corporation Alicante, Alicante, Spain.
JAMA Ophthalmol. 2018 Sep 1;136(9):971-978. doi: 10.1001/jamaophthalmol.2018.2373.
Literature suggests corneal morphologic characteristics compatible with keratoconus are present in a high percentage of patients with Down syndrome (DS), suggesting the need to perform a detailed examination of the anterior segment to try to avoid serious visual impairment in this group of patients.
To characterize the abnormal features of the cornea in patients with DS and compare these with a control group.
DESIGN, SETTING, AND PARTICIPANTS: Multicenter case-control study at Vissum Alicante, Alicante, Spain, and the Ophthalmology and Pediatric Department, Cairo University, Cairo, Egypt. Data collection took place between May 2013 and May 2016. Data were analyzed between June 2016 and August 2016. The study included 321 eyes of 217 participants from 2 groups: 112 participants in the DS group and 105 healthy participants in the control group.
Patients were evaluated using Placido disc/Scheimpflug camera topographer (Sirius, CSO). Visual, refractive and anterior, and posterior corneal characteristics were assessed and compared in both groups.
Keratoconus diagnosis. Incidence of corneal morphologic irregularities similar to keratoconus in patients with DS.
In the DS group, mean (SD) age was 14.88 (15.76) years, 54 (48%) were women, 66 (59%) were white, and 46 (41%) were Arab. In the control group, mean (SD) age was 40.29 (14.66) years, 54 (51%) were women, and all were white. Clinical assessment of corneal topography showed that 71.3% (95% CI, 45.2-97.4) of patients in the DS group showed characteristics compatible with keratoconus. Differences were found in steepest keratometry of 47.35 diopters (D) in patients with DS vs 43.70 D in control individuals (difference, 3.65 D; 95% CI, 3.23-4.35 D; P <.001) and in corneal pachymetry of 503 μm in patients with DS vs 545 μm in control individuals (difference, 42 μm; 95% CI, 38.8-56.7 μm; P <.001).
Patients with DS have steeper and thinner corneas and more corneal aberrations than those without genetic alterations and normal corneas. The findings suggest a detailed corneal study should be considered in such patients to detect keratoconus and implement treatment as appropriate to try to avoid serious visual impairment in this group of patients.
文献表明，与唐氏综合征（DS）患者角膜形态特征一致的角膜病变在很大比例的患者中存在，这表明需要对眼前节进行详细检查，以避免该组患者视力严重受损。
描述 DS 患者角膜的异常特征，并与对照组进行比较。
设计、地点和参与者：西班牙阿利坎特 Vissum Alicante 和埃及开罗大学眼科和儿科系的多中心病例对照研究。数据收集于 2013 年 5 月至 2016 年 5 月进行，数据分析于 2016 年 6 月至 2016 年 8 月进行。该研究纳入了来自 2 个组的 217 名参与者的 321 只眼：DS 组 112 名参与者，对照组 105 名健康参与者。
使用 Placido 盘/Scheimpflug 角膜地形图仪（Sirius，CSO）评估患者。评估两组患者的视力、屈光和眼前、后角膜特征，并进行比较。
圆锥角膜的诊断。DS 组患者角膜形态不规则，类似于圆锥角膜的发生率。
DS 组中，平均（SD）年龄为 14.88（15.76）岁，54 名（48%）为女性，66 名（59%）为白人，46 名（41%）为阿拉伯人。对照组中，平均（SD）年龄为 40.29（14.66）岁，54 名（51%）为女性，均为白人。角膜地形图的临床评估显示，DS 组 71.3%（95%CI，45.2-97.4）的患者表现出与圆锥角膜一致的特征。DS 组患者的最陡角膜曲率为 47.35 屈光度（D），对照组为 43.70 D（差异 3.65 D；95%CI，3.23-4.35 D；P<.001），角膜厚度为 503 μm，对照组为 545 μm（差异 42 μm；95%CI，38.8-56.7 μm；P<.001）。
与无遗传改变和正常角膜的患者相比，DS 患者的角膜更陡峭、更薄，角膜像差更多。这些发现表明，应考虑对这些患者进行详细的角膜研究，以发现圆锥角膜并进行适当的治疗，以避免该组患者视力严重受损。
