Salchow Daniel J, Gehle Petra
1 Department of Ophthalmology, Charité-University Medicine Berlin, Berlin, Germany.
2 Department of Cardiology, Charité-University Medicine Berlin, Berlin, Germany.
Eur J Ophthalmol. 2019 Jan;29(1):38-43. doi: 10.1177/1120672118761333. Epub 2018 Mar 27.
: To study ocular manifestations of Marfan syndrome in children and adolescents.
: Retrospective comparative cohort study on consecutive patients up to age 17 years, presenting to the interdisciplinary Marfan clinic of Charité-University Medicine Berlin over a period of 4 years.
: A total of 52 Marfan syndrome patients and 73 controls were enrolled. In Marfan syndrome eyes, the cornea was flatter (mean keratometry, 40.86 ± 2.13 vs 42.55 ± 1.55 diopters in control eyes, p < .001) and corneal astigmatism was greater (1.50 ± 1.22 vs 0.88 ± 0.49 diopters in control eyes, p < .001). The central cornea was thinner in Marfan syndrome eyes (537.35 ± 40.64 vs 552.95 ± 38.57 μm, p = 0.007) and Marfan syndrome eyes were more myopic than control eyes (spherical equivalent, -2.77 ± 4.77 vs -0.64 ± 1.92 diopters, p < .001). Visual acuity was reduced (logMAR 0.11 ± 0.17 vs 0.04 ± 0.26, p = 0.014) and intraocular pressure was lower in Marfan syndrome eyes. Iris transillumination defects were more common in Marfan syndrome eyes (19.6% vs 4.3% in control eyes, odds ratio for Marfan syndrome in the presence of iris transillumination defects = 7.2). Ectopia lentis was only found in Marfan syndrome eyes (25 Marfan syndrome patients, 49% with available data, bilateral in 68%).
: Iris transillumination defects and ectopia lentis are characteristic ocular findings in children and adolescents with Marfan syndrome. Myopia is more common and corneal curvature, central corneal thickness, and visual acuity are reduced in Marfan syndrome eyes. Children with Marfan syndrome need regular comprehensive eye examinations to identify potential complications.
研究儿童和青少年马凡综合征的眼部表现。
对连续4年就诊于柏林夏里特大学医学中心跨学科马凡综合征诊所、年龄在17岁及以下的患者进行回顾性比较队列研究。
共纳入52例马凡综合征患者和73例对照。在马凡综合征患者眼中，角膜更扁平（平均角膜曲率计读数，40.86±2.13 D，对照眼为42.55±1.55 D，p<0.001），角膜散光更大（1.50±1.22 D，对照眼为0.88±0.49 D，p<0.001）。马凡综合征患者的中央角膜更薄（537.35±40.64μm，对照眼为552.95±38.57μm，p = 0.007），且马凡综合征患者的眼睛比对照眼更近视（等效球镜度数，-2.77±4.77 D，对照眼为-0.64±1.92 D，p<0.001）。视力下降（logMAR 0.11±0.17，对照眼为0.04±0.26，p = 0.014），马凡综合征患者的眼压较低。虹膜透照缺损在马凡综合征患者眼中更常见（19.6%，对照眼中为4.3%，存在虹膜透照缺损时马凡综合征的优势比=7.2）。晶状体异位仅在马凡综合征患者眼中发现（25例马凡综合征患者，49%有可用数据，68%为双侧）。
虹膜透照缺损和晶状体异位是儿童和青少年马凡综合征的特征性眼部表现。近视在马凡综合征患者中更常见，且马凡综合征患者的角膜曲率、中央角膜厚度和视力降低。马凡综合征患儿需要定期进行全面的眼部检查以识别潜在并发症。
