未经证实:Weill-Marchesani综合征4(WMS4)是由ADAMTS17基因变异和临床异常引起的,包括双豆状近视,扁豆异位,青光眼,微球,Brachydactyly,身材矮小。由于与其他WMS形式相比没有心脏缺陷和关节僵硬,WMS4发病隐匿,常被误诊为高度近视。我们结合了多种成像生物测量和全外显子组测序来诊断WMS4病例,并进行了3年的随访。
UNASSIGNED:一名8岁男孩因进行性近视1年来到我们的眼科就诊。他双眼高度近视,资金正常,眼内压,和轴向长度。眼部检查显示镜片较厚(右侧4.38mm,与同年龄的正常儿童相比,左4.31毫米)的赤道直径较小(右7.33毫米和左7.17毫米)。手指长度测量指示短指。全外显子组测序鉴定出复合杂合错义变体c.2984G>A(p。Arg995Gln)和c.2254A>G(p。Ile752Val)在ADAMTS17基因中。在3年的随访中,镜片厚度显著增加(右4.49毫米,左4.48mm),但镜片的赤道直径没有显著变化(右7.32毫米,左7.21毫米)。随着等效透镜屈光力的增加,患者的近视球面屈光不正相应上升。尽管在随访期间前房角保持开放,眼压升高至右侧20.4mmHg和左侧19.6mmHg,存在虹膜和身材矮小。
UNASSIGNED:该病例报告突出了WMS4中晶状体的异常增厚,与儿童时期的生理变薄过程相比。全面的临床检查和基因检测可以改善诊断,这允许早期治疗干预并发症和更好的视觉结果为患者。
UNASSIGNED: Weill-Marchesani syndrome 4 (WMS4) is caused by ADAMTS17 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.
UNASSIGNED: 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 ADAMTS17 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.
UNASSIGNED: 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.