METHODS: Prospective clinical cohort study.
METHODS: Patients with congenital EL who underwent lens removal and intraocular lens implantation received panel-based next-generation sequencing. Patients were grouped into children and adolescents/adults based on the age at surgery. The visual prognosis, including best-corrected visual acuity (BCVA) and amblyopia, was stratified into short-term and medium to long-term.
RESULTS: This study included 329 probands with congenital EL, with a median age at lens surgery of 7.00 years (interquartile range [IQR] = 5.00, 12.50 years). Children with the non-FBN1 mutation exhibited inferior medium to long-term postoperative BCVA (0.26 [IQR: 0.14, 0.33] vs 0.15 [IQR: 0.10, 0.22], P = .034) and a higher prevalence of amblyopia (44.4% vs 16.8%, P = .012) compared to those with FBN1 mutation. Multivariable analysis showed that genotype (FBN1 vs non-FBN1 mutation) was significantly associated with medium to long-term postoperative BCVA (b = -0.128, 95% CI -0.214 to -0.042, P = .004) and amblyopia (OR = 0.20, 95% CI 0.05-0.78, P = .020) in children. Further classification of FBN1 genotype did not yield significant correlations with visual prognosis. However, no significant correlation was observed between genotype and short-term visual prognosis in the children. Children with less severe EL (OR = 0.13, 95% CI 0.02-0.85, P = .033) had lower risks of amblyopia in the short-term follow-up. For adolescent and adult patients with congenital EL, those with poor preoperative BCVA and long axial length should be informed of suboptimal visual prognosis.
CONCLUSIONS: Genotype significantly influences the medium to long-term visual prognosis in children with congenital EL. Genotype, along with preoperative BCVA, may assist in establishing reasonable expectations for patients regarding their visual outcomes after the lens surgery.
方法:前瞻性临床队列研究。
方法:接受晶状体摘除和人工晶状体植入的先天性EL患者接受了基于小组的下一代测序。根据手术年龄将患者分为儿童和青少年/成人。视觉预后,包括最佳矫正视力(BCVA)和弱视,分为短期和中长期。
结果:本研究纳入了329位先天性EL先证者,晶状体手术的中位年龄为7.00岁(四分位距[IQR]=5.00,12.50岁)。具有非FBN1突变的儿童表现出较差的中长期术后BCVA[0.26(IQR:0.14,0.33)与0.15(IQR:0.10,0.22),P=0.034],弱视患病率较高(44.4%vs.16.8%,P=0.012)与具有FBN1突变的人相比。多变量分析表明基因型(FBN1与非FBN1突变)与儿童术后中远期BCVA(b=-0.128,95%CI-0.214至-0.042,P=0.004)和弱视(OR=0.20,95%CI0.05至0.78,P=0.020)显着相关。FBN1基因型的进一步分类与视觉预后没有显着相关性。然而,在儿童中,基因型和短期视力预后之间没有观察到显著的相关性.轻度EL患儿(OR=0.13,95%CI0.02~0.85,P=0.033)在短期随访中发生弱视的风险较低。对于患有先天性EL的青少年和成人患者,那些术前BCVA和眼轴长度较差的患者应被告知视力预后欠佳。
结论:基因型显著影响先天性EL患儿的中远期视力预后。基因型,连同术前BCVA,可能有助于为患者在晶状体手术后的视力结果建立合理的期望。