O'Brien Marisa, Tychsen Lawrence
Department of Ophthalmology and Visual Sciences St. Louis Children's Hospital at Washington University Medical Center St. Louis Missouri USA.
Department of Pediatrics St. Louis Children's Hospital at Washington University Medical Center St. Louis Missouri USA.
Pediatr Investig. 2025 May 19;9(2):160-166. doi: 10.1002/ped4.70011. eCollection 2025 Jun.
Myopia of Marfan syndrome (MFS) may be ascribed to crystalline lens subluxation, abnormal corneal curvature, and increased globe axial length. Few studies have reported these measures in MFS children who did or did not have ectopia lentis (EL).
To measure eye findings longitudinally in MFS children with and without EL.
A prospective, comparative case study was conducted on 24 MFS children (48 eyes). EL necessitated lensectomy and intraocular lens implantation surgery in 16/24 children (mean age 5.6 ± 2.8 years). The remaining 8/24 MFS children (mean age 11.2 ± 4.2 years) had no EL and were phakic. Follow-up was a mean of 3.1 ± 0.5 years. At follow-up visits, visual acuity, tonometry, refractive error, central corneal thickness (CCT), biomicroscopic examination, axial length, anterior chamber depth, endothelial cell density (ECD), and corneal curvature were monitored.
At the initial visit, before EL surgery, MFS children with EL had greater myopia ( < 0.01), corneal cylinder ( = 0.04), and CCT ( = 0.01) compared to children with no EL. Over the follow-up interval, EL children had a progressive increase in CCT ( = 0.02) and a reduction in ECD ( = 0.02). EL children also showed: progressive flattening of corneal curvature ( = 0.01); reduction of corneal cylinder ( = 0.02); and increase in axial length ( < 0.01). MFS children with no EL exhibited a smaller increase in CCT ( < 0.01) and a milder flattening of corneal curvature ( < 0.01). The no EL children showed no change in ECD ( = 0.09), corneal cylinder ( = 0.80), or axial length ( = 0.27).
MFS children who have EL exhibit differences in corneal structure and axial length when compared to MFS children with no EL. Children with EL have thicker CCT, more corneal cylinder, lower ECD, and longer axial lengths compared to children with no EL. The differences imply that the fibrillin defect of MFS is more severe in children with EL. The ocular defect is manifested chiefly as zonular hyperextension but has effects also on corneal and scleral integrity.
马凡综合征（MFS）的近视可能归因于晶状体半脱位、异常角膜曲率和眼轴长度增加。很少有研究报告有或没有晶状体异位（EL）的MFS儿童的这些指标。
纵向测量有和没有EL的MFS儿童的眼部检查结果。
对24例MFS儿童（48只眼）进行了一项前瞻性比较病例研究。16/24例儿童（平均年龄5.6±2.8岁）因EL需要进行晶状体切除术和人工晶状体植入手术。其余8/24例MFS儿童（平均年龄11.2±4.2岁）没有EL且晶状体完整。随访平均时间为3.1±0.5年。在随访期间，监测视力、眼压、屈光不正、中央角膜厚度（CCT）、生物显微镜检查、眼轴长度、前房深度、内皮细胞密度（ECD）和角膜曲率。
在初次就诊时，即EL手术前，与没有EL的儿童相比，有EL的MFS儿童近视度数更高（<0.01）、角膜散光更大（=0.04）和CCT更厚（=0.01）。在随访期间，有EL的儿童CCT逐渐增加（=0.02），ECD降低（=0.02）。有EL的儿童还表现出：角膜曲率逐渐变平（=0.01）；角膜散光减少（=0.02）；眼轴长度增加（<0.01）。没有EL的MFS儿童CCT增加较小（<0.01），角膜曲率变平程度较轻（<0.01）。没有EL的儿童ECD（=0.09）、角膜散光（=0.80）或眼轴长度（=0.27）没有变化。
与没有EL的MFS儿童相比，有EL的MFS儿童在角膜结构和眼轴长度方面存在差异。与没有EL的儿童相比，有EL的儿童CCT更厚、角膜散光更大、ECD更低、眼轴长度更长。这些差异表明，有EL的儿童MFS中的原纤维蛋白缺陷更严重。眼部缺陷主要表现为悬韧带过度伸展，但也会影响角膜和巩膜的完整性。
