Huang Junting, Nie Kailai, Lv Xinpin, Liu Yuting, Yang Guiqi, Fu Junjiang, Liu Longqian, Lv Hongbin
Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
Research Laboratory of Ophthalmology and Vision Sciences, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
Front Med (Lausanne). 2023 Jan 9;9:1021489. doi: 10.3389/fmed.2022.1021489. eCollection 2022.
Weill-Marchesani syndrome 4 (WMS4) is caused by gene variant and clinical abnormalities including lenticular myopia, ectopia lentis, glaucoma, microspherophakia, brachydactyly, and short stature. Due to free of heart defects and joint stiffness compared with other WMS forms, WMS4 has an insidious onset and is often misdiagnosed as high myopia. We combined multiple imaging biometry and whole-exome sequencing to diagnose a case of WMS4 with a 3-year follow-up.
An 8-year-old boy presented to our ophthalmology department with progressive myopia for 1 year. He had high myopia in both eyes with normal funds, intraocular pressure, and axial length. Ocular examination revealed thicker lenses (right 4.38 mm, left 4.31 mm) with a smaller equatorial diameter (right 7.33 mm and left 7.17 mm) compared to normal children of the same age. Finger length measurement indicates brachydactyly. Whole-exome sequencing identified compound heterozygous missense variants c.2984G > A (p.Arg995Gln) and c.2254A > G (p.Ile752Val) in the gene. During the 3 years of follow-up, the thickness of lenses increased significantly (right 4.49 mm, left 4.48 mm), but the equatorial diameter of the lenses had no significant change (right 7.32 mm, left 7.21 mm). As the equivalent lens power increased, the patient's myopia spherical refractive error rose accordingly. Although the anterior chamber angle remained open during follow-up, the intraocular pressure increased to right 20.4 mmHg and left 19.6 mmHg, Iridodonesis and short stature were present.
This case report highlights the abnormal thickening of the lens in WMS4 compared to the physiological thinning process during childhood. Comprehensive clinical examinations and genetic testing may improve diagnosis, which allows early therapeutic interventions for complications and better visual outcomes for the patient.
韦尔-马切萨尼综合征4型（WMS4）由基因变异引起，临床异常表现包括晶状体性近视、晶状体异位、青光眼、小球形晶状体、短指畸形和身材矮小。与其他类型的WMS相比，WMS4无心脏缺陷和关节僵硬，起病隐匿，常被误诊为高度近视。我们结合多种影像学生物测量和全外显子测序诊断了1例WMS4病例，并进行了3年随访。
一名8岁男孩因进行性近视1年就诊于我院眼科。他双眼高度近视，眼底、眼压和眼轴长度正常。眼部检查发现，与同年龄正常儿童相比，他的晶状体更厚（右眼4.38mm，左眼4.31mm），赤道直径更小（右眼7.33mm，左眼7.17mm）。手指长度测量显示有短指畸形。全外显子测序在该基因中鉴定出复合杂合错义变异c.2984G>A（p.Arg995Gln）和c.2254A>G（p.Ile752Val）。在3年的随访中，晶状体厚度显著增加（右眼4.49mm，左眼4.48mm），但晶状体赤道直径无显著变化（右眼7.32mm，左眼7.21mm）。随着等效球镜度增加，患者的近视球镜屈光不正相应上升。虽然随访期间前房角保持开放，但眼压升高至右眼20.4mmHg，左眼19.6mmHg，存在虹膜震颤和身材矮小。
本病例报告强调了WMS4中晶状体异常增厚，与儿童期生理性变薄过程形成对比。全面的临床检查和基因检测可能会改善诊断，从而能够对并发症进行早期治疗干预，并为患者带来更好的视觉效果。
